Jozef Gecz

Research Interests

Genomics Neurogenetics Neurosciences Neuroscience, Behaviour and Brain Health Early Origins of Health Child and Adolescent Health Translational Health Outcomes

Prof Jozef Gecz

Professor of Human Genetics

School of Medicine

College of Health

Eligible to supervise Masters and PhD - email supervisor to discuss availability.

Jozef Gecz is Professor of Human Genetics at the University of Adelaide. He is the founding head of the Neurogenetics Research Program located at the Robinson Research Institute and Adelaide Medical School, at the University of Adelaide. The broad research aim of his group is to further understanding of brain function through the identification and characterisation of genes with naturally occurring mutations in patients with intellectual disability, autism, some, primarily monogenic, forms of epilepsy and cerebral palsy. His team discovered or contributed to the discovery of more than 350 different disease genes (e.g. AFF2, ARX, PHF6, CDKL5, PCDH19, TBC1D24, GOSR2, UPF3B, HCFC1, IQSEC2, RNF113A, STAG2, USP9X, THOC2, GPKOW, RLIM or ZSWIM6). Many of these genes pointed to new and unexpected biological pathways essential for normal brain development and function (e.g. non-sense mediated mRNA decay, NMD or transcription mRNA export complex, TREX). The current focus of his research is in the functional interpretation of genetic variation, coding and non-coding, identified with next generation genomic technologies, using various cell and molecular biology tools, including patient cell (and stem cell) and mouse models.

Prof Gecz is a basic scientist who has built his career at the interface between fundamental ‘breakthrough’ science and health care delivery, i.e. in medical schools and hospitals. His seminal discoveries are primarily in disease gene discovery (>350 disease genes identified) and understanding of their function with the aim of improved diagnosis and management plus development of mechanism based therapies.

Gene discovery in Intellectual disability (ID): Prof Gecz identified the first gene for non-syndromic ID, the FMR2 (or AFF2) gene in 1996 (Nature Genetics), which he followed with 12 other publications on the role of AFF2. AFF2 is the most frequently mutated gene in mild to borderline ID. Many other major ID gene discoveries followed, including ARX (Nature Genetics, 2002 and 27 other articles), PHF6 (Nature Genetics, 2002 and 8 other articles), UPF3B (Nature Genetics 2007 and 9 other articles), IQSEC2 (Nature Genetics 2010 and 2 other articles), HCFC1 (Am J Human Genet 2012), THOC2 (https://pubmed.ncbi.nlm.nih.gov/26166480/ and 3 other articles), USP9X (https://pubmed.ncbi.nlm.nih.gov/24607389/ 2014 and 7 other publications), or ZSWIM6 (https://pubmed.ncbi.nlm.nih.gov/29198722/ in 2017).  

Gene discovery in Epilepsy: Prof Gecz began working on the genetics of epilepsy per se in 1994 as a postdoc in the laboratory of Profs John Mulley and Grant Sutherland in Adelaide and where the first epilepsy genes were discovered since 1995. His focus has been primarily on the X-chromosome and non-ion channel epilepsy gene identification. Among his seminal epilepsy gene discoveries are CDKL5 (Am J Human Genet 2004 and 6 other publications); PCDH19 (Nature Genetics 2008 and 2 other publications); TBC1D24 (Am J Human Genet 2010 and 3 other publications), which has now also been found in DOORS syndrome (Deafness-sensorineural, Onycho/Osteodystrophy and Seizures) and non-syndromic deafness; GOSR2 (Am J Human Genet 2011) and most recently USP9X, a doublecortin interacting protein (Plos One 2013 and Am J Human Genet 2013). Prof Gecz’s group was the first one to implement massively parallel sequencing to epilepsy gene discovery, which yielded, in addition to TBC1D24 (2010) and GOSR2 (2011) also other major epilepsy genes, i.e. PRRT2 (Am J Human Genet 2012), KCNT1 and DEPDC5 (Am J Human Genet 2012, Nature Genetics, 2013; Annals Neurology 2014).

PCDH19 Neuronal rosettes, Clare Homan

Gene discovery in Cerebral palsy (CP): CP is co-morbid with epilepsy, intellectual disability and speech and language disorders. Prof Gecz has engaged in gene discovery in CP since 2012. CP is a disorder thought to be primarily due to environmental risk factors including perinatal trauma, prematurity, asphyxia or injury. He directed the first, large whole exome sequencing study of 183 CP patients and their parents (500 exomes) with Prof Alastair MacLennan and colleagues from Baylor COllege of Medicine, Houston USA (Prof Richard Gibbs and his team). This study (Mol Psych 2015 showed that at least 14% of individuals had genetic etiology of their CP. This was a major paradigm shift in the field with broad implications for medicine. More recent studies of Prof Gecz demonstrate the extensive genetic etiology of unselected CP to the extent of 30-33% (Nat Rev Neurol 2023: https://pubmed.ncbi.nlm.nih.gov/37537278/ or Npj Gen Med: https://pubmed.ncbi.nlm.nih.gov/34531397/ ).

CP and NDD gene discover, Clare van Eyk NRN 2023

Unusual Genetic Mechanisms: Prof Gecz has a major interest in unusual genetic mechanisms of disease, including fragile sites.  He discovered three fragile sites and five fragile site-associated genes (FMR2, FMR3, FRA10AC1, FAM11A or AFF3). He identified the gene for X-linked spondyloepiphyseal disaplasia tarda, SEDL (Nature Genetics 1999), discovery of which was featured in the 2001 International Human Genome Sequencing Consortium Nature paper as an example of how the availability of the human genome sequence would speed up human disease gene discovery (it took 3 months to progress from disease mapping to gene identification).

From gene discovery to gene function and therapy: Prof Gecz’s gene discovery work (and the makeup of his research group) has been increasingly and purposefully complemented with more in depth cellular and molecular biology functional studies and animal models. He has embarked on the application of stem cell technologies (mouse embryonic stem cells; adult neuronal stem cells, human iPS cells) to enhance understanding and modeling of human neurological disease. Successes in this area include expression studies suggesting HCFC1 is a potent regulator of embryonic neuronal development (Hum Mol Genet 2015), investigation of UPF3B-dependent nonsense mediated mRNA decay showing UPF3B regulates neural progenitor cell behaviour and neuronal outgrowth (Human Mol Genet 2013), using a conditional knockout mouse model to show USP9X plays an important role in cortical architecture (Plos One 2013). In collaboratiuon with Prof Paul Thomas they generated and characterised first mouse models of PCDH19 clustering epilepsy (https://pubmed.ncbi.nlm.nih.gov/27240640/ in Scientific Reports 2016 and https://pubmed.ncbi.nlm.nih.gov/29301106/ in Neuron 2018), PHF6 mouse model of BFLS syndrome with Prof Anne Voss and Tim Thomas from WEHI (https://pubmed.ncbi.nlm.nih.gov/30755422/ in Blood 2018 or https://pubmed.ncbi.nlm.nih.gov/32994169/ in Development 2020 or https://pubmed.ncbi.nlm.nih.gov/39405291/ in Plos Genetics 2024), or the first THOC2 animal model (Nat Communications 2024: https://pubmed.ncbi.nlm.nih.gov/38331934/ ).

 Molecular mechanism of THOC2 mutations.

Armed with this greater understanding of the functionality of disease genes, Prof Gecz is developing pre-clinical novel therapeutic treatments. Gecz’s work on TIMMDC1 has demonstrated that antisense oligonucleotides can restore function in vitro (NpjGenMed 2022 7:9). Other example is deficiency of the neurosteroid allopregnanolone contribution to PCDH19-clustering epilepsy (Hum Mol Genet 2015 24:5250-9, Epilepsia 2017 58:e91-95) and subsequent neurosteroid hormone replacement clinical trial (Mol Psychiatry 2015 20:176-82).

Image of iPS cell derived neurons.

Enabling and External Collaborations: Prof Gecz has been instrumental in establishing and contributing to a number of major international consortia to facilitate research and translation. These include the International Genetics of Learning Disability Consortium (IGOLD, with Prof Sir Michael Stratton, Director Welcome Trust Sanger Institute) and the EURO MRX Consortium to identify X-linked ID genes (with Prof Hilger Ropers). Locally, Prof Gecz established the Neurogenetics Research Program at the Women’s and Children’s Hospital and The University of Adelaide in 2002 and has made significant contributions to the Genetics of Learning Disabilities services in South Australia and NSW. Since 2011 he is a major driver in gene discovery in Cerebral Palsy (CP group in South Australia with Prof. A MacLennan) and internationally (Prof. R Gibbs at Baylor College of Medicine). In 2014, Gecz established (alongside Prof. A MacLennan) the Australian Cerebral Palsy Biobank, which he now co-leads alongside Dr C van Eyk). The Australian Cerebral Palsy Biobank has genomic and clinical metadata from over 650 families and supports multiple national and international collaborations and major research efforts (e.g. MRFF GHFM CP Genomics grant 2024-27). Prof. Gecz is also a member of the ASID (Autism Spectrum/Intellectual Disability network) established in 2014 and led by Prof E Eichler (Uni Washington, Seattle, USA). In 2017 Profs Gecz and MacLennan founded the International Cerebral Palsy Genomics Consortium (ICPGC) in Adelaide (https://icpgc.org/ 2017) which continues to be the major international body advocating for genomiucs of CP for better and precision health.

ICPGC timeline as of December 2023.

Prof Gecz’s research laboratory is strategically located within the Adelaide Biomedical Precinct, in immediate proximity to the Royal Adelaide Hospital's and the Women’s and Children’s Hospital's Diagnostic Molecular Genetics, Diagnostic Cytogenetics, Clinical Genetics (SA Pathology), Neurology and Pediatric departments. His research into genetics of human childhood neurological disorders is rapidly translated to improved patient care via provision of diagnostic genetic analysis reports (50-100 reports annually), expert advice regarding cytogenetic and molecular genetics enquiries or technology transfer from the research domain to use in clinical practice (e.g. arrayCGH in 2007 and since 2010 massively parallel sequencing for targeted and whole exome or genome sequencing or long read sequencing since 2018).

Prof Gecz sees the big picture challenges of his research as being i) a deeper understanding of the genetics and biology of neurological disorders (epilepsy, ID, autism and CP) and ii) the efficient and timely translation of research results to facilitate improved outcomes for those affected by these conditions. He is a passionate advocate of medical research and its importance in the future of our society, for our health, education and our economy.

Date Position Institution name
2024 - ongoing Genomics Research Leader at the Robinson Research Institute University of Adelaide
2019 - 2023 Senior Principal Research Fellow NHMRC
2017 - 2020 Associate Editor American Journal of Human Genetics American Society of Human Genetics
2017 - ongoing Fellow of the Australian Academy of Science, AAS, May 2017-present Australian Academy of Science
2016 - ongoing Non-executive Director Telethon Kids Institute
2016 - ongoing Nox-executive director, Board Member Telethon Kids Institute
2016 - 2020 Chair in the Prevention of Childhood Disability The University of Adelaide
2015 - ongoing Fellow Australian Academy of Health and Medical Sciences
2014 - ongoing Co-Lead of The Australian Cerebral Palsy Biobank University of Adelaide
2010 - ongoing Founding Fellow of the RCPA Faculty of Science (FFSc(RCPA)) Royal College of Pathologists of Australasia
2009 - ongoing Professor of Human Genetics The University of Adelaide

Date Type Title Institution Name Country Amount
2025 Award G.J. Mendel's Medal Czech Medical Genetics Society Czech Republic NIL
2025 Award Julian Wells Medal Lorne Genome Inc. Australia NIL
2024 Award 2024 Ramaciotti Medal for Excellence The Clive & Vera Ramaciotti Foundation Australia -
2019 Award 2019 South Australian Scientist of the Year Award SA Science Excellence and Innovation Awards: Department of State Development Australia -
2018 Award CURE Innovator Award CURE Citizens United for Research in Epilepsy United States -

Language Competency
Czech Can read, write, speak, understand spoken and peer review
French Can read, speak and understand spoken
Russian Can read, write and understand spoken
Slovak Can read, write, speak, understand spoken and peer review

Date Institution name Country Title
1993 Slovak Academy of Sciences Slovakia PhD
1986 Comenius University in Bratislava Slovakia RNDr
1986 Comenius University in Bratislava Slovakia Hons

Date Title Institution Country
1991 - 1993 PhD INSERM France

Year Citation
2026 Masnada, S., De Giorgis, V., Carugo, U., Bahi-Buisson, N., Cavallin, M., Corbett, M., . . . Arzimanoglou, A. (2026). Refining Aicardi Syndrome diagnostic Criteria: an expert-based consensus using a modified Delphi approach. European Journal of Paediatric Neurology, 60, 58-70.
DOI
2025 Tantsis, E. M., Mohammad, S. S., Paget, S. P., Virella-Perez, Y. I., Han, V. X., Hadi, D., . . . Wilson, Y. A. (2025). Genetic testing in cerebral palsy with clinical and neuroimaging variables. Developmental Medicine and Child Neurology, 67(11), 1443-1452.
DOI Scopus4 Europe PMC3
2025 Mok, J. W., Mackay, L., Blazo, M., Mizerik, E., Gecz, J., Carroll, R., . . . Machol, K. (2025). C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder. Genetics in Medicine, 27(7), 101429.
DOI Scopus1 WoS1
2025 Singla, A., Rogers, C., Touma, M. J., El-Najjar, Y., Colley, A., Boesch, D. J., . . . Burstein, E. (2025). CCDC22 mutations that impair COMMD binding cause attenuated 3C/Ritscher-Schinzel syndrome. BMC Medical Genomics, 18(1), 98.
DOI
2025 Bhattacharjee, R., Agarwala, S., Mazurkiewicz, D., Gecz, J., & Sharma, R. (2025). Transcription-Export complex in neurodevelopmental disorders. Current Opinion in Genetics and Development, 94, 102380-1-102380-9.
DOI WoS1
2025 Donnio, L. -M., Bidon, B., Hashimoto, S., May, M., Epanchintsev, A., Ryan, C., . . . Egly, J. -M. (2025). MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression (vol 26, pg 2062, 2017). HUMAN MOLECULAR GENETICS, 34(19), 1 page.
DOI
2025 Berry, J. G., Taranath, A., Goetti, R., Farrar, M. A., Fiori, S., Pham, H. -D., . . . van Eyk, C. L. (2025). Genetic diagnostic yield by MRI pattern in children with cerebral palsy: a population-based study.. EBioMedicine, 122, 106013.
DOI
2025 Bennett, M. F., Corbett, M. A., Kroes, T., Canafoglia, L., Oliver, K. L., Cameron, J. M., . . . Bahlo, M. (2025). Novel, complex configurations of the MARCHF6 repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy. Brain Communications, 7(6), 11 pages.
DOI
2025 Xu, Y., Ma, C., Sun, Y., Zhu, J., He, S., Gao, H., . . . Ding, C. (2025). Serum Proteomics Reveals Diagnostic Biomarkers and Molecular Pathways in Cerebral Palsy. Nature Communications, 16(1), 15 pages.
DOI
2025 Akizu, N., & Gecz, J. (2025). Editorial overview: Molecular and genetic basis of disease (2025): post-transcriptional regulation of neurodevelopment and associated disorders. Current Opinion in Genetics and Development, 95, 6 pages.
DOI
2025 Gambardella, A., Liu, Y. -C., Bennett, M. F., Green, T. E., Damiano, J. A., Fortunato, F., . . . Hildebrand, M. S. (2025). PAK3 pathogenic variant associated with sleep-related hypermotor epilepsy in a family with parental mosaicism. Epilepsia Open, 10(2), 593-601.
DOI Scopus1 WoS2 Europe PMC1
2025 van der Sanden, B., Neveling, K., Shukor, S., Gallagher, M. D., Lee, J., Burke, S. L., . . . Hoischen, A. (2025). Optical genome mapping enables accurate testing of large repeat expansions.. Genome Res, 35(4), 810-823.
DOI Scopus4 Europe PMC3
2024 Alshawsh, M., Wake, M., Gecz, J., Corbett, M., Saffery, R., Pitt, J., . . . Godler, D. E. (2024). Epigenomic newborn screening for conditions with intellectual disability and autistic features in Australian newborns. Epigenomics, 16(18), 1203-1214.
DOI Scopus3 WoS3 Europe PMC2
2024 McRae, H. M., Leong, M. P. Y., Bergamasco, M. I., Garnham, A. L., Hu, Y., Corbett, M. A., . . . Voss, A. K. (2024). Loss of PHF6 causes spontaneous seizures, enlarged brain ventricles and altered transcription in the cortex of a mouse model of the Börjeson-Forssman-Lehmann intellectual disability syndrome. PLoS Genetics, 20(10), e1011428-1-e1011428-35.
DOI Scopus1 WoS1 Europe PMC1
2024 Sandran, N. G., Badawi, N., Gecz, J., & van Eyk, C. L. (2024). Cerebral palsy as a childhood-onset neurological disorder caused by both genetic and environmental factors. Seminars in Fetal and Neonatal Medicine, 29(2), 101551-1-101551-9.
DOI Scopus4 WoS3 Europe PMC3
2024 Sullivan, J., Gunning, B., Zafar, M., Guerrini, R., Gecz, J., Kolc, K. L., . . . Samanta, D. (2024). Corrigendum to “Phase 2, placebo-controlled clinical study of oral ganaxolone in PCDH19-clustering epilepsy” [Epilepsy Res. (2023) 191 107112] (Epilepsy Research (2023) 191, (S0920121123000372), (10.1016/j.eplepsyres.2023.107112)). Epilepsy Research, 203, 107342.
DOI WoS1
2024 Herbst, C., Bothe, V., Wegler, M., Axer-Schaefer, S., Audebert-Bellanger, S., Gecz, J., . . . Oppermann, H. (2024). Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly. Hum Genet, 143(3), 455-469.
DOI Scopus2 WoS1 Europe PMC1
2024 Mincheva-Tasheva, S., Pfitzner, C., Kumar, R., Kurtsdotter, I., Scherer, M., Ritchie, T., . . . Thomas, P. Q. (2024). Mapping combinatorial expression of non-clustered protocadherins in the developing brain identifies novel PCDH19-mediated cell adhesion properties. Open Biology, 14(4), 230383-1-230383-13.
DOI Europe PMC1
2024 Wang, Y., Xu, Y., Zhou, C., Cheng, Y., Qiao, N., Shang, Q., . . . Xing, Q. (2024). Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy.. Nat Med, 30(5), 1395-1405.
DOI Scopus21 WoS21 Europe PMC14
2024 Sandran, N. G., Fornarino, D. L., Corbett, M. A., Kroes, T., Gardner, A. E., MacLennan, A. H., . . . van Eyk, C. L. (2024). Application of multiple mosaic callers improves post-zygotic mutation detection from exome sequencing data. Genetics in Medicine, 26(10), 101220-1-101220-14.
DOI
2024 Nicolas-Martinez, E. C., Robinson, O., Pflueger, C., Gardner, A., Corbett, M. A., Ritchie, T., . . . Jolly, L. A. (2024). RNA variant assessment using transactivation and transdifferentiation. American Journal of Human Genetics, 111(8), 1673-1699.
DOI Scopus7 WoS9 Europe PMC9
2024 Wilson, Y. A., Garrity, N., Smithers-Sheedy, H., Goldsmith, S., Karim, T., Henry, G., . . . McIntyre, S. (2024). Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review. Journal of Child Neurology, 39(13-14), 500-509.
DOI Scopus2 WoS1 Europe PMC1
2024 de Nys, R., Gardner, A. E., van Eyk, C., Tasheva, S., Thomas, P. Q., Bhattacharjee, R., . . . Gecz, J. (2024). Proteomic analysis of the developing mammalian brain links PCDH19 to the Wnt/β-catenin signalling pathway. Molecular Psychiatry, 29(7), 2199-2210.
DOI Scopus5 WoS4 Europe PMC4
2024 Dias, K. -R., Shrestha, R., Schofield, D., Evans, C. -A., O'Heir, E., Zhu, Y., . . . Roscioli, T. (2024). Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort. Genetics in Medicine, 26(5), 101076.
DOI Scopus5 WoS4 Europe PMC7
2024 de Nys, R., van Eyk, C. L., Ritchie, T., Møller, R. S., Scheffer, I. E., Marini, C., . . . Gecz, J. (2024). Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy. Translational Psychiatry, 14(1), 1-9.
DOI Scopus4 WoS4 Europe PMC3
2024 Shepherdson, J. L., Hutchison, K., Don, D. W., McGillivray, G., Choi, T. -I., Allan, C. A., . . . Shinawi, M. (2024). Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt. American Journal of Human Genetics, 111(3), 487-508.
DOI Scopus10 WoS11 Europe PMC13
2024 Bhattacharjee, R., Jolly, L. A., Corbett, M. A., Wee, I. C., Rao, S. R., Gardner, A. E., . . . Gecz, J. (2024). Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment. Nature Communications, 15(1), 1210-1-1210-5.
DOI Scopus11 WoS10 Europe PMC8
2024 Karwacki-Neisius, V., Jang, A., Cukuroglu, E., Tai, A., Jiao, A., Predes, D., . . . Shi, Y. (2024). WNT signalling control by KDM5C during development affects cognition. Nature, 627(8004), 594-603.
DOI Scopus21 WoS19 Europe PMC20
2023 van Eyk, C. L., Fahey, M. C., & Gecz, J. (2023). Redefining cerebral palsies as a diverse group of neurodevelopmental disorders with genetic aetiology. Nature Reviews Neurology, 19(9), 542-555.
DOI Scopus34 WoS30 Europe PMC25
2023 Ha, T. T., Burgess, R., Newman, M., Moey, C., Mandelstam, S. A., Gardner, A. E., . . . Corbett, M. A. (2023). Aicardi Syndrome Is a Genetically Heterogeneous Disorder. Genes, 14(8), 1565.
DOI Scopus4 WoS2 Europe PMC3
2023 Koop, K., Yuan, W., Tessadori, F., Rodriguez-Polanco, W. R., Grubbs, J., Zhang, B., . . . van Hasselt, P. (2023). Macrocephaly and developmental delay caused by missense variants in RAB5C. Human Molecular Genetics, 32(21), 3063-3077.
DOI Scopus4 WoS4 Europe PMC5
2023 Byrne, A. B., Arts, P., Ha, T. T., Kassahn, K. S., Pais, L. S., O'Donnell-Luria, A., . . . Webber, D. L. (2023). Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death. Nature Medicine, 29(1), 180-189.
DOI Scopus46 WoS40 Europe PMC32
2023 Brazane, M., Dimitrova, D. G., Pigeon, J., Paolantoni, C., Ye, T., Marchand, V., . . . Carré, C. (2023). The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance.. Life Science Alliance, 6(4), e202201877.
DOI Scopus11 WoS10 Europe PMC9
2023 Stark, Z., Boughtwood, T., Haas, M., Braithwaite, J., Gaff, C. L., Goranitis, I., . . . North, K. N. (2023). Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare. American Journal of Human Genetics, 110(3), 419-426.
DOI Scopus50 WoS46 Europe PMC51
2023 Sullivan, J., Gunning, B., Zafar, M., Guerrini, R., Gecz, J., Kolc, K. L., . . . Samanta, D. (2023). Phase 2, placebo-controlled clinical study of oral ganaxolone in PCDH19-clustering epilepsy. Epilepsy Research, 191, 107112-1-107112-7.
DOI Scopus19 WoS19 Europe PMC16
2023 Corbett, M. A., Depienne, C., Veneziano, L., Klein, K. M., Brancati, F., Guerrini, R., . . . Gecz, J. (2023). Genetics of Familial Adult Myoclonus Epilepsy: From linkage studies to non-coding repeat expansions. Epilepsia, 64(Suppl. 1), S14-S21.
DOI Scopus17 WoS18 Europe PMC17
2023 Li, D., Wang, Q., Bayat, A., Battig, M. R., Zhou, Y., Bosch, D. G., . . . Hakonarson, H. (2023). Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.. The Journal of clinical investigation, 134(1), e171235-1-e171235-17.
DOI Scopus25 WoS27 Europe PMC27
2023 van Eyk, C., Berry, J., & Gecz, J. (2023). Genetic diagnosis enabling precision medicine for cerebral palsy. INSPIRE Magazine, (030), 30-31.
2023 Morgan, A. T., Scerri, T. S., Vogel, A. P., Reid, C. A., Quach, M., Jackson, V. E., . . . Hildebrand, M. S. (2023). Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40. Brain, 146(12), 5086-5097.
DOI Scopus8 WoS9 Europe PMC10
2022 Leitão, E., Schröder, C., Parenti, I., Dalle, C., Rastetter, A., Kühnel, T., . . . Depienne, C. (2022). Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.. Nature Communications, 13(1), 6570-1-6570-17.
DOI Scopus30 WoS28 Europe PMC30
2022 El Chehadeh, S., Han, K. A., Kim, D., Jang, G., Bakhtiari, S., Lim, D., . . . Um, J. W. (2022). SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice.. Nature Communications, 13(1), 4112-1-4112-19.
DOI Scopus16 WoS15 Europe PMC19
2022 Levy, M. A., Relator, R., McConkey, H., Pranckeviciene, E., Kerkhof, J., Barat-Houari, M., . . . Sadikovic, B. (2022). Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.. Human Mutation, 43(11), 1609-1628.
DOI Scopus56 WoS55 Europe PMC51
2022 Kayumi, S., Pérez-Jurado, L. A., Palomares, M., Rangu, S., Sheppard, S. E., Chung, W. K., . . . Corbett, M. A. (2022). Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants. Genetics in Medicine, 24(11), 2351-2366.
DOI Scopus35 WoS37 Europe PMC32
2022 Kumar, R., Kamath, K. S., Carroll, L., Hoffmann, P., Gecz, J., & Jolly, L. A. (2022). Endogenous protein interactomes resolved through immunoprecipitation-coupled quantitative proteomics in cell lines. STAR protocols, 3(4), 1-31.
DOI Scopus4 WoS4 Europe PMC4
2022 Li, N., Zhou, P., Tang, H., He, L., Fang, X., Zhao, J., . . . Hu, H. (2022). In-depth analysis reveals complex molecular aetiology in a cohort of idiopathic cerebral palsy.. Brain, 145(1), 119-141.
DOI Scopus71 WoS65 Europe PMC56
2022 Wilson, Y. A., Smithers-Sheedy, H., Ostojic, K., Waight, E., Kruer, M. C., Fahey, M. C., . . . McIntyre, S. (2022). Common data elements to standardize genomics studies in cerebral palsy.. Developmental Medicine and Child Neurology, 64(12), 1470-1476.
DOI Scopus11 WoS10 Europe PMC10
2022 Jolly, L. A., Kumar, R., Penzes, P., Piper, M., & Gecz, J. (2022). The DUB Club: Deubiquitinating Enzymes and Neurodevelopmental Disorders. Biological Psychiatry, 92(8), 614-625.
DOI Scopus21 WoS23 Europe PMC19
2022 Wilson, Y. A., McIntyre, S., Waight, E., Thornton, M., van Otterloo, S., Marmont, S. R., . . . Badawi, N. (2022). People with Cerebral Palsy and Their Family’s Preferences about Genomics Research. Public Health Genomics, 25(1-2), 1-10.
DOI Scopus4 WoS4 Europe PMC5
2022 Blue, G. M., Mekel, M., Das, D., Troup, M., Rath, E., Ip, E., . . . Winlaw, D. S. (2022). Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genes: WGS in transposition of the great arteries. American Heart Journal, 244, 1-13.
DOI Scopus19 WoS19 Europe PMC14
2022 Kumar, R., Corbett, M. A., Smith, N. J. C., Hock, D. H., Kikhtyak, Z., Semcesen, L. N., . . . Gecz, J. (2022). Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder. npj Genomic Medicine, 7(1), 9-1-9-12.
DOI Scopus14 WoS11 Europe PMC16
2022 Kurolap, A., Kreuder, F., Gonzaga-Jauregui, C., Duvdevani, M. P., Harel, T., Tammer, L., . . . Baris Feldman, H. (2022). Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity. The American Journal of Human Genetics, 109(3), 518-532.
DOI Scopus10 WoS10 Europe PMC13
2022 Bennett, M. F., Hildebrand, M. S., Kayumi, S., Corbett, M. A., Gupta, S., Ye, Z., . . . Berkovic, S. F. (2022). Evidence for a dual-pathway, 2-hit genetic model for focal cortical dysplasia and epilepsy. Neurology Genetics, 8(1), e0652-1-e0652-11.
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2022 Levy, M. A., McConkey, H., Kerkhof, J., Barat-Houari, M., Bargiacchi, S., Biamino, E., . . . Sadikovic, B. (2022). Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.. HGG Advances, 3(1), 100075-1-100075-18.
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2021 van Eyk, C. L., Webber, D. L., Minoche, A. E., Pérez-Jurado, L. A., Corbett, M. A., Gardner, A. E., . . . Gecz, J. (2021). Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing. npj Genomic Medicine, 6(1), 74-1-74-11.
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2021 Richard, E. M., Bakhtiari, S., Marsh, A. P. L., Kaiyrzhanov, R., Wagner, M., Shetty, S., . . . Kruer, M. C. (2021). Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. American Journal of Human Genetics, 108(10), 2006-2016.
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2021 Pham, D. H., Pitman, M. R., Sharma, R., Jolly, L., Schulz, R., Gardner, A., . . . Gecz, J. (2021). Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants. Hum Mutat, 42(8), 1030-1041.
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2021 Liu, T., Wang, F. S., Cheah, F. S. H., Gu, Y., Shaw, M., Law, H. -Y., . . . Chong, S. S. (2021). Simultaneous screening of the FRAXA and FRAXE loci for rapid detection of FMR1 CGG and/or AFF2 CCG repeat expansions by triplet-primed PCR. The Journal of Molecular Diagnostics, 23(8), 941-951.
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2021 Aref-Eshghi, E., Kerkhof, J., Pedro, V. P., France, G. D. I., Barat-Houari, M., Ruiz-Pallares, N., . . . Sadikovic, B. (2021). Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.. American journal of human genetics, 108(6), 1161-1163.
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2021 de Nys, R., Sharma, R., & Gecz, J. (2021). Protocadherin 19 clustering epilepsy and neurosteroids: opportunities for intervention. International Journal of Molecular Sciences, 22(18), 9769-1-9769-14.
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2021 Jin, S. C., Lewis, S. A., Bakhtiari, S., Zeng, X., Sierant, M. C., Shetty, S., . . . Kruer, M. C. (2021). Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.. Nat Genet, 53(3), 412.
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2021 Tasheva, S., Nieto Guil, A. F., Homan, C. C., Gecz, J., & Thomas, P. Q. (2021). Disrupted excitatory synaptic contacts and altered neuronal network activity underpins the neurological phenotype in PCDH19-clustering epilepsy (PCDH19-CE). Molecular Neurobiology, 58(5), 2005-2018.
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2021 Dingemans, A. J. M., Stremmelaar, D. E., Vissers, L. E. L. M., Jansen, S., Nabais Sá, M. J., van Remortele, A., . . . de Vries, B. B. A. (2021). Human disease genes website series: An international, open and dynamic library for up-to-date clinical information. American Journal of Medical Genetics Part A, 185A(4), 1039-1046.
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2021 DIMITROVA, D. I. L. Y. A. N. A., BRAZANE, M. I. R. A., TAO, Y. E., MARCHAND, V. I. R. G. I. N. I. E., SCHAEFER, E. L. I. S. E., STARK, Z. O. R. N. I. T. Z. A., . . . CARRE, C. L. E. M. E. N. T. (2021). Human RNA Nm-MTase FTSJ1: new tRNA targets and role in the regulation of brain-specific genes.. Obesity, Fitness & Wellness Week.
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2021 Whalen, S., Shaw, M., Mignot, C., Héron, D., Bastaraud, S. C., Walti, C. C., . . . Villard, L. (2021). Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants. European Journal of Human Genetics, 29(9), 1405-1417.
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2021 Heron, S. E., Regan, B. M., Harris, R. V., Gardner, A. E., Coleman, M. J., Bennett, M. F., . . . Berkovic, S. F. (2021). Association of SLC32A1 missense variants with genetic epilepsy with febrile seizures plus. Neurology, 96(18), 1-10.
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2021 Ahmed, R., Sarwar, S., Hu, J., Cardin, V., Qiu, L. R., Zapata, G., . . . Picketts, D. J. (2021). Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson-Forssman-Lehmann Syndrome (BFLS).. Human Molecular Genetics, 30(7), 575-594.
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2021 Field, M. J., Sharma, R., Hackett, A., Kayumi, S., Shoubridge, C., Ewans, L. J., . . . Corbett, M. A. (2021). Different types of disease-causing non-coding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability. Human Mutation, 42(7), 835-847.
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2021 Jones, J. L., Corbett, M. A., Yeaman, E., Zhao, D., Gecz, J., Gasperini, R. J., . . . Burdon, K. P. (2021). A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract. European Journal of Human Genetics, 29(8), 1206-1215.
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2021 Gillentine, M. A., Wang, T., Hoekzema, K., Rosenfeld, J., Liu, P., Guo, H., . . . Eichler, E. E. (2021). Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders. Genome Medicine, 13(1), 63-1-63-26.
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2021 Gecz, J., & Berry, J. G. (2021). Cerebral palsy with autism and ADHD: time to pay attention. Developmental Medicine and Child Neurology, 63(3), 247-248.
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2020 Jolly, L. A., Parnell, E., Gardner, A. E., Corbett, M. A., Pérez-Jurado, L. A., Shaw, M., . . . Gecz, J. (2020). Missense variant contribution to USP9X-female syndrome. npj Genomic Medicine, 5(1), 1-11.
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2020 Kolc, K. L., Møller, R. S., Sadleir, L. G., Scheffer, I. E., Sharma, R., & Gecz, J. (2020). PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum.. Adv Exp Med Biol, 10, 177-187.
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2020 Jin, S. C., Lewis, S. A., Bakhtiari, S., Zeng, X., Sierant, M. C., Shetty, S., . . . Kruer, M. C. (2020). Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nature Genetics, 52(10), 1046-1056.
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2020 Wang, T., Hoekzema, K., Vecchio, D., Wu, H., Sulovari, A., Coe, B. P., . . . Eichler, E. E. (2020). Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Nature Communications, 11(1), 4932-1-4932-13.
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2020 Garg, P., Jadhav, B., Rodriguez, O. L., Patel, N., Martin-Trujillo, A., Jain, M., . . . Sharp, A. J. (2020). A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions. American Journal of Human Genetics, 107(4), 654-669.
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2020 Wang, T., Hoekzema, K., Vecchio, D., Wu, H., Sulovari, A., Coe, B. P., . . . Eichler, E. E. (2020). Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.. Nat Commun, 11(1), 5398.
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2020 McRae, H. M., Eccles, S., Whitehead, L., Alexander, W. S., Gécz, J., Thomas, T., & Voss, A. K. (2020). Downregulation of the GHRH/GH/IGF1 axis in a mouse model of Börjeson-Forssman-Lehman syndrome. Development, 147(21), 1-12.
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2020 Palmer, E. E., Carroll, R., Shaw, M., Sharma, R., Minoche, A. E., Leffler, M., . . . Gecz, J. (2020). RLIM Is a candidate dosage-sensitive gene for individuals with varying duplications of Xq13, intellectual disability, and distinct facial features. American Journal of Human Genetics, 107(6), 1157-1169.
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2020 Johnson, B. V., Gecz, J., Jolly, L., Sharma, R., Corbett, M., Perez-Jurado, L., . . . Domingo, D. (2020). Partial loss of USP9X function leads to a male neurodevelopmental and behavioural disorder converging on TGFβ signalling. Biological Psychiatry, 87(2), 100-112.
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2020 Kolc, K. L., Sadleir, L. G., Depienne, C., Marini, C., Scheffer, I. E., Møller, R. S., . . . Gecz, J. (2020). A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy. Translational Psychiatry, 10(1), 127-1-127-9.
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2020 Hildebrand, M. S., Jackson, V. E., Scerri, T. S., Van Reyk, O., Coleman, M., Braden, R. O., . . . Morgan, A. T. (2020). Severe childhood speech disorder: gene discovery highlights transcriptional dysregulation. Neurology, 94(20), e2148-e2167.
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2020 Thai, H., Gardner, A., Redpath, L., Mattiske, T., Dearsley, O., Shaw, M., . . . Shoubridge, C. (2020). Constraint and conservation of the paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance. Human Mutation, 41(8), 1407-1424.
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2020 Pham, R., Mol, B. W., Gecz, J., MacLennan, A. H., MacLennan, S. C., Corbett, M. A., . . . Berry, J. G. (2020). Definition and diagnosis of cerebral palsy in genetic studies: a systematic review. Developmental Medicine and Child Neurology, 62(9), 1024-1030.
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2020 Domingo, D., Nawaz, U., Corbett, M., Espinoza, J. L., Tatton-Brown, K., Coman, D., . . . Jolly, L. A. (2020). A synonymous UPF3B variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networks. Human Molecular Genetics, 29(15), 2568-2578.
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2020 Carroll, R., Shaw, M., Arvio, M., Gardner, A., Kumar, R., Hodgson, B., . . . Gecz, J. (2020). Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion. European Journal of Medical Genetics, 63(10), 1-6.
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2020 Gecz, J., & Thomas, P. Q. (2020). Disentangling the paradox of the PCDH19 clustering epilepsy, a disorder of cellular mosaics. Current Opinion in Genetics and Development, 65, 169-175.
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2020 Ziats, C. A., Schwartz, C. E., Gecz, J., Shaw, M., Field, M. J., Stevenson, R. E., & Neri, G. (2020). X-linked Intellectual Disability: Phenotypic Expression in Carrier Females.. Clinical Genetics, 97(3), 418-425.
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2020 Sadleir, L. G., Kolc, K. L., King, C., Mefford, H. C., Dale, R. C., Gecz, J., & Scheffer, I. E. (2020). Levetiracetam efficacy in PCDH19 Girls Clustering Epilepsy. European Journal of Paediatric Neurology, 24, 142-147.
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2020 Pravata, V. M., Omelková, M., Stavridis, M. P., Desbiens, C. M., Stephen, H. M., Lefeber, D. J., . . . van Aalten, D. M. F. (2020). An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase.. European Journal of Human Genetics, 28(6), 706-714.
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2020 Aref-Eshghi, E., Kerkhof, J., Pedro, V. P., Barat-Houari, M., Ruiz-Pallares, N., Andrau, J. C., . . . Sadikovic, B. (2020). Evaluation of DNA methylation episignatures for diagnosis and phenotype correlations in 42 mendelian neurodevelopmental disorders. American Journal of Human Genetics, 106(3), 356-370.
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2020 Kumar, R., Palmer, E., Gardner, A. E., Carroll, R., Banka, S., Abdelhadi, O., . . . Gecz, J. (2020). Expanding clinical presentations due to variations in THOC2 mRNA nuclear export factor. Front Mol Neurosci, 13, 15 pages.
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2020 Gan, L., Sun, J., Yang, S., Zhang, X., Chen, W., Sun, Y., . . . Huang, J. (2020). Chromatin-binding protein PHF6 regulates activity-dependent transcriptional networks to promote hunger response. Cell Reports, 30(11), 3717-3728.e6.
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2020 Bennett, M. F., Oliver, K. L., Regan, B. M., Bellows, S. T., Schneider, A. L., Rafehi, H., . . . Bahlo, M. (2020). Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families. European journal of human genetics : EJHG, 28(7), 973-978.
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2019 Jackson, M. R., Loring, K. E., Homan, C. C., Thai, H. N., Määttänen, L., Arvio, M., . . . Shoubridge, C. (2019). Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females. Life Science Alliance, 2(4), e201900386-1-e201900386-18.
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2019 Mucha, B. E., Banka, S., Ajeawung, N. F., Molidperee, S., Chen, G. G., Koenig, M. K., . . . Campeau, P. M. (2019). Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay (Genetics in Medicine, (2019), 21, 5, (1058-1064), 10.1038/s41436-018-0290-3). Genetics in Medicine, 21(9), 2159-2160.
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2019 Srivastava, S., Niranjan, T., May, M. M., Tarpey, P., Allen, W., Hackett, A., . . . Wang, T. (2019). Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders. Molecular Genetics and Genomic Medicine, 7(4), e569-1-e569-10.
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2019 Guo, H., Li, Y., Shen, L., Wang, T., Jia, X., Liu, L., . . . Xia, K. (2019). Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission. Science Advances, 5(9), 1-17.
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2019 Johnson, J. L., Stoica, L., Liu, Y., Zhu, P. J., Bhattacharya, A., Buffington, S., . . . Costa-Mattioli, M. (2019). Inhibition of Upf2-dependent nonsense-mediated decay leads to behavioral and neurophysiological abnormalities by activating the immune response. Neuron, 104(4), 665-679.e8.
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2019 Guo, H., Bettella, E., Marcogliese, P. C., Zhao, R., Andrews, J. C., Nowakowski, T. J., . . . Gecz, J. (2019). Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.. Nature communications, 10(1), 4679.
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2019 Poeta, L., Padula, A., Attianese, B., Valentino, M., Verrillo, L., Filosa, S., . . . Miano, M. G. (2019). Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders.. Human molecular genetics, 28(24), 4089-4102.
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2019 Shaw, M., Winczewska-Wiktor, A., Badura-Stronka, M., Koirala, S., Gardner, A., Kuszel, Ł., . . . Gecz, J. (2019). EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities. European Journal of Medical Genetics, 63(4), 103799-1-103799-7.
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2019 Verrall, C. E., Blue, G. M., Loughran-Fowlds, A., Kasparian, N., Gecz, J., Walker, K., . . . Winlaw, D. (2019). 'Big issues' in neurodevelopment for children and adults with congenital heart disease. Open Heart, 6(2), 9 pages.
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2019 Corbett, M. A., Kroes, T., Veneziano, L., Bennett, M. F., Florian, R., Schneider, A. L., . . . Gecz, J. (2019). Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2. Nature Communications, 10(1), 4920.
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2019 Florian, R. T., Kraft, F., Leitão, E., Kaya, S., Klebe, S., Magnin, E., . . . Depienne, C. (2019). Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3. Nature Communications, 10(1), 4919-1-4919-14.
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2019 van Eyk, C. L., Corbett, M. A., Frank, M. S. B., Webber, D. L., Newman, M., Berry, J. G., . . . Gecz, J. (2019). Targeted resequencing identifies genes with recurrent variation in cerebral palsy. npj Genomic Medicine, 4(1), 27-1-27-11.
DOI Scopus29 WoS25 Europe PMC23
2019 Mucha, B. E., Banka, S., Ajeawung, N. F., Molidperee, S., Chen, G. G., Koenig, M. K., . . . Campeau, P. M. (2019). A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay. Genetics in Medicine, 21(5), 1058-1064.
DOI Scopus24 WoS23 Europe PMC20
2019 Khayat, W., Hackett, A., Shaw, M., Ilie, A., Dudding-Byth, T., Kalscheuer, V. M., . . . Orlowski, J. (2019). A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation. Human molecular genetics, 28(4), 598-614.
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2019 Mattioli, F., Isidor, B., Abdul-Rahman, O., Gunter, A., Huang, L., Kumar, R., . . . Piton, A. (2019). Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability. Human Molecular Genetics, 28(6), 952-960.
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2019 McRae, H. M., Garnham, A. L., Hu, Y., Witkowski, M. T., Corbett, M. A., Dixon, M. P., . . . Thomas, T. (2019). PHF6 regulates hematopoietic stem and progenitor cells and its loss synergizes with expression of TLX3 to cause leukemia. Blood, 133(16), 1729-1741.
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2019 Helbig, K. L., Lauerer, R. J., Bahr, J. C., Souza, I. A., Myers, C. T., Uysal, B., . . . Jacobsen, J. C. (2019). Erratum: De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias (The American Journal of Human Genetics (2018) 103(5) (666–678), (S0002929718303173), (10.1016/j.ajhg.2018.09.006)). American Journal of Human Genetics, 104(3), 562.
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2019 MacLennan, A. H., Lewis, S., Moreno-De-Luca, A., Fahey, M., Leventer, R. J., McIntyre, S., . . . Gecz, J. (2019). Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy. Journal of Child Neurology, 34(8), 472-476.
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2019 Jensen, L. R., Garrett, L., Hölter, S. M., Rathkolb, B., Rácz, I., Adler, T., . . . Kuss, A. W. (2019). A mouse model for intellectual disability caused by mutations in the X-linked 2′‑O‑methyltransferase Ftsj1 gene. Biochimica et Biophysica Acta - Molecular Basis of Disease, 1865(9), 2083-2093.
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2019 Corbett, M. A., van Eyk, C. L., Webber, D. L., Bent, S. J., Newman, M., Harper, K., . . . Gecz, J. (2019). Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy (npj Genomic Medicine, (2018), 3, 1, (33), 10.1038/s41525-018-0073-4). Npj Genomic Medicine, 4(1), 1 page.
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2019 Quartier, A., Courraud, J., Ha, T., McGillivray, G., Isidor, B., Rose, K., . . . Piton, A. (2019). Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment. Human Mutation, 40(11), 2021-2032.
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2018 Corbett, M. A., van Eyk, C. L., Webber, D. L., Bent, S. J., Newman, M., Harper, K., . . . Gecz, J. (2018). Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy. npj Genomic Medicine, 3(1), 33-1-33-9.
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2018 Mattiske, T., Tan, M., Dearsley, O., Cloosterman, D., Hii, C., Gécz, J., & Shoubridge, C. (2018). Regulating transcriptional activity by phosphorylation: a new mechanism for the ARX homeodomain transcription factor. PLoS ONE, 13(11), 1-24.
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2018 Niemi, M. E. K., Martin, H. C., Rice, D. L., Gallone, G., Gordon, S., Kelemen, M., . . . Barrett, J. C. (2018). Common genetic variants contribute to risk of rare severe neurodevelopmental disorders. Nature, 562(7726), 268-271.
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2018 Helbig, K. L., Lauerer, R. J., Bahr, J. C., Souza, I. A., Myers, C. T., Uysal, B., . . . Zamponi, G. W. (2018). De novo pathogenic variants in CACNA1E cause developmental and epileptic encephalopathy with contractures, macrocephaly, and dyskinesias. American Journal of Human Genetics, 103(5), 666-678.
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2018 Jolly, L., Sun, Y., Carroll, R., Homan, C., & Gecz, J. (2018). Robust imaging and gene delivery to study human lymphoblastoid cell lines. Journal of Human Genetics, 63(9), 945-955.
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2018 MacLennan, A., Gecz, J., & Pérez-Jurado, L. (2018). A genomic cause of cerebral palsy should not change the clinical classification. Annals of Clinical and Translational Neurology, 5(8), 1011.
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2018 Huang, L., Shum, E., Jones, S., Lou, C. -H., Dumdie, J., Kim, H., . . . Wilkinson, M. (2018). A Upf3b-mutant mouse model with behavioral and neurogenesis defects. Molecular Psychiatry, 23(8), 1773-1776.
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2018 Jansen, S., Hoischen, A., Coe, B., Carvill, G., van Esch, H., Bosch, D., . . . de Vries, B. (2018). A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency. European Journal of Human Genetics, 26(1), 54-63.
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2018 Pederick, D., Richards, K., Piltz, S., Kumar, R., Mincheva-Tasheva, S., Mandelstam, S., . . . Thomas, P. (2018). Abnormal cell sorting underlies the unique X-linked inheritance of PCDH19 epilepsy. Neuron, 97(1), 59-e5.
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2018 MacLennan, A. H., Kruer, M. C., Baynam, G., Moreno-De-Luca, A., Wilson, Y. A., Zhu, C., . . . Gecz, J. (2018). Cerebral palsy and genomics: an international consortium. Developmental Medicine and Child Neurology, 60(2), 209-210.
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2018 Choi, J., Jeong, Y., Kim, S., Lee, B., Ariyasiri, K., Kim, H., . . . Kim, C. (2018). Targeted knockout of a chemokine-like gene increases anxiety and fear responses. Proceedings of the National Academy of Sciences of the United States of America, 115(5), 1041-1050.
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2018 Cheng, H., Dharmadhikari, A., Varland, S., Ma, N., Domingo, D., Kleyner, R., . . . Lyon, G. (2018). Truncating variants in NAA15 are associated with variable levels of intellectual disability, autism spectrum disorder, and congenital anomalies. American Journal of Human Genetics, 102(5), 985-994.
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2018 Van Eyk, C., Corbett, M., Gardner, A., Van Bon, B., Broadbent, J., Harper, K., . . . Gecz, J. (2018). Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism. Translational Psychiatry, 8(1), 88 -1-88 -10.
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2018 Frints, S. G. M., Ozanturk, A., Rodríguez Criado, G., Grasshoff, U., de Hoon, B., Field, M., . . . Kalscheuer, V. M. (2018). Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. Molecular Psychiatry, 24(11), 1748-1768.
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2018 Homan, C., Pederson, S., To, T. -H., Tan, C., Piltz, S., Corbett, M., . . . Gecz, J. (2018). PCDH19 regulation of neural progenitor cell differentiation suggests asynchrony of neurogenesis as a mechanism contributing to PCDH19 Girls Clustering Epilepsy. Neurobiology of Disease, 116, 106-119.
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2018 Selvan, N., George, S., Serajee, F., Shaw, M., Hobson, L., Kalscheuer, V., . . . Wells, L. (2018). O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling. Journal of Biological Chemistry, 293(27), 10810-10824.
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2018 Kumar, R., Gardner, A., Homan, C., Douglas, E., Mefford, H., Wieczorek, D., . . . Gecz, J. (2018). Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery. Human mutation, 39(8), 1126-1138.
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2018 Kolc, K., Sadleir, L., Scheffer, I., Ivancevic, A., Roberts, R., Pham, D., & Gecz, J. (2018). A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity. Molecular Psychiatry, 24(2), 241-251.
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2018 Howell, K. B., Eggers, S., Dalziel, K., Riseley, J., Mandelstam, S., Myers, C. T., . . . Corbett, M. (2018). A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy. Epilepsia, 59(6), 1177-1187.
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2018 Niemi, M., Martin, H., Rice, D., Gallone, G., Gordon, S., Kelemen, M., . . . Barrett, J. (2018). Common genetic variants contribute to risk of rare severe neurodevelopmental disorders. bioRxiv.
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2018 Palmer, E., Stuhlmann, T., Weinert, S., Haan, E., van Esch, H., Holvoet, M., . . . Kalscheuer, V. (2018). De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. Molecular Psychiatry, 23(2), 222-230.
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2017 Fahey, M., Maclennan, A., Kretzschmar, D., Gecz, J., & Kruer, M. (2017). The genetic basis of cerebral palsy. Developmental Medicine and Child Neurology, 59(5), 462-469.
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2017 Stessman, H., Xiong, B., Coe, B., Wang, T., Hoekzema, K., Fenckova, M., . . . Eichler, E. (2017). Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. Nature Genetics, 49(4), 515-526.
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2017 Vaidyanathan, K., Niranjan, T., Selvan, N., Teo, C., May, M., Patel, S., . . . Wells, L. (2017). Identification and characterization of a missense mutation in the O-linked β-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability. Journal of Biological Chemistry, 292(21), 8948-8963.
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2017 Bridges, C., Tan, M., Premarathne, S., Nanayakkara, D., Bellette, B., Zencak, D., . . . Wood, S. (2017). USP9X deubiquitylating enzyme maintains RAPTOR protein levels, mTORC1 signalling and proliferation in neural progenitors. Scientific Reports, 7(1), 391-1-391-15.
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2017 Trivisano, M., Lucchi, C., Rustichelli, C., Terracciano, A., Cusmai, R., Ubertini, G., . . . Specchio, N. (2017). Reduced steroidogenesis in patients with PCDH19-female limited epilepsy. Epilepsia, 58(6), 91-95.
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2017 Gabriele, M., Vulto-van Silfhout, A., Germain, P., Vitriolo, A., Kumar, R., Douglas, E., . . . de Vries, B. (2017). YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction. American Journal of Human Genetics, 100(6), 907-925.
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2017 Donnio, L., Bidon, B., Hashimoto, S., May, M., Epanchintsev, A., Ryan, C., . . . Egly, J. (2017). MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression. Human Molecular Genetics, 26(11), 2062-2075.
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2017 Geisheker, M., Heymann, G., Wang, T., Coe, B., Turner, T., Stessman, H., . . . Eichler, E. (2017). Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. Nature Neuroscience, 20(8), 1043-1051.
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2017 Carroll, R., Kumar, R., Shaw, M., Slee, J., Kalscheuer, V., Corbett, M., & Gecz, J. (2017). Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction. European Journal of Human Genetics, 25(9), 1078-1082.
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2017 Corbett, M., Turner, S., Gardner, A., Silver, J., Stankovich, J., Leventer, R., . . . Gecz, J. (2017). Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations. European Journal of Medical Genetics, 60(8), 437-443.
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2017 Pham, D., Tan, C., Homan, C., Kolc, K. L., Corbett, M., McAninch, D., . . . Gecz, J. (2017). Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERα). Human Molecular Genetics, 26(11), 2042-2052.
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2017 Pederick, D., Richards, K., Piltz, S., Mandelstam, S., Dale, R., Scheffer, I., . . . Thomas, P. (2017). Abnormal cell sorting underlies the unique X-linked inheritance of PCDH19 Epilepsy. biorxiv.
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2017 Brickner, J., Soll, J., Lombardi, P., Vågbø, C., Mudge, M., Oyeniran, C., . . . Mosammaparast, N. (2017). A ubiquitin-dependent signalling axis specific for ALKBH-mediated DNA dealkylation repair. Nature, 551(7680), 389-393.
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2017 Coman, D., Fullston, T., Shoubridge, C., Leventer, R., Wong, F., Nazaretian, S., . . . McGillivray, G. (2017). X-Linked lissencephaly with absent corpus callosum and abnormal genitalia: an evolving multisystem syndrome with severe congenital intestinal diarrhea disease. Child Neurology o\Open, 4, 1-6.
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2017 Palmer, E. E., Kumar, R., Gordon, C. T., Shaw, M., Hubert, L., Carroll, R., . . . Gecz, J. (2017). A recurrent de novo nonsense variant in ZSWIM6 results in severe intellectual disability without frontonasal or limb malformations. American Journal of Human Genetics, 101(6), 995-1005.
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2016 Rajan, S., Babazade, R., Khanna, A. K., & Turan, A. (2016). Perioperative factors associated with acute kidney injury after partial nephrectomy Reply. BRITISH JOURNAL OF ANAESTHESIA, 117(5), 671.
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2016 Zhu, F., Wang, F., Yang, X., Zhang, J., Wu, H., Zhang, Z., . . . Cao, Y. (2016). Erratum: Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome (American Journal of Human Genetics (2016) 99(4) (942–949) (S0002929716303275) (10.1016/j.ajhg.2016.08.004)). American Journal of Human Genetics, 99(6), 1405.
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2016 Mattiske, T., Lee, K., Gecz, J., Friocourt, G., & Shoubridge, C. (2016). Embryonic forebrain transcriptome of mice with polyalanine expansion mutations in the ARX homeobox gene. Human Molecular Genetics, 25(24), 5433-5443.
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2016 Rigbye, K., van Hasselt, P., Burgess, R., Damiano, J., Mullen, S., Petrovski, S., . . . Hildebrand, M. (2016). Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?. Epilepsy Research, 128, 48-51.
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2016 Eggers, S., Sadedin, S., van den Bergen, J., Robevska, G., Ohnesorg, T., Hewitt, J., . . . Harley, V. (2016). Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort. Genome Biology, 17(1), 243-1-243-21.
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2016 Koolen, D. A., Pfundt, R., Linda, K., Beunders, G., Veenstra-Knol, H. E., Conta, E. H., . . . De Vries, B. B. A. (2016). The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. European Journal of Human Genetics, 24(5), 652-659.
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2016 Zhu, F., Wang, F., Yang, X., Zhang, J., Wu, H., Zhang, Z., . . . Cao, Y. (2016). Biallelic SUN5 mutations cause autosomal-recessive acephalic spermatozoa syndrome. American Journal of Human Genetics, 99(4), 942-949.
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2016 Corbett, M. A., Bellows, S. T., Li, M., Carroll, R., Micallef, S., Carvill, G. L., . . . Gecz, J. (2016). Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy. Neurology, 87(19), 1975-1984.
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2016 Myers, C., McMahon, J., Schneider, A., Petrovski, S., Allen, A., Carvill, G., . . . Mefford, H. (2016). De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies. American Journal of Human Genetics, 99(2), 287-298.
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2016 Ha, T., Sadleir, L., Mandelstam, S., Paterson, S., Scheffer, I., Gecz, J., & Corbett, M. (2016). A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts. American Journal of Medical Genetics Part A, 170(4), 1059-1063.
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2016 Afawi, Z., Oliver, K. L., Kivity, S., Mazarib, A., Blatt, I., Neufeld, M. Y., . . . Berkovic, S. F. (2016). Multiplex families with epilepsy: success of clinical and molecular genetic characterization. Neurology, 86(8), 713-722.
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2016 Maclennan, A. H., Thompson, S. C., & Gecz, J. (2016). Reply. American Journal of Obstetrics and Gynecology, 214(5), 671.
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2016 Reijnders, M., Zachariadis, V., Latour, B., Jolly, L., Mancini, G., Pfundt, R., . . . Kleefstra, T. (2016). De novo loss-of-function mutations in USP9X cause a female-specific recognizable syndrome with developmental delay and congenital malformations. American Journal of Human Genetics, 98(2), 373-381.
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2016 Stessman, H., Willemsen, M., Fenckova, M., Penn, O., Hoischen, A., Xiong, B., . . . Kleefstra, T. (2016). Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. American Journal of Human Genetics, 98(3), 541-552.
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2016 Friez, M., Brooks, S., Stevenson, R., Field, M., Basehore, M., Adès, L., . . . Schwartz, C. (2016). HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study. BMJ Open, 6(4), e009537-1-e009537-9.
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2016 Hughes, J., Aubert, M., Heatlie, J., Gardner, A., Gecz, J., Morgan, T., . . . Thomas, P. (2016). Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism. Clinical Endocrinology, 85(4), 609-615.
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2016 Kumar, R., Ha, T., Pham, D., Shaw, M., Mangelsdorf, M., Friend, K. L., . . . Gecz, J. (2016). A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability. European Journal of Human Genetics, 24(11), 1612-1616.
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2016 Pederick, D., Homan, C., Jaehne, E., Piltz, S., Haines, B., Baune, B., . . . Thomas, P. (2016). Pcdh19 loss-of-function increases neuronal migration in vitro but is dispensable for brain development in mice. Scientific Reports, 6(26765), 26765-1-26765-10.
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2016 Henden, L., Freytag, S., Afawi, Z., Baldassari, S., Berkovic, S., Bisulli, F., . . . Bahlo, M. (2016). Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2. Human Genetics, 135(10), 1117-1125.
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2016 Smogavec, M., Cleall, A., Hoyer, J., Lederer, D., Nassogne, M., Palmer, E., . . . Zweier, C. (2016). Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum. Journal of Medical Genetics, 53(12), 820-827.
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2016 Balestrini, S., Milh, M., Castiglioni, C., Lüthy, K., Finelli, M., Verstreken, P., . . . Sisodiya, S. (2016). TBC1D24 genotype-phenotype correlation. Neurology, 87(1), 77-85.
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2016 Palmer, E., Leffler, M., Rogers, C., Shaw, M., Carroll, R., Earl, J., . . . Field, M. (2016). New insights into Brunner syndrome and potential for targeted therapy. Clinical Genetics, 89(1), 120-127.
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2016 Moey, C., Hinze, S., Brueton, L., Morton, J., McMullan, D., Kamien, B., . . . Shoubridge, C. (2016). Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders. European Journal of Human Genetics, 24(3), 373-380.
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2016 Hu, H., Haas, S., Chelly, J., Van Esch, H., Raynaud, M., De Brouwer, A., . . . Kleefstra, T. (2016). X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Molecular Psychiatry, 21(1), 133-148.
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2016 van Bon, B. W. M., Coe, B. P., Bernier, R., Green, C., Gerdts, J., Witherspoon, K., . . . Eichler, E. E. (2016). Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. Molecular Psychiatry, 21(1), 126-132.
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2015 Jolly, L., Nguyen, L., Domingo, D., Sun, Y., Barry, S., Hancarova, M., . . . Gecz, J. (2015). HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.. Human Molecular Genetics, 24(12), 3335-3347.
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2015 Paemka, L., Mahajan, V., Ehaideb, S., Skeie, J., Tan, M., Wu, S., . . . Bassuk, A. (2015). Seizures are regulated by ubiquitin-specific peptidase 9 x-linked (USP9X), a de-ubiquitinase. PLoS Genetics, 11(3), e1005022-1-e1005022-16.
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2015 Haines, B., Hughes, J., Corbett, M., Shaw, M., Innes, J., Patel, L., . . . Thomas, P. (2015). Interchromosomal insertional translocation at Xq26.3 alters SOX3 expression in an individual with XX male sex reversal. The Journal of Clinical Endocrinology & Metabolism, 100(5), E815-E820.
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2015 McMichael, G., Bainbridge, M., Haan, E., Corbett, M., Gardner, A., Thompson, S., . . . MacLennan, A. (2015). Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy. Molecular Psychiatry, 20(2), 176-182.
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2015 Brookes, E., Laurent, B., Õunap, K., Carroll, R., Moeschler, J., Field, M., . . . Shi, Y. (2015). Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity. Human Molecular Genetics, 24(10), 2861-2872.
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2015 Murtaza, M., Jolly, L., Gecz, J., & Wood, S. (2015). La FAM fatale: USP9X in development and disease. Cellular and Molecular Life Sciences, 72(11), 2075-2089.
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2015 Tan, C., Shard, C., Ranieri, E., Hynes, K., Pham, D., Leach, D., . . . Gecz, J. (2015). Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency. Human Molecular Genetics, 24(18), 5250-5259.
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2015 Kumar, R., Corbett, M., Van Bon, B., Woenig, J., Weir, L., Douglas, E., . . . Gecz, J. (2015). THOC2 mutations implicate mRNA-export pathway in X-linked intellectual disability. American Journal of Human Genetics, 97(2), 302-310.
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2015 Shaw, M., Yap, T., Henden, L., Bahlo, M., Gardner, A., Kalscheuer, V., . . . Gecz, J. (2015). Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome. European Journal of Medical Genetics, 58(6-7), 364-368.
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2015 MacLennan, A., Thompson, S., & Gecz, J. (2015). Cerebral palsy: causes, pathways, and the role of genetic variants. American Journal of Obstetrics and Gynecology, 213(6), 779-788.
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2015 Snijders Blok, L., Madsen, E., Juusola, J., Gilissen, C., Baralle, D., Reijnders, M., . . . Kleefstra, T. (2015). Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling. American Journal of Human Genetics, 97(2), 343-352.
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2015 Geczova, L., Soltysova, A., Gecz, J., Sufliarska, S., Horakova, J., & Mladosievicova, B. (2015). Avascular necrosis of bone in childhood cancer patients: A possible role of genetic susceptibility. Bratislava Medical Journal, 116(5), 289-295.
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2015 Guy, M., Shaw, M., Weiner, C., Hobson, L., Stark, Z., Rose, K., . . . Phizicky, E. (2015). Defects in tRNA anticodon loop 2′-O-methylation are implicated in nonsyndromic X-linked intellectual disability due to mutations in FTSJ1. Human Mutation, 36(12), 1176-1187.
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2015 Grozeva, D., Carss, K., Spasic-Boskovic, O., Tejada, M., Gecz, J., Shaw, M., . . . Raymond, F. (2015). Targeted next-generation sequencing analysis of 1,000 individuals with intellectual disability. Human Mutation, 36(12), 1197-1204.
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2015 Ishibashi, M., Manning, E., Shoubridge, C., Krecsmarik, M., Hawkins, T., Giacomotto, J., . . . Rinkwitz, S. (2015). Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene. Human Genetics, 134(11-12), 1163-1182.
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2015 Kumar, R., Corbett, M., Van Bon, B., Gardner, A., Woenig, J., Jolly, L., . . . Gecz, J. (2015). Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems. Human Molecular Genetics, 24(25), 7171-7181.
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2015 Corbett, M. A., Dudding-Byth, T., Crock, P. A., Botta, E., Christie, L. M., Nardo, T., . . . Field, M. (2015). A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A. Journal of Medical Genetics, 52(4), 269-274.
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2015 Ramos-Brossier, M., Montani, C., Lebrun, N., Gritti, L., Martin, C., Seminatore-Nole, C., . . . Billuart, P. (2015). Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis. Human Molecular Genetics, 24(4), 1106-1118.
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2015 Phillips-Krawczak, C., Singla, A., Starokadomskyy, P., Deng, Z., Osborne, D., Li, H., . . . Burstein, E. (2015). COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A. Molecular Biology of the Cell, 26(1), 91-103.
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2015 Kumar, R., Corbett, M., Smith, N., Jolly, L., Tan, C., Keating, D., . . . Gecz, J. (2015). Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder. Human Molecular Genetics, 24(7), 2000-2010.
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2015 Gecz, J., & Corbett, M. (2015). Developmental disorders: deciphering exomes on a grand scale. The Lancet, 385(9975), 1266-1267.
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2015 Geczova, L., Soltysova, A., Gecz, J., Sufliarska, S., Horakova, J., & Mladosievicova, B. (2015). Avascular necrosis of bone in childhood cancer patients: a possible role of genetic susceptibility. Bratislavské lekárske listy, 116(5), 289-295.
2014 Coe, B., Witherspoon, K., Rosenfeld, J., van Bon, B., Vulto-van Silfhout, A., Bosco, P., . . . Eichler, E. (2014). Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nature Genetics, 46(10), 1063-1071.
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2014 Metsu, S., Rooms, L., Rainger, J., Taylor, M., Bengani, H., Wilson, D., . . . Kooy, R. (2014). FRA2A is a CGG repeat expansion associated with silencing of AFF3. PLoS Genetics, 10(4), e1004242-1-e1004242-14.
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2014 Homan, C., Kumar, R., Nguyen, L., Haan, E., Raymond, F., Abidi, F., . . . Jolly, L. (2014). Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth. American Journal of Human Genetics, 94(3), 470-478.
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2014 Scheffer, I., Heron, S., Regan, B., Mandelstam, S., Crompton, D., Hodgson, B., . . . Dibbens, L. (2014). Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. Annals of Neurology, 75(5), 782-787.
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2014 Berkovic, S., & Gecz, J. (2014). Phenotype-genotype complexities: opening DOORS. The Lancet Neurology, 13(1), 24-25.
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2014 Gécz, J., Gecíková, M., Géczová, L., Brenner, M., & Buchanec, J. (2014). Dextrometorfán v rukách adolescenta-lacný a legálny lístok na "výlet". Cesko-Slovenska Pediatrie, 69(6), 381-385.
2014 Nguyen, L., Wilkinson, M., & Gecz, J. (2014). Nonsense-mediated mRNA decay: Inter-individual variability and human disease. Neuroscience and Biobehavioral Reviews, 46(Part 2), 175-186.
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2014 Lee, K., Mattiske, T., Kitamura, K., Gecz, J., & Shoubridge, C. (2014). Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation. Human Molecular Genetics, 23(4), 1084-1094.
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2013 Jolly, L., Homan, C., Jacob, R., Barry, S., & Gecz, J. (2013). The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth. Human Molecular Genetics, 22(23), 4673-4687.
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2013 McMichael, G., Haan, E., Gardner, A., Yap, T., Thompson, S., Ouvrier, R., . . . MacLennan, A. (2013). NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy. European Journal of Medical Genetics, 56(9), 506-509.
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2013 McMichael, G., Girirajan, S., Moreno-De-Luca, A., Gecz, J., Shard, C., Nguyen, L., . . . MacLennan, A. (2013). Rare copy number variation in cerebral palsy. European Journal of Human Genetics, 22(1), 40-45.
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2013 Melko, M., Nguyen, L., Shaw, M., Jolly, L., Bardoni, B., & Gecz, J. (2013). Loss of FMR2 further emphasizes the link between deregulation of immediate early response genes FOS and JUN and intellectual disability. Human Molecular Genetics, 22(15), 2984-2991.
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2013 Stegeman, S., Jolly, L., Premarathne, S., Gecz, J., Richards, L., Mackay-Sim, A., & Wood, S. (2013). Loss of Usp9x disrupts cortical architecture, hippocampal development and TGFβ-mediated axonogenesis. PLoS One, 8(7), 1-12.
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2013 Afawi, Z., Mandelstam, S., Korczyn, A., Kivity, S., Walid, S., Shalata, A., . . . Jackson, G. (2013). TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation. Epilepsy Research, 105(1-2), 240-244.
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2013 Hirata, H., McMichael, G., Haan, E., MacLennan, A., Yap, T., Nguyen, L., . . . Gecz, J. (2013). ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. American Journal of Human Genetics, 92(5), 681-695.
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2013 Starokadomskyy, P., Gluck, N., Li, H., Chen, B., Wallis, M., Maine, G., . . . Burstein, E. (2013). CCDC22 deficiency in humans blunts activation of proinfammatory NF-KappaB signaling. Journal of Clinical Investigation, 123(5), 2244-2256.
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2013 Lomax, L., Bayly, M., Hjalgrim, H., Moller, R., Vlaar, A., Aaberg, K., . . . Berkovic, S. (2013). 'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation. Brain, 136(4), 1146-1154.
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2013 Dibbens, L., de Vries, B., Donatello, S., Heron, S., Hodgson, B., Chintawar, S., . . . Scheffer, I. (2013). Mutations in DEPDC5 cause familial focal epilepsy with variable foci. Nature Genetics, 45(5), 546-551.
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2013 Nguyen, L., Kim, H., Rosenfeld, J., Shen, Y., Gusella, J., Lacassie, Y., . . . Gecz, J. (2013). Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders. Human Molecular Genetics, 22(9), 1816-1825.
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2013 Poeta, L., Fusco, F., Drongitis, D., Shoubridge, C., Manganelli, G., Filosa, S., . . . Miano, M. (2013). A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX. American Journal of Human Genetics, 92(1), 114-125.
DOI Scopus45 WoS42 Europe PMC38
2013 Le Fevre, A., Taylor, S., Malek, N., Horn, D., Carr, C., Abdul-Rahman, O., . . . Hunter, M. (2013). FOXP1 mutations cause intellectual disability and a recognizable phenotype. American Journal of Medical Genetics. Part A, 2013(12), 3166-3175.
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2013 Kalscheuer, V., Iqbal, Z., Hu, H., Haas, S., Shaw, M., Lebrun, N., . . . Gecz, J. (2013). RAB40AL loss-of-function mutation does not cause X-linked intellectual disability. Journal of Medical Genetics, 49(5), 332.
2012 Gecz, J., & Haan, E. (2012). New mutations and sporadic intellectual disability. Lancet, 380(9854), 1630-1631.
DOI Scopus2 WoS1 Europe PMC1
2012 Rujirabanjerd, S., Nelson, J., Tarpey, P. S., Hackett, A., Edkins, S., Raymond, F. L., . . . Gecz, J. (2012). Erratum: Identification and characterization of two novel JARID1C mutations: Suggestion of an emerging genotype-phenotype correlation (European Journal of Human Genetics (2010) 18 (330-335) DOI: 10.1038/ejhg.2009.175). European Journal of Human Genetics, 20(9), 1010.
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2012 Shoubridge, C., & Gecz, J. (2012). Polyalanine tract disorders and neurocognitive phenotypes. Advances in Experimental Medicine and Biology, 769, 185-203.
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2012 Barnett, C., Mencel, J., Gecz, J., Kirwin, S., Waters, W., Vinette, K., . . . Nicholl, J. (2012). Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2-1. American Journal of Medical Genetics. Part A, 158A(12), 3168-3173.
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2012 Huang, L., Jolly, L., Willis-Owen, S., Gardner, A., Sharma, R., Douglas, E., . . . Gecz, J. (2012). A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. American Journal of Human Genetics, 91(4), 694-702.
DOI Scopus84 WoS76 Europe PMC83
2012 Huang, L., Poke, G., Gecz, J., & Gibson, K. (2012). A novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability. American Journal of Medical Genetics. Part A, 2012(10), 2511-2518.
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2012 Shoubridge, C., Gardner, A., Schwartz, C., Hackett, A., Field, M., & Gecz, J. (2012). Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?. European Journal of Human Genetics, 2012(12), 1-4.
DOI Scopus9 WoS8 Europe PMC5
2012 Tlili, A., Hoischen, A., Ripoll, C., Benabou, E., Badel, A., Ronan, A., . . . Janel, N. (2012). BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down Syndrome patients. Molecular Neurobiology, 46(2), 297-303.
DOI Scopus18 WoS18 Europe PMC17
2012 Lynch, S., Nguyen, L., Ng, L., Waldron, M., McDonald, D., & Gecz, J. (2012). Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay. European Journal of Medical Genetics, 55(8-9), 476-479.
DOI Scopus32 WoS29 Europe PMC32
2012 Field, M., Scheffer, I., Gill, D., Wilson, M., Christie, L., Shaw, M., . . . Gecz, J. (2012). Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations. European Journal of Human Genetics, 20(7), 806-809.
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2012 Shoubridge, C., Tan, M., Seiboth, G., & Gecz, J. (2012). ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression. Human Molecular Genetics, 21(7), 1639-1647.
DOI Scopus21 WoS19 Europe PMC19
2012 Nguyen, L., Jolly, L., Shoubridge, C., Chan, W., Huang, L., Laumonnier, F., . . . Gecz, J. (2012). Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability. Molecular Psychiatry, 17(11), 1103-1115.
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2012 Heron, S., Grinton, B., Kivity, S., Afawi, Z., Zuberi, S., Hughes, J., . . . Dibbens, L. (2012). PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. American Journal of Human Genetics, 90(1), 152-160.
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2012 Voineagu, J., Huang, L., Winden, K., Lazaro, M., Haan, E., Nelson, J., . . . Geschwind, D. (2012). CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. Molecular Psychiatry, 17(1), 4-7.
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2011 Fullston, T., Gabb, B., Callen, D., Ullmann, R., Woollatt, E., Bain, S., . . . Gecz, J. (2011). Inherited Balanced Translocation t(9;17)(q33.2;q25.3) Concomitant With a 16p13.1 Duplication in a Patient With Schizophrenia. American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 156(2), 204-214.
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2011 Jensen, L., Wei, C., Moser, B., Lipkowitz, B., Schroeder, C., Musante, L., . . . Kuss, A. (2011). Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1. European Journal of Human Genetics, 19(6), 717-720.
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2011 Corbett, M., Schwake, M., Bahlo, M., Dibbens, L., Lin, M., Gandolfo, L., . . . Berkovic, S. (2011). A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. American Journal of Human Genetics, 88(5), 657-663.
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2011 Fullston, T., Finnis, M., Hackett, A., Hodgson, B., Brueton, L., Baynam, G., . . . Gecz, J. (2011). Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene. Clinical Genetics, 80(6), 510-522.
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2011 Bruno, I., Karam, R., Huang, L., Bhardwaj, A., Lou, C., Shum, E., . . . Wilkinson, M. (2011). Identification of a microRNA that activates gene expression by repressing nonsense-mediated RNA decay. Molecular Cell, 42(4), 500-510.
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2011 Melko, M., Douguet, D., Bensaid, M., Zongaro, S., Verheggen, C., Gecz, J., & Bardoni, B. (2011). Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability. Human Molecular Genetics, 20(10), 1873-1885.
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2011 Mulley, J. C., Heron, S. E., Wallace, R. H., Gecz, J., & Dibbens, L. M. (2011). "Blinders, phenotype, and fashionable genetic analysis": setting the record straight for epilepsy!. Epilepsia, 52(9), 1757-1758.
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2011 DIBBENS LEANNE MICHELLE., SCHEFFER INGRID EILEEN., BERKOVIC SAMUEL FRANK., MULLEY JOHN CHARLES., & GECZ JOZEF. (2011). DIAGNOSTIC AND THERAPEUTIC METHODS FOR EFMR (EPILEPSY AND MENTAL RETARDATION LIMITED TO FEMALES).
2011 Landgraf, S., Amado, I., Purkhart, R., Ries, J., Olie, J. -P., & van der Meer, E. (2011). Visuo-spatial cognition in schizophrenia: Confirmation of a preference for local information processing. SCHIZOPHRENIA RESEARCH, 127(1-3), 163-170.
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2010 Gécz, J. (2010). Glutamate receptors and learning and memory. Nature Genetics, 42(11), 925-926.
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2010 Hackett, A., Tarpey, P. S., Licata, A., Cox, J., Whibley, A., Boyle, J., . . . Abidi, F. E. (2010). Erratum: CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes (European Journal of Human Genetics (2010) 18 (554-552) doi:10.1038/ejhg.2009.220). European Journal of Human Genetics, 18(5), 552.
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2010 Shoubridge, C., Walikonis, R., Gecz, J., & Harvey, R. (2010). Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability. Small GTPases, 1(2), 98-103.
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2010 Gecz, J. (2010). Disruption at the PTCHD1 locus on Xp22.11 in Autism Spectrum Disorder and intellectual disability. Science Translational Medicine, 2(49), 1-9.
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2010 Gecz, J. (2010). Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. American Journal of Human Genetics, 87(6), 905-914.
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2010 Corbett, M., & Gecz, J. (2010). Great expectations: using massively parallel sequencing to solve inherited disorders. Expert Review of Molecular Diagnostics, 10(7), 833-836.
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2010 Hattersley, K., Laurie, K., Liebelt, J., Gecz, J., Durkin, S., Craig, J., & Burden, K. (2010). A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32. BMC Medical Genetics, 11(1), 165-1-165-6.
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2010 Bahlo, M., Jolly, L., Afawi, Z., Gardner, A., Oliver, K., Tan, S., . . . Corbett, M. (2010). A focal Eeilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. American Journal of Human Genetics, 87(3), 371-375.
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2010 Whibley, A., Plagnol, V., Tarpey, P., Abidi, F., Fullston, T., Choma, M., . . . Raymond, F. (2010). Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability. American Journal of Human Genetics, 87(2), 173-188.
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2010 Shoubridge, C., Fullston, T., & Gecz, J. (2010). ARX spectrum disorders: Making inroads into the molecular pathology. Human Mutation, 31(8), 889-900.
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2010 Scheffer, I., Zhang, Y., Gecz, J., & Dibbens, L. (2010). Genetics of the epilepsies: Genetic twists in the channels and other tales. Epilepsia, 51(s1), 33-36.
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2010 White, R., Ho, G., Schmidt, S., Scheffer, I., Fischer, A., Yendle, S., . . . Christodoulou, J. (2010). Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders. Twin Research and Human Genetics, 13(2), 168-178.
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2010 Shoubridge, C., Tan, M., Fullston, T., Cloosterman, D., Coman, D., McGillivray, G., . . . Gecz, J. (2010). Mutations in the nuclear localization sequence of the Aristaless related homeobox; Sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division. Pathogenetics, 3(1), 1-15.
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2010 Jensen, L., Bartenschlager, H., Rujirabanjerd, S., Tzschach, A., Numann, A., Janecke, A., . . . Kuss, A. (2010). A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C. Pathogenetics, 3(2), 9.
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2010 Shoubridge, C., Tarpey, P., Abidi, F., Ramsden, S., Rujirabanjerd, S., Murphy, J., . . . Gecz, J. (2010). Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. Nature Genetics, 42(6), 486-488.
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2010 Hackett, A., Tarpey, P., Licata, A., Cox, J., Whibley, A., Boyle, J., . . . Stratton, M. (2010). CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. European Journal of Human Genetics, 18(5), 544-552.
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2010 Van Vlierberghe, P., Palomero, T., Khiabanian, H., Van der Meulen, J., Castillo, M., Van Roy, N., . . . Ferrando, A. (2010). PHF6 mutations in T-cell acute lymphoblastic leukemia. Nature Genetics, 42(4), 338-342.
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2010 Lugtenberg, D., Zangrande-Vieira, L., Kirchhoff, M., Whibley, A., Oudakker, A., Kjaergaard, S., . . . de Brouwer, A. (2010). Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation. American Journal of Medical Genetics. Part A, 152(3), 638-645.
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2010 Giannandrea, M., Bianchi, V., Mignogna, M., Sirri, A., Carrabino, S., D'Elia, E., . . . D'Adamo, P. (2010). Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. American Journal of Human Genetics, 86(2), 185-195.
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2010 Haan, E., & Gecz, J. (2010). A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nature Genetics, 42(3), 203-210.
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2010 Fullston, T., Brueton, L., Willis, T., Philip, S., MacPherson, L., Finnis, M., . . . Morton, J. (2010). Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X). European Journal of Human Genetics, 18(2), 157-162.
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2010 Rujirabanjerd, S., Nelson, J., Tarpey, P., Hackett, A., Edkins, S., Raymond, F., . . . Gecz, J. (2010). Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation. European Journal of Human Genetics, 18(3), 330-335.
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2010 Hynes, K., Tarpey, P., Dibbens, L., Bayly, M., Berkovic, S., Smith, R., . . . Scheffer, I. (2010). Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. Journal of Medical Genetics, 47(3), 211-216.
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2010 Laumonnier, F., Shoubridge, C., Antar, C., Nguyen, L., Van Esch, H., Kleefstra, T., . . . Raynaud, M. (2010). Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism. Molecular Psychiatry, 15(7), 767-776.
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2009 Sharma, S., Koh, K., Collin, C., Dave, A., McMellon, A., Sugiyama, Y., . . . Craig, J. (2009). NHS-A isoform of the NHS gene is a novel interactor of ZO-1. Experimental Cell Research, 315(14), 2358-2372.
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2009 Demos, M., Fullston, T., Partington, M., Gecz, J., & Gibson, W. (2009). Clinical Study of Two Brothers With a Novel 33 bp Duplication in the ARX Gene. American Journal of Medical Genetics. Part A, 149A(7), 1482-1486.
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2009 Chan, W., Bhalla, A., Le Hir, H., Nguyen, L., Huang, L., Gecz, J., & Wilkinson, M. (2009). A UPF3-mediated regulatory switch that maintains RNA surveillance. Nature Structural and Molecular Biology, 16(7), 747-753.
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2009 Tarpey, P., Smith, R., Pleasance, E., Whibley, A., Edkins, S., Hardy, C., . . . Stratton, M. (2009). A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nature Genetics, 41(5), 535-543.
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2009 Burdon, K., Durkin, S., Burke, M., Edwards, M., Pater, J., Straga, T., . . . Craig, J. (2009). A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family. American Journal of Medical Genetics. Part A, 149A(4), 633-639.
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2009 Raymond, F., Whibley, A., Stratton, M., & Gecz, J. (2009). Lessons learnt from large-scale exon re-sequencing of the X chromosome. Human Molecular Genetics, 18(Sp Iss 1), R60-R64.
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2009 Bensaid, M., Melko, M., Bechara, E., Davidovic, L., Berretta, A., Catania, M., . . . Bardoni, B. (2009). FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure. Nucleic Acids Research, 37(4), 1269-1279.
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2009 Lugtenberg, D., Kleefstra, T., Oudakker, A., Nillesen, W., Yntema, H., Tzschach, A., . . . de Brouwer, A. (2009). Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy. European Journal of Human Genetics, 17(4), 444-453.
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2009 Reish, O., Fullston, T., Regev, M., Heyman, E., & Gecz, J. (2009). A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations. American Journal of Medical Genetics. Part A, 149A(8), 1655-1660.
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2009 Gecz, J., Shoubridge, C., & Corbett, M. (2009). The genetic landscape of intellectual disability arising from chromosome X. Trends in Genetics, 25(7), 308-316.
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2009 Lugtenberg, D., Kleefstra, T., Oudakker, A. R., Nillesen, W. M., Yntema, H. G., Tzschach, A., . . . de Brouwer, A. P. M. (2009). Erratum: Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy (European Journal of Human Genetics (2009) vol. 17 (444-453) 10.1038/ejhg.2008.208). European Journal of Human Genetics, 17(5), 697.
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2008 Sharma, S., Burdon, K., Dave, A., Jamieson, R., Yaron, Y., Billson, F., . . . Craig, J. (2008). Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform. Molecular Vision, 14(219-23), 1856-1864.
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2008 Peat, R., Gecz, J., Fallon, J., Tarpey, P., Smith, R., Futreal, P., . . . North, K. (2008). Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders. Neuromuscular Disorders, 18(8), 606-609.
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2008 Frints, S., Lenzer, S., Bauters, M., Jensen, L., Van Esch, H., des Portes, V., . . . Kuss, A. (2008). MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. European Journal of Human Genetics, 16(9), 1029-1037.
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2008 Craig, J., Friend, K., Gecz, J., Rattray, K., Trotski, M., Mackey, D., & Burdon, K. (2008). A novel locus for X-linked congenital cataract on Xq24. Molecular Vision, 14(85-86), 721-726.
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2008 Dibbens, L., Tarpey, P., Hynes, K., Bayly, M., Scheffer, I., Smith, R., . . . Gecz, J. (2008). X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nature Genetics, 40(6), 776-781.
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2008 Molinari, F., Foulquier, F., Tarpey, P., Morelle, W., Boissel, S., Teague, J., . . . Colleaux, L. (2008). Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation. American Journal of Human Genetics, 82(5), 1150-1157.
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2008 Gilfillan, G., Selmer, K., Roxrud, I., Smith, R., Kyllerman, M., Eiklid, K., . . . Stromme, P. (2008). SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. American Journal of Human Genetics, 82(4), 1003-1010.
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2008 Jaekle Santos, L., Xing, C., Barnes, R., Ades, L., Megarbane, A., Vidal, C., . . . Zinn, A. (2008). Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes. Human Genetics, 123(5), 469-476.
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2008 Scheffer, I., Turner, S., Dibbens, L., Bayly, M., Friend, K., Hodgson, B., . . . Berkovic, S. (2008). Epilepsy and mental retardation limited to females: an under-recognized disorder. Brain, 131(Part 4), 918-927.
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2008 Chiurazzi, P., Schwartz, C., Gecz, J., & Neri, G. (2008). XLMR genes: update 2007. European Journal of Human Genetics, 16(4), 422-434.
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2008 Froyen, G., Corbett, M., Vandewalle, J., Jarvela, I., Lawrence, O., Meldrum, C., . . . Gecz, J. (2008). Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. American Journal of Human Genetics, 82(2), 432-443.
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2008 Turner, G., Boyle, J., Partington, M., Kerr, B., Raymond, F., & Gecz, J. (2008). Restoring reproductive confidence in families with X-linked mental retardation by finding the causal mutation. Clinical Genetics, 73(2), 188-190.
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2008 Butcher, C., Hahn, U., To, L., Gecz, J., Wilkins, E., Scott, H., . . . D'Andrea, R. (2008). Two novel JAK2 exon 12 mutations in JAK2V617F-negative polycythaemia vera patients. Leukemia, 22(4), 870-873.
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2007 Schwartz, C., Tarpey, P., Lubs, H., Verloes, A., May, M., Risheg, H., . . . Stevenson, R. (2007). The original Lujan syndrome family has a novel missense mutation (p. N1007S) in the MED12 gene. Journal of Medical Genetics, 44(7), 472-477.
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2007 Field, M., Tarpey, P., Smith, R., Edkins, S., O'Meara, S., Stevens, C., . . . Raymond, F. (2007). Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly. American Journal of Human Genetics, 81(2), 367-374.
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2007 Shoubridge, C., Cloosterman, D., Parkinson-Lawrence, E., Brooks, D., & Gecz, J. (2007). Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene. Genomics, 90(1), 59-71.
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2007 Tarpey, P., Raymond, F., Nguyen, L., Rodriguez, J., Hackett, A., Vandeleur, L., . . . Gecz, J. (2007). Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. Nature Genetics, 39(9), 1127-1133.
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2007 McKenzie, O., Ponte, I., Mangelsdorf, M., Finnis, M., Colasante, G., Shoubridge, C., . . . Broccoli, V. (2007). Aristaless-related homeobox gene, the gene responsible for west syndrome and related disorders, is a groucho/transducin-like enhancer of split dependent transcriptional repressor. Neuroscience, 146(1), 236-247.
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2007 Raymond, F., Tarpey, P., Edkins, S., Tofts, C., O'Meara, S., Teague, J., . . . Futreal, P. (2007). Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a marfanoid habitus. American Journal of Human Genetics, 80(5), 982-987.
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2007 Chen, W., Jensen, L., Gecz, J., Fryns, J., Moraine, C., de Brouwer, A., . . . Kuss, A. (2007). Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation. European Journal of Human Genetics, 15(3), 375-378.
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2007 Ali, A., Christie, P., Grigorieva, I., Harding, B., Van Esch, H., Ahmed, S., . . . Thakker, R. (2007). Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor. Human Molecular Genetics, 16(3), 265-275.
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2007 Tarpey, P., Raymond, F., O'Meara, S., Edkins, S., Teague, J., Butler, A., . . . Partington, M. (2007). Mutations in CUL4B which encodes a ubiquitin E3 ligase subunit cause an X-linked mental retardation syndrome associated with aggressive outbursts seizures relative macrocephaly central obesity hypogonadism pes cavus and tremor. American Journal of Human Genetics, 80(2), 345-352.
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2007 Voss, A., Gamble, R., Collin, C., Shoubridge, C., Corbett, M., Gecz, J., & Thomas, T. (2007). Protein and gene expression analysis of Phf6, the gene mutated in the Borjeson-Forssman-Lehmann Syndrome of intellectual disability and obesity. Gene Expression Patterns, 7(8), 858-871.
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2007 Wu, Y., Arai, A., Rumbaugh, G., Srivastava, A., Turner, G., Hayashi, T., . . . Wang, T. (2007). Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans. Proceedings of the National Academy of Sciences of the United States of America, 104(46), 18163-18168.
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2006 Sharma, S., Ang, S., Shaw, M., Mackey, D., Gecz, J., McAvoy, J., & Craig, J. (2006). Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions. Human Molecular Genetics, 15(12), 1972-1983.
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2006 Gecz, J., Cloosterman, D., & Partington, M. (2006). ARX: a gene for all seasons. Current Opinion in Genetics & Development, 16(3), 308-316.
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2006 Lugtenberg, D., Yntema, H., Banning, M., Oudakker, A., Firth, H., Willatt, L., . . . van Bokhoven, H. (2006). ZNF674: A new Kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation. American Journal of Human Genetics, 78(2), 265-278.
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2006 Crawford, J., Lower, K., Hennekam, R., Van Esch, H., Megarbane, A., Lynch, S., . . . Gecz, J. (2006). Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient. Journal of Medical Genetics, 43(3), 238-243.
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2006 Santos-Reboucas, C., Abdalla, C., Fullston, T., Campos Jr, M., Pimentel, M., & Gecz, J. (2006). Lack of FMR3 expression in a male with non-syndromic mental retardation and a microdeletion immediately distal to FRAXE CCG repeat. Neuroscience Letters, 397(3), 245-248.
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2006 Hagens, O., Dubos, A., Abidi, F., Barbi, G., Van Zutven, L., Hoeltzenbein, M., . . . Hanauer, A. (2006). Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation. Human Genetics, 118(5), 578-590.
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2005 Jensen, L., Amende, M., Gurok, U., Moser, B., Gimmel, V., Tzschach, A., . . . Lenzer, S. (2005). Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. American Journal of Human Genetics, 76(2), 227-236.
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2005 Evans, J., Archer, H., Colley, J., Ravn, K., Nielsen, J., Kerr, A., . . . Clarke, A. (2005). Early onset seizures and Rett-like features associated with mutations in CDKL5. European Journal of Human Genetics, 13(10), 1113-1120.
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2005 Van Esch, H., Bauters, M., Ignatius, J., Jansen, M., Raynaud, M., Hollanders, K., . . . Froyen, G. (2005). Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. American Journal of Human Genetics, 77(3), 442-453.
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2005 Stepp, M., Cason, A., Finnis, M., Mangelsdorf, M., Holinski-Feder, E., Macgregor, D., . . . Schwartz, C. (2005). XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene. BMC Medical Genetics, 6(1), e16/WWW 1-WWW 4.
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2005 Weaving, L., Ellaway, C., Gecz, J., & Christodoulou, J. (2005). Rett syndrome: clinical review and genetic update. Journal of Medical Genetics, 42(1), 1-7.
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2005 GECZ JOZEF., & STROMME PETTER. (2005). Novel homeobox gene.
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2004 Lower, K., Solders, G., Bondeson, M., Nelson, J., Brun, A., Crawford, J., . . . Gecz, J. (2004). 1024C>T (R342X) is a recurrent RHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family. European Journal of Human Genetics, 12(10), 787-789.
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2004 Tarpey, P., Parnau, J., Blow, M., Woffendin, H., Bignell, G., Cox, C., . . . Raymond, F. (2004). Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. American Journal of Human Genetics, 75(2), 318-324.
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2004 Freude, K., Hoffmann, K., Jensen, L., Delatycki, M., des Portes, V., Moser, B., . . . Ropers, H. (2004). Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation. American Journal of Human Genetics, 75(2), 305-309.
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2004 Christophe-Hobertus, C., Kooy, F., Gecz, J., Abramowicz, M., Holinski-Feder, E., Schwartz, C., & Christophe, D. (2004). TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation. BMC Medical Genetics, 5(1), www 1-www 5.
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2004 Gecz, J. (2004). The molecular basis of intellectual disability: novel genes with naturally occurring mutations causing altered gene expression in the brain. Frontiers in Bioscience, 9(1-3), 1-7.
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2004 Colombo, E., Galli, R., Cossu, G., Gecz, J., & Broccoli, V. (2004). Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons. Developmental Dynamics, 231(3), 631-639.
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2004 Tao, J., Van Esch, H., Hagedorn-Greiwe, M., Hoffmann, K., Moser, B., Raynaud, M., . . . Kalscheuer, V. (2004). Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. American Journal of Human Genetics, 75(6), 1149-1154.
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2004 Weaving, L., Christodoulou, J., Williamson, S., Friend, K., McKenzie, O., Archer, H., . . . Gecz, J. (2004). Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. American Journal of Human Genetics, 75(6), 1079-1093.
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2004 Cantagrel, V., Lossi, A., Boulanger, S., Depetris, D., Mattei, M., Gecz, J., . . . Villard, L. (2004). Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males. Journal of Medical Genetics, 41(10), 736-742.
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2004 Lower, K., Kumar, R., Woollatt, E., Villard, L., Gecz, J., Sutherland, G., & Callen, D. (2004). Partial androgen insensitivity syndrome and t(X;5): Are there upstream regulatory elements of the androgen receptor gene?. Hormone Research, 62(4), 208-214.
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2004 Partington, M., Turner, G., Boyle, J., & Gecz, J. (2004). Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.. Clinical Genetics, 66(1), 39-45.
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2004 Sarafidou, T., Kahl, C., Martinez-Garay, I., Mangelsdorf, M., Gesk, S., Baker, E., . . . Gecz, J. (2004). Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein. Genomics, 84(1), 69-81.
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2004 Turner, G., Lower, K., White, S., Delatycki, M., Lampe, A., Wright, M., . . . Partington, M. (2004). The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations. Clinical Genetics, 65(3), 226-232.
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2004 Stromme, P., Gecz, J., & Dobyns, W. B. (2004). Mutations in the ARX gene cause a spectacular range of neurological phenotypes. EUROPEAN JOURNAL OF NEUROLOGY, 11, 295.
2003 Gécz, J., & Sutherland, G. R. (2003). Cytogenetic and Genome Research: Preface. Cytogenetic and Genome Research, 100(1-4), 5-6.
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2003 Birrell, G., Lampe, A., Richmond, S., Bruce, S., Gecz, J., Lower, K., & Wright, M. (2003). Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency. Journal of Pediatric Endocrinology & Metabolism, 16(9), 1295-1300.
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2003 Kalscheuer, V., Freude, K., Musante, L., Jensen, L., Yntema, H., Gecz, J., . . . Ropers, H. (2003). Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. Nature Genetics, 35(4), 313-315.
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2003 Gecz, J., Shaw, M., Bellon, J., & de Barros Lopes, M. (2003). Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not. Gene, 320(1-2), 137-144.
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2003 Burdon, K., McKay, J., Sale, M., Russell-Eggitt, I., Mackey, D., Wirth, G., . . . Craig, J. (2003). Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation. American Journal of Human Genetics, 73(5), 1120-1130.
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2003 Kalscheuer, V., Tao, J., Donnelly, A., Hollway, G., Schwinger, E., Kubart, S., . . . Gecz, J. (2003). Disruption of the Serine/Threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. American Journal of Human Genetics, 72(6), 1401-1411.
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2003 Stromme, P., Bakke, S., Dahl, A., & Gecz, J. (2003). Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX. Journal of Neurology Neurosurgery and Psychiatry, 74(4), 536-538.
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2003 Baumstark, A., Lower, K., Sinkus, A., Andriuskeveviciute, I., Jurkeniene, L., Gecz, J., & Just, W. (2003). Novel PHF6 mutation p.D333del causes Borjeson-Forssman-Lehmann syndrome. Journal of Medical Genetics, 40(4), 1-6.
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2003 Gedeon, A., Nelson, J., Gecz, J., & Mulley, J. (2003). X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3. American Journal of Medical Genetics. Part A, 120A(4), 509-517.
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2003 Shaw, M., Brunetti-Pierre, N., Kadasi, L., Kovacova, V., van Maldergem, L., De Brasi, D., . . . Gecz, J. (2003). Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4. Clinical Genetics, 64(3), 235-242.
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2003 Savarirayan, R., Thompson, E., & Gecz, J. (2003). Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400). European Journal of Human Genetics, 11(9), 639-642.
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2003 GECZ JOZEF., & STROMME PETTER. (2003). A NOVEL HOMEOBOX GENE.
2002 Lower, K., Turner, G., Kerr, B., Mathews, K., Shaw, M., Gedeon, A., . . . Gecz, J. (2002). Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome. Nature Genetics, 32(4), 661-665.
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2002 Shaw, M., Chiurazzi, P., Romain, D., Neri, G., & Gecz, J. (2002). A novel gene, FAM11A, associated with the FRAXF CpG island is transcriptionally silent in FRAXF full mutation. European Journal of Human Genetics, 10(11), 767-772.
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2002 Bienvenu, T., Poirier, K., Friocourt, G., Bahi, N., Beaumont, D., Fauchereau, F., . . . Chelly, J. (2002). ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Human Molecular Genetics, 11(8), 981-991.
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2002 Lossi, A., Laugier-Anfossi, F., Depetris, D., Gecz, J., Gedeon, A., Kooy, F., . . . Villard, L. (2002). Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation. Journal of Medical Genetics, 39(2), 113-117.
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2002 Scheffer, I., Wallace, R., Phillips, F., Hewson, P., Reardon, K., Parasivam, G., . . . Mulley, J. (2002). X-linked myoclonic epilepsy with spasticity and intellectual disability - Mutation in the homeobox gene ARX. Neurology, 59(3), 348-356.
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2002 Turner, G., Partington, M., Kerr, B., Mangelsdorf, M., & Gecz, J. (2002). Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation. American Journal of Medical Genetics. Part A, 112(4), 405-411.
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2002 Stromme, P., Mangelsdorf, M., Shaw, M., Lower, K., Lewis, S., Bruyere, H., . . . Gecz, J. (2002). Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nature Genetics, 30(4), 441-445.
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2002 Stromme, P., Mangelsdorf, M., Scheffer, I., & Gecz, J. (2002). Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX. Brain & Development, 24(5), 266-268.
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2002 Graves, J., Gecz, J., & Hameister, H. (2002). Evolution of the human X - a smart and sexy chromosome that controls speciation and development. Cytogenetic and Genome Research, 99(1-4), 141-145.
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2001 Hillman, M., & Gecz, J. (2001). Fragile XE-associated familial mental retardation protein 2 (FMR2) acts as a potent transcription activator. Journal of Human Genetics, 46(5), 251-259.
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2001 Lower, K., & Gecz, J. (2001). Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for x-linked mental retardation: Mutation screening in Borjeson-Forssman-Lehmann syndrome and MRX27. American Journal of Medical Genetics. Part A, 100(1), 43-48.
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2001 Gedeon, A., Tiller, G., Le Merrer, M., Heuertz, S., Tranebjaerg, L., Chitayat, D., . . . Mulley, J. (2001). The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. American Journal of Human Genetics, 68(6), 1386-1397.
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2001 Tiller, G., Hannig, V., Dozier, D., Carrel, L., Trevarthen, K., Wilcox, W., . . . Gecz, J. (2001). A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda. American Journal of Human Genetics, 68(6), 1398-1407.
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2001 Lower, K., Mangelsdorf, M., & Gecz, J. (2001). Molecular genetics of X-linked mental retardation: A complex picture emerging. Expert Review of Molecular Diagnostics, 1(2), 220-225.
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2000 Villard, L., Fontès, M., Adès, L. C., & Gecz, J. (2000). Identification of a mutation in the ZNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome. American Journal of Medical Genetics, 91(1), 83-85.
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2000 Villard, L., Fontes, M., Ades, L., & Gecz, J. (2000). Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome. American Journal of Medical Genetics. Part A, 91(1), 83-85.
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2000 Gecz, J., & Mulley, J. (2000). Genes for cognitive function: Developments on the X. Genome Research, 10(2), 157-163.
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2000 Gecz, J., Hillman, M., Gedeon, A., Cox, T., Baker, E., & Mulley, J. (2000). Gene structure and expression study of the SEDL gene for Spondyloepiphyseal Dysplasia Tarda. Genomics, 69(2), 242-251.
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2000 Gecz, J. (2000). The FMR2 gene, FRAXE and non-specific X-linked mental retardation: clinical and molecular aspects. Annals of Human Genetics, 64(2), 95-106.
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2000 Gecz, J. (2000). FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations. Journal of Medical Genetics, 37(10), 782-784.
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2000 Villard, L., Fontès, M., Adès, L. C., & Gecz, J. (2000). Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome. American Journal of Medical Genetics, 91(1), 83.
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1999 Gecz, J., Gedeon, A. K., Chiveralls, S., Cox, T., Heuertz, S., Le Merrer, M., . . . Mulley, J. C. (1999). Identification, characterisation and expression of the SEDL gene for X-linked spondyloepiphyseal dysplasia tarda (SEDL).. AMERICAN JOURNAL OF HUMAN GENETICS, 65(4), A20.
1999 Tiller, G. E., Gedeon, A. K., Hannig, V. L., Dozier, D., Kousseff, B. G., Cole, W. G., . . . Gecz, J. (1999). Truncating mutations in the SEDL gene at Xp22.2 cause spondyloepiphyseal dysplasia tarda (SEDL).. AMERICAN JOURNAL OF HUMAN GENETICS, 65(4), A20.
1999 Gecz, J., & Mulley, J. (1999). Characterisation and expression of a large, 13.7 kb FMR2 isoform. European Journal of Human Genetics, 7(2), 157-163.
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1999 Merienne, K., Jacquot, S., Pannetier, S., Zeniou, M., Bankier, A., Gecz, J., . . . Hanauer, A. (1999). A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation. Nature Genetics, 22(1), 13-14.
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1999 Villard, L., Briault, S., Lossi, A. M., Paringaux, C., Belougne, J., Colleaux, L., . . . Gecz, J. (1999). Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1. Journal of Medical Genetics, 36(10), 754-758.
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1999 Gedeon, A., Colley, A., Jamieson, R., Thompson, E., Rogers, J., Sillence, D., . . . Gecz, J. (1999). Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. Nature Genetics, 22(4), 400-404.
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1999 Gecz, J., Baker, E., Donnelly, A., Ming, J., McDonald-McGinn, D., Spinner, N., . . . Mulley, J. (1999). Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient. Human Genetics, 104(1), 56-63.
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1999 Gecz, J., Barnett, S., Liu, J., Hollway, G., Donnelly, A., Eyre, H., . . . Mulley, J. (1999). Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardation. Genomics, 62(3), 356-368.
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1999 Briault, S., Villard, L., Lossi, A. M., Paringaux, C., Belougne, J., Colleaux, L., . . . Gecz, J. (1999). Mapping and characterization of two unrelated X chromosome inversion breakpoints at Xq13.1 associated with non-specific X-linked mental retardation. CYTOGENETICS AND CELL GENETICS, 85(1-2), 110.
1999 Sutherland, G. R., Gecz, J., Gedeon, A. K., Mulley, J. C., Richards, R. I., & Yu, S. (1999). Fragile sites, DNA methylation and mental retardation.. MOLECULAR PSYCHIATRY, 4, S19.
1997 Gecz, J., Bielby, S., Sutherland, G., & Mulley, J. (1997). Gene structure and subcellular localisation of FMR2, a member of a new family of putative transcription activators. Genomics, 44(2), 201-213.
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1997 Gecz, J., Oostra, B., Hockey, A., Carbonell, P., Turner, G., Haan, E., . . . Mulley, J. (1997). FMR2 expression in families with FRAXE mental retardation. Human Molecular Genetics, 6(3), 435-441.
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1997 Hollway, G., Suthers, G., Haan, E., Thompson, E., David, D., Gecz, J., & Mulley, J. (1997). Mutation detection in FGFR2 craniosynostosis syndromes. Human Genetics, 99(2), 251-255.
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1997 MULLEY John Charles., & GECZ Jozef. (1997). DNA SEQUENCES ASSOCIATED WITH FRAXE MENTAL RETARDATION.
1996 Gecz, J., Gedeon, A., Sutherland, G., & Mulley, J. (1996). Identification of the gene FMR2, associated with FRAXE mental retardation. Nature Genetics, 13(1), 105-108.
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1996 Villard, L., Toutain, A., Lossi, A. M., Gecz, J., Houdayer, C., Moraine, C., & Fontès, M. (1996). Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without α-thalassemia. American Journal of Human Genetics, 58(3), 499-505.
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1996 Villard, L., Gecz, J., Mattéi, J. F., Fontés, M., Saugier-Veber, P., Munnich, A., & Lyonnet, S. (1996). XNP mutation in a large family with juberg-marsidi syndrome. Nature Genetics, 12(4), 359-360.
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1995 Gecz, J., Gaunt, S. J., Passage, E., Burton, R. D., Cudrey, C., Pearce, J. J. H., & Fontes, M. (1995). Assignment of a polycomb-like chromobox gene (CBX2) to human chromosome 17q25. Genomics, 26(1), 130-133.
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1995 Villard, L., Gecz, J., Colleaux, L., Lossi, A. M., Chelly, J., Ishikawa-Brush, Y., . . . Fontes, M. (1995). Construction of a YAC contig spanning the Xq13.3 subband. Genomics, 26(1), 115-122.
DOI Scopus12 WoS17 Europe PMC13
1995 Gedeon, A., Keinanen, M., Ades, L., Kaarianen, H., Gecz, J., Baker, E., . . . Mulley, J. (1995). Overlapping submicroscopic deletions in Xq28 causing developmental disorders in two unrelated boys. American Journal of Human Genetics, 56(4), 907-914.
1995 Gedeon, A. K., Keinänen, M., Adès, L. C., Kääriäinen, H., Gécz, J., Baker, E., . . . Mulley, J. C. (1995). Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders: Identification of a gene near FRAXE. American Journal of Human Genetics, 56(4), 907-914.
Scopus43 WoS49 Europe PMC35
1994 Kádasi, L., Gécz, J., Feráková, I., Lubyová, B., Bohusová, T., Feráková, E., & Poláková, H. (1994). Distribution of ApoBII, MCT118 (D1S80), YNZ22 (D17S30), and COL2A1 Amp-FLPs (amplified fragment length polymorphisms) in Caucasoid population of Slovakia.. Gene Geography A Computerized Bulletin on Human Gene Frequencies, 8(2), 121-127.
Scopus3 WoS4 Europe PMC1
1994 GECZ, J., VILLARD, L., LOSSI, A. M., & FONTES, M. (1994). HYBRID SELECTION USING HUMAN AND MOUSE CDNAS - APPLICATION TO DXS56-PGK1 REGION IN XQ13.3. CYTOGENETICS AND CELL GENETICS, 67(4), 338.
1994 Stayton, C. L., Dabovic, B., Gulisano, M., Gecz, J., Broccoll, V., Glovanazzl, S., . . . Consalez, G. G. (1994). Cloning and characterization of a new human Xq13 gene, encoding a putative helicase. Human Molecular Genetics, 3(11), 1957-1964.
DOI Scopus64 WoS57 Europe PMC39
1994 VILLARD, L., GECZ, J., COLLEAUX, L., LOSSI, A. M., & FONTES, M. (1994). PHYSICAL AND TRANSCRIPTIONAL MAPPING IN THE XQ12-]Q21 REGION. CYTOGENETICS AND CELL GENETICS, 67(4), 337.
1994 Gecz, J., Pollaord, H., Consalez, G., Villard, L., Stayton, C., Millasseau, P., . . . Fontes, M. (1994). Cloning and expression of the murine homologue of a putative human x-linked nuclear protein gene closely linked to PGK1 in Xq13.3. Human Molecular Genetics, 3(1), 39-44.
DOI Scopus46 WoS45 Europe PMC32
1993 Gécz, J. (1993). DNA diagnosis of hemophilia A in a family without an affected proband. Bratislavske Lekarske Listy, 94(6), 326-328.
1993 Kádasi, L., Gécz, J., Saksová, L., & Thurzová, M. (1993). Molecular genetic analysis of deletions in the Duchenne and Becker types of progressive muscular dystrophy. Bratislavske Lekarske Listy, 94(5), 249-253.
Scopus2
1993 Consalez, G. G., Gecz, J., Stayton, C. L., Dabovic, B., Pasini, B., Pezzolo, A., . . . Romeo, G. (1993). Erratum: Fine mapping and cloning of the breakpoint associated with Menkes syndrome in a female patient (Genomics (1992) 14 (557-561)). Genomics, 16(1), 304.
DOI
1993 GECZ, J., VILLARD, L., LOSSI, A. M., & FONTES, M. (1993). CONSTRUCTION OF A TRANSCRIPTIONAL MAP OF THE DXS56-PGK1 1-MB REGION VIA DIRECT CDNA SELECTION APPROACH. CYTOGENETICS AND CELL GENETICS, 64(3-4), 178.
1993 Gecz, J., Vlllard, L., Lossl, A. M., Mlllasseau, P., Djaball, M., & Fontes, M. (1993). Physical and transcriptional mapping of DXS56-PGK1 1 mb region: Identification of three new transcripts. Human Molecular Genetics, 2(9), 1389-1396.
DOI Scopus20 WoS21 Europe PMC11
1993 Saksova, L., Gecz, J., Kadasi, L., & Ferak, V. (1993). Tagi Digestion of PCR Product Increases the Informativity of St14 VNTR for the Diagnosis of Hemophilia A. Disease Markers, 11(2-3), 139-141.
DOI Scopus1 WoS1 Europe PMC1
1993 VILLARD, L., GECZ, J., LOSSI, A. M., & FONTES, M. (1993). PROGRESS TOWARD THE CONSTRUCTION OF A YAC CONTIG COVERING THE WHOLE XQ13.3 SUBBAND. CYTOGENETICS AND CELL GENETICS, 64(3-4), 177.
1993 Hamosh, A., Rosenstein, B. J., Nash, E., Curristin, S. M., Cutting, G. R., Macek, M., . . . Hardy, K. (1993). Correlation between Genotype and Phenotype in Patients with Cystic Fibrosis. New England Journal of Medicine, 329(18), 1308-1313.
DOI Scopus576 Europe PMC304
1993 CONSALEZ, G. G., GECZ, J., STAYTON, C. L., DABOVIC, B., PASINI, B., PEZZOLO, A., . . . ROMEO, G. (1993). FINE MAPPING AND CLONING OF THE BREAKPOINT ASSOCIATED WITH MENKES SYNDROME IN A FEMALE-PATIENT (VOL 14, PG 557, 1992). GENOMICS, 16(1), 304.
1992 Kádasi, L., Gécz, J., Krivusová, T., Matúsek, J., & Ferák, V. (1992). Haplotype analysis of the CFTR gene region and the proportion of delta F508 deletion in Slovak patients with cystic fibrosis.. Functional and Developmental Morphology, 2(2), 141-142.
1992 Kádasi, L., Gécz, J., Matúšek, J., Krivušová, T., Ferák, V., Devoto, M., . . . Romeo, G. (1992). Deletion ΔF508 and haplotype analysis of CFTR gene region in Slovak CF patients. Human Genetics, 89(3), 305-306.
DOI Scopus3 WoS4 Europe PMC2
1992 Consalez, G. G., Gecz, J., Stayton, C. L., Dabovic, B., Pasini, B., Pezzolo, A., . . . Romeo, G. (1992). Fine mapping and cloning of the breakpoint associated with menkes syndrome in a female patient. Genomics, 14(3), 557-561.
DOI Scopus9 WoS10 Europe PMC5
1992 Gécz, J., Saksová, L., Kádasi, L., & Véghová, E. (1992). Identification of a de novo mutation in a factor FVIII:C gene in a family requesting prenatal diagnosis of hemophilia A. Bratislavske Lekarske Listy, 93(9), 459-462.
1992 Kádasi, L., Gécz, J., Puliti, A., Devoto, M., Ferák, V., Romeo, G., . . . Hruskovic, I. (1992). The delta F508 mutation which causes cystic fibrosis and its association with closely linked DNA polymorphisms in the Slovak population. Bratislavske Lekarske Listy, 93(3), 141-145.
1992 Gécz, J., Magdolen, P., Tomová, V., Ondrejcák, M., Hruskovic, I., Hinst, J., & Ferák, V. (1992). Rapid prenatal diagnosis of cystic fibrosis using the polymerase chain reaction: results of the first 5 cases. Bratislavske Lekarske Listy, 93(2), 76-81.
1991 Puliti, A., Orriols, J. J. T., Ronchetto, P., Fenu, L., Devoto, M., Romeo, G., . . . Ferak, V. (1991). Frequency of cystic fibrosis mutations and associated haplotype distribution in Slovak CF patients. Advances in Experimental Medicine and Biology, 290, 383-386.
DOI
1991 Kádasi, L., Gécz, J., & Saksová, L. (1991). Frequency and distribution of deletions in dystrophin gene in Duchenne muscular dystrophy patients from an east-European Slavonic population.. Gene Geography A Computerized Bulletin on Human Gene Frequencies, 5(3), 137-140.
Scopus2 Europe PMC2
1991 Gécz, J. (1991). PCR amplification of large VNTR alleles of D17S5 (YNZ22) locus. Nucleic Acids Research, 19(20), 5806.
DOI Scopus8 WoS11 Europe PMC5
1990 Gécz, J., Kádasi, L., Poláková, H., & Ferák, V. (1990). Use of DNA analysis in the diagnosis and prevention of hemophilia A. Bratislavske Lekarske Listy, 91(3), 219-224.
1988 Kádasi, L., Hruskovic, I., Thurzová, M., Gecz, J., Kayserová, H., & Ferák, V. (1988). DNA analysis as a method for the prevention of cystic fibrosis. Cesko Slovenska Pediatrie, 43(11), 647-651.

Year Citation
2016 Pham, D., Tan, C., Homan, C., Jolly, L., & Gecz, J. (2016). Protocadherin Mutations in Neurodevelopmental Disorders. In C. Sala, & C. Verpelli (Eds.), Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability (1 ed., pp. 221-231). London: Elsevier.
DOI Scopus2
2014 Laumonnier, F., Nguyen, L., Jolly, L., Raynaud, M., & Gecz, J. (2014). UPF3B gene and nonsense-mediated mRNA decay in autism spectrum disorders. In V. Patel, P. Preedy, & C. Martin (Eds.), Comprehensive Guide to Autism (pp. 1663-1678). New York: Springer.
DOI
2013 Mattiske, T., Tan, M., Gecz, J., & Shoubridge, C. (2013). Challenges of 'sticky' co-immunoprecipitation: Polyalanine tract protein-protein interactions. In D. Hatters, & A. Hannan (Eds.), Tandem repeats in genes, proteins, and disease : methods and protocols (Vol. 1017, pp. 121-133). Springer.
DOI Scopus2 Europe PMC1
2013 Tan, M., Gecz, J., & Shoubridge, C. (2013). PCR amplification and sequence analysis of GC-rich sequences: Aristaless-related homeobox example. In D. Hatters, & A. Hannan (Eds.), Tandem repeats in genes, proteins, and disease : methods and protocols (Vol. 1017, pp. 105-120). United States: Springer.
DOI Scopus4 Europe PMC4
2013 Mattiske, T. R., Tan, M. H., Gécz, J., & Shoubridge, C. (2013). Challenges of “Sticky” Co-immunoprecipitation: Polyalanine Tract Protein–Protein Interactions. In Methods in Molecular Biology (pp. 121-133). Humana Press.
DOI
2013 Tan, M. H., Gécz, J., & Shoubridge, C. (2013). PCR Amplification and Sequence Analysis of GC-Rich Sequences: Aristaless-Related Homeobox Example. In Methods in Molecular Biology (pp. 105-120). Humana Press.
DOI
2012 Shoubridge, C., & Gecz, J. (2012). Polyalanine tract disorders and neurocognitive phenotypes. In A. Hannan (Ed.), Tandem Repeat Polymorphisms: Genetic Plasticity, Neural Diversity and Disease (Vol. 769, 1 ed., pp. 185-203). United States: Springer.
DOI Scopus3 WoS15 Europe PMC15
2009 Crawford, J., Partington, M., Corbett, M., Lower, K., & Gecz, J. (2009). Börjeson-Forssman-Lehmann Syndrome. In P. Beales, I. Farooqi, & S. O'Rahilly (Eds.), Genetics of Obesity Syndromes (pp. 187-200). New York: Oxford University Press.
DOI
2007 Sutherland, G., Gecz, J., & Mulley, J. (2007). Fragile X Syndrome and other causes of X-Linked mental handicap. In D. Rimoin, J. Connor, A. Emery, R. Pyeritz, & B. Korf (Eds.), Emory and Rimoin's principles and practice of medical genetics Volume 3 (5 ed., pp. 2523-2547). UK: Churchill Livingstone.

Year Citation
2025 Abstracts for the 47th Human Genetics Society of Australasia Annual Scientific Meeting, Gold Coast, Queensland, Australia, 10−13 August 2024 (2025). In Twin Research and Human Genetics Vol. 28 (pp. 62-110). Cambridge University Press (CUP).
DOI
2025 Ravenscroft, G., Scriba, C., Folland, C., Bryen, S., Weisburd, B., Monahan, G., . . . Laing, N. (2025). Structural variants (SVs) underlying neurogenetic and neuromuscular diseases. In NEUROMUSCULAR DISORDERS Vol. 53 (pp. 1 page). PERGAMON-ELSEVIER SCIENCE LTD.
DOI
2024 Lau, T., Steward, C., Gecz, J., Rowitch, D., Vandrovcova, J., Maroofian, R., & Houlden, H. (2024). Unlocking the genetic code of cerebral palsy: exploring clinical and genetic insights in modern era. In EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 32 (pp. 875-876). GERMANY, Berlin: SPRINGERNATURE.
2024 Wilson, Y., Smithers-Sheedy, H., Goldsmith, S., Karim, T., Henry, G., Badawi, N., . . . McIntyre, S. (2024). Evaluating clinically relevant genes associated with cerebral palsy. In EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 32 (pp. 495). SCOTLAND, Glasgow: SPRINGERNATURE.
2024 Oppermann, H., Herbst, C., Wegler, M., Bothe, V., Sticht, H., Gecz, J., . . . Abou Jamra, R. (2024). Rare loss-of-function variants in DOCK4 lead to neurodevelopmental delay. In Abstracts from the 56th European Society of Human Genetics (ESHG, 2023) Conference as published in the European Journal of Human Genetics Vol. 32 (pp. P09.016.D-459). Glasgow, Scotland, UK: Springer Nature.
2023 Leitao, E., Schroeder, C., Parenti, I., Dalle, C., Rastetter, A., Kuehnel, T., . . . Depienne, C. (2023). Systematic analysis and prediction of genes associated with disorders on chromosome X. In EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 31 (pp. 52-53). AUSTRIA, Vienna: SPRINGERNATURE.
2023 Levy, M., McConkey, H., Kerkhof, J., Foroutan, A., Haghshenas, S., Reilly, J., . . . Sadikovic, B. (2023). Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders. In EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 31 (pp. 654). AUSTRIA, Vienna: SPRINGERNATURE.
2023 Levy, M., Relator, R., McConkey, H., Pranckeviciene, E., Kerkhof, J., Foroutan, A., . . . Sadikovic, B. (2023). Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders. In EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 31 (pp. 657-658). AUSTRIA, Vienna: SPRINGERNATURE.
2022 van Eyk, C. L., Webber, D. L., Minoche, A., Perez-Jurado, L., Corbett, M., Gardner, A., . . . Gecz, J. (2022). Yield of clinically reportable genetic variants in cerebral palsy by whole genome sequencing. In EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 30 (pp. 59). SPRINGERNATURE.
2022 Robertson, E., Bennett, M. F., Grinton, B. E., Oliver, K. L., Kroes, T., Corbett, M. A., . . . Bahlo, M. (2022). A Hidden Markov Model to Identify Inherited Disease-Causing Variants Using Shared Genetic Markers. In HUMAN HEREDITY Vol. VOL. (pp. 17-18). Univ Cambridge, MRC Biostatist Unit, Cambridge, ENGLAND: KARGER.
2022 Sullivan, J., Gunning, B., Zafar, M., Guerrini, R., Zolnowska, M., Gecz, J., & Samanta, D. (2022). Phase 2, placebo-controlled clinical study of oral ganaxolone in PCDH19-clustering epilepsy. In EPILEPSIA Vol. 63 (pp. 239-240). WILEY.
2021 Dimitrova, D. G., Angelova, M. T., Da Silva, B., Brazane, M., Ye, T., Gecz, J., . . . Carre, C. (2021). tRNA 2′-O-methylation by TRM7/FTSJ1 proteins modulates small RNA silencing and tRNA fragmentation. In FEBS OPEN BIO Vol. 11 (pp. 76-77). WILEY.
2020 Palmer, E. E., Caroll, R., Shaw, M., Kumar, R., Nawaz, U., Minoche, A., . . . Gecz, J. (2020). <i>RLIM</i> is a candidate dosage sensitive gene for individuals with varying duplications of Xq13, intellectual disability and recognizable facial features.. In EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 28 (pp. 995-996). SPRINGERNATURE.
2019 Sa, M. J. N., Jansen, S., van Remortele, A., Ewals, J., Verbruggen, M., Koolen, D. A., . . . de Vries, B. B. A. (2019). Adopting a gene through Human Disease Genes website series facilitates a clinical diagnosis for rare genetic disorders. In EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 27 (pp. 667). Milan, ITALY: NATURE PUBLISHING GROUP.
2018 Kruer, M., Jin, S., Bakhtiari, S., Lewis, S., Zeng, X., Sierant, M., . . . MacLennan, A. (2018). Damaging Genomic Variants Constitute a Major Risk Factor for Cerebral Palsy. In ANNALS OF NEUROLOGY Vol. 84 (pp. S419). Chicago, IL: WILEY.
2017 Selvan, N., Vaidyanathan, K., George, S., Niranjan, T., Teo, C. F., May, M., . . . Wells, L. (2017). Identification and Characterization of Multiple Missense Mutations in the O-GlcNAc transferase gene that are causal for X-linked Intellectual Disability. In GLYCOBIOLOGY Vol. 27 (pp. 1187). Portland, OR: OXFORD UNIV PRESS INC.
2016 Trivisano, M., Lucchi, C., Terracciano, A., Rustichelli, C., Cusmai, R., Ubertini, G., . . . Specchio, N. (2016). ALLOPREGNANOLONE IS REDUCED IN PATIENTS WITH PCDH19-RELATED EPILEPSY. In EPILEPSIA Vol. 57 (pp. 56). WILEY.
2016 Pham, D., Kolc, K. L., Schulz, R., Corbett, M., Gardner, A., Pitson, S., . . . Gecz, J. (2016). In vitro and in silico assessment of PCDH19 variation. In Human Epilepsy - Understanding biology to improve outcomes. Vibe Hotel, Marysville VIC.
2013 McMichael, G. L., Gecz, J., & Haan, E. (2013). Genetic variants identified in cerebral palsy. In Conference proceedings-17th Annual Congress Perinatal Society of Australia and New Zealand. Adelaide, South Australia.
2011 Heron, S. E., Gardner, A., Corbett, M., Gecz, J., Grinton, B. E., Zuberi, S. M., . . . Mulley, J. C. (2011). IS BENIGN FAMILIAL INFANTILE EPILEPSY (BFIE) LINKED TO CHROMOSOME 16P11.2-Q12.1 THE RESULT OF AN UNUSUAL MUTATIONAL MECHANISM?. In EPILEPSIA Vol. 52 (pp. 98-99). Rome, ITALY: WILEY-BLACKWELL.
2011 Berkovic, S. F., Corbett, M. A., Schwake, M., Bahlo, M., Dibbens, L. M., Lin, M., . . . Gecz, J. (2011). A NEW FORM OF PROGRESSIVE MYOCLONUS EPILEPSY WITH EARLY ATAXIA AND SCOLIOSIS DUE TO MUTATION IN THE GOLGI PROTEIN GOSR2. In EPILEPSIA Vol. 52 (pp. 94-95). Rome, ITALY: WILEY-BLACKWELL.
2010 Raymond, L., Whibley, A. C., Plagnol, V., Tarpey, P. S., Abidi, F., Fullston, T., . . . Stratton, M. R. (2010). Fine-scale Survey of X Chromosome Copy Number Variants Underlying Intellectual Disability. In JOURNAL OF MEDICAL GENETICS Vol. 47 (pp. S36). Warwick, RI: B M J PUBLISHING GROUP.
2009 Shoubridge, C., Tan, M., Fullston, T., McGillivray, G., Mancini, G., & Gecz, J. (2009). Unravelling the pathogenesis of the ARX homeobox mutations; role of IPO13. In Proceedings of 59th Annual meeting of the American Society of Human Genetics (pp. 0 pages). USA: American Society of Human Genetics.
2007 Tarpey, P. S., Raymond, F. L., Smith, R., Tumer, G., Stevenson, R. E., Schwartz, C. E., . . . Gecz, J. (2007). Mutations in UPF313, a member of the nonsense-mediated mRNA decay surveillance complex, cause Lujan-Fryns and FG phenotypes and non-syndromic mental retardation. In JOURNAL OF MEDICAL GENETICS Vol. 44 (pp. S24). Univ York, York, ENGLAND: BMJ PUBLISHING GROUP.
2005 Tarpey, P., Fryer, A., Gecz, J., Goodship, J., Partington, M., Price, S., . . . Raymond, F. L. (2005). Prevalence of mutations in X-linked mental retardation genes in familial mental retardation. In JOURNAL OF MEDICAL GENETICS Vol. 42 (pp. S18). Univ York, York, ENGLAND: BMJ PUBLISHING GROUP.
2004 Craig, J. E., Burdon, K., McKay, J., Russell-Eggitt, I., Shaw, M., Sharma, S., . . . Mackey, D. (2004). Identification and analysis of a novel gene causing the pleiotropic features of Nance-Horan Syndrome.. In INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE Vol. 45 (pp. U511). Ft Lauderdale, FL: ASSOC RESEARCH VISION OPHTHALMOLOGY INC.
2004 Evans, J., Archer, H. L., Gecz, J., Christodoulou, J., Butler, R., Whatley, S., & Clarke, A. (2004). Novel STK9 mutation in a patient with Rett-like syndrome.. In JOURNAL OF MEDICAL GENETICS Vol. 41 (pp. S64). Univ York, York, ENGLAND: B M J PUBLISHING GROUP.
2004 Raymond, F. L., Tarpey, P., Parnau, J., Blow, M., Bignell, G., Cox, J., . . . Wooster, R. (2004). Mutations in the DLG3 gene cause non-syndromic X-linked mental retardation. In JOURNAL OF MEDICAL GENETICS Vol. 41 (pp. S18). Univ York, York, ENGLAND: B M J PUBLISHING GROUP.
2003 Craig, J. E., Rattray, K., Troski, M., Mackey, D. A., Gecz, J., & Friend, K. (2003). A locus for congenital cataract maps to chromosome Xq. In INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE Vol. 44 (pp. U302). FT LAUDERDALE, FLORIDA: ASSOC RESEARCH VISION OPHTHALMOLOGY INC.
2003 Butcher, C. M., Bardy, P. G., Gecz, J., Gonda, T., Cosgrove, L., & D'Andrea, R. J. (2003). The role of activating mutations in the common signalling subunit of the receptors for interieukin-3, interleukin-5 and granulocyte-macrophage colony stimulating factor in polycythemia vera.. In BLOOD Vol. 102 (pp. 341B). SAN DIEGO, CALIFORNIA: AMER SOC HEMATOLOGY.
2003 Kalscheuer, V. M., Freude, K., Jensen, L. J., Musante, L., Yntema, H. G., Gécz, J., . . . Ropers, H. H. (2003). Mutations in the polyglutamine-binding protein 1 gene cause X-linked mental retardation.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 73 (pp. 164). LOS ANGELES, CALIFORNIA: UNIV CHICAGO PRESS.
WoS1
2003 Burdon, K. P., McKay, J. D., Sale, M. M., Russell-Eggitt, I. M., Mackey, D. A., Wirth, M. G., . . . Craig, J. E. (2003). Identification of a novel gene causing the pleiotropic features of Nance-Horan Syndrome.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 73 (pp. 169). LOS ANGELES, CALIFORNIA: UNIV CHICAGO PRESS.
2002 Kalscheuer, V. M., Jiong, T., Hollway, G., Schwinger, E., Hoeltzenbein, M., Eyre, H., . . . Gecz, J. (2002). Disruption of the serine threonine kinase 9 gene (STK9) as the cause of X-linked infantile spasms. In EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 10 (pp. 273). STRASBOURG, FRANCE: NATURE PUBLISHING GROUP.
2002 Mangelsdorf, M. E., Finnis, M., Hobson, L., Hodgson, B., Turner, G., Partington, M., . . . Gécz, J. (2002). <i>AFX</i> mutations frequently cause X-linked mental retardation.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 71 (pp. 541). BALTIMORE, MARYLAND: UNIV CHICAGO PRESS.
2002 Stromme, P., Mangelsdorf, M. E., Shaw, M. A., Lower, K. M., Lewis, S. M. S., Bruyere, H., . . . Gecz, J. (2002). Mutations of the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.. In EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 10 (pp. 63). STRASBOURG, FRANCE: NATURE PUBLISHING GROUP.
2002 Lower, K. M., Turner, G., Kerr, B. J., Mathews, K. D., Shaw, M. A., Schelley, S., . . . Gécz, J. (2002). Mutations in a novel PHD finger gene, <i>PHF6</i>, cause Borjeson-Forssman-Lehmann Syndrome. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 71 (pp. 190). BALTIMORE, MARYLAND: UNIV CHICAGO PRESS.
2002 Bienvenu, T., Poirier, K., Ben Jeema, L., Desportes, V., Moraine, C., van Bokhoven, H., . . . Chelly, J. (2002). ARX, a novel prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental deficiency. In EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 10 (pp. 63-64). STRASBOURG, FRANCE: NATURE PUBLISHING GROUP.
2001 Sanoamuang, L. O., Segers, H., Shiel, R. J., & Gulati, R. D. (2001). Preface. In Hydrobiologia Vol. 446-447 (pp. 5-6). KARGER.
DOI WoS1
1994 GECZ, J., VILLARD, L., LOSSI, A. M., & FONTES, M. (1994). DIRECT CDNA SELECTION USING HUMAN AND MOUSE CDNAS - APPLICATION TO XQ13.3 CHROMOSOMAL REGION. In U. Hochgeschwender, & K. Gardiner (Eds.), IDENTIFICATION OF TRANSCRIBED SEQUENCES (pp. 81-86). NEW ORLEANS, LA: PLENUM PRESS DIV PLENUM PUBLISHING CORP.
- McMichael, G. L., Gecz, J., Haan, E., & et al. (2102). Cerebral Palsy: a new genetic era. In Symposium. Adelaide, South Australia: Heldref Publications.

Year Citation
2024 Gecz, J., Nicolas, E., Corbett, M., Ritchie, T., Scheffer, I., Berkovic, S., . . . Jolly, L. (2024). Novel high throughput functional genomics approaches. Poster session presented at the meeting of Abstracts of the 56th European Society of Human Genetics Conference (ESHG 2023), as published in European Journal of Human Genetics. Glasgow, Scotland, UK: Springer.
DOI
2024 van Eyk, C., Corbett, M., Fornarino, D., Gardner, A., Berry, J., MacLennan, A., & Gecz, J. (2024). Systematic reanalysis of genomic data from the Australian Cerebral Palsy Biobank cohort. Poster session presented at the meeting of Abstracts from the 56th European Society of Human Genetics Conference (ESHG, 2023) as published in the European Journal of Human Genetics. Glasgow, Scotland: Springer Nature.
2024 Gecz, J., Bhattacharjee, R., Palmer, E., Gardner, A., Carroll, R., Wee, I. C., . . . Kumar, R. (2024). Genetic, Molecular and Mouse Model Investigations of Neurodevelopmental Impact of Deleterious Variants of the TREX Transcription-mRNA Export Complex Subunits. Poster session presented at the meeting of Abstracts of the 57th European Society of Human Genetics Conference (ESHG 2024), as published in European Journal of Human Genetics. Berlin, Germany: Springer Nature.
DOI
2023 Kurolap, A., Kreuder, F., Gonzaga-Jauregui, C., Duvdevani, M. P., Harel, T., Tammer, L., . . . Feldman, H. B. (2023). Bi-allelic variants in the neuronal cell adhesion molecule NRCAM lead to a novel neurodevelopmental disorder characterized by developmental delay, hypotonia, peripheral neuropathy or spasticity. Poster session presented at the meeting of Abstracts of the 55th European Society of Human Genetics Conference (ESHG 2022), as published in European Journal of Human Genetics. Vienna, Austria & virtual online: Springer.
DOI
2023 de Nys, R., Ritchie, T., Bhattacharje, R., Kumar, R., & Gecz, J. (2023). PCDH19 is regulated by neurosteroids and their receptors. Poster session presented at the meeting of EUROPEAN JOURNAL OF HUMAN GENETICS. AUSTRIA, Vienna: SPRINGERNATURE.
2020 Bhattacharjee, R., White, M., Thomas, P., Gecz, J., & Sharma, R. (2020). Investigating the Role of THOC2/TREX Nuclear mRNA Export in Neurodevelopmental Disorders. Poster session presented at the meeting of 14th Florey Postgraduate Research Conference, 2020. Adelaide.
2020 Frints, S. G. M., Ozanturk, A., Rodriguez Criado, G., Grasshoff, U., Field, M., Manouvrier-Hanu, S., . . . Kalscheuer, V. (2020). Pathogenic variants in RLIM/RNF12 lead to syndromic X-linked intellectual disability and congenital, neurologic and behavior disorders. Poster session presented at the meeting of EUROPEAN JOURNAL OF HUMAN GENETICS. SPRINGERNATURE.
2020 Dingemans, A. J. M., Stremmelaar, D. E., Remortele, A., Ewals, J., Verbruggen, M., Koolen, D. A., . . . de Vries, B. B. A. (2020). Adopting a gene through Human Disease Genes website series facilitates a clinical diagnosis for rare genetic disorders. Poster session presented at the meeting of EUROPEAN JOURNAL OF HUMAN GENETICS. SPRINGERNATURE.
2020 Gecz, J., Kolc, K., Sadleir, L., Depienne, C., Marini, C., Scheffer, I. E., . . . Roberts, R. (2020). Clinical and molecular complexity of X-linked clustering epilepsy, a disorder of cellular mosaics. Poster session presented at the meeting of EUROPEAN JOURNAL OF HUMAN GENETICS. SPRINGERNATURE.
2020 Kvarnung, M., Wang, T., Hoekzema, K., Vecchio, D., Wu, H., Sulovari, A., . . . Nordenskjold, M. (2020). Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Poster session presented at the meeting of EUROPEAN JOURNAL OF HUMAN GENETICS. ELECTR NETWORK: SPRINGERNATURE.
2020 Aref-Eshghi, E., Kerkhof, J., Pedro, V., Barat-Houari, M., Ruiz-Pallares, N., Alders, M., . . . Sadikovic, B. (2020). Evaluation of DNA methylation episignatures for diagnosis and phenotype correlations in 42 Mendelian neurodevelopmental disorders. Poster session presented at the meeting of Abstracts of the 53rd European Society of Human Genetics (ESHG) Conference, as published in European Journal of Human Genetics. Virtual Online: Springer Nature.
DOI WoS1
2020 El Chehadeh, S., Bakhtiari, S., Wynn, J., Chung, W. K., Vitiello, G., Cutcutache, I., . . . Piton, A. (2020). Variants inSLITRK2in individuals with neurodevelopmental manifestations including intellectual disability, behavioral troubles and possible dystonia. Poster session presented at the meeting of EUROPEAN JOURNAL OF HUMAN GENETICS. SPRINGERNATURE.
2019 Bennett, M. F., Rafehi, H., Oliver, K. L., Schneider, A. L., Regan, B. M., Bellows, S. T., . . . Bahlo, M. (2019). Familial Adult Myoclonic Epilepsy, Caused By A Pentanucleotide Repeat TTTCA Insertion In <i>SAMD12</i>, In Indian And Sri Lankan Families Extends The Occurrence Of This Mutation To A Wide Region Of Southern Asia. Poster session presented at the meeting of EPILEPSIA. Bangkok, THAILAND: WILEY.
2019 Gecz, J., Afawi, Z., Bahlo, M., Bennett, M. F., Berkovic, S. F., Bisulli, F., . . . Zara, F. (2019). Intronic expansions of an ATTTC pentamer in the <i>STARD7</i> gene underlie Familial Adult Myoclonic Epilepsy linked to chromosome 2 (FAME2). Poster session presented at the meeting of EUROPEAN JOURNAL OF HUMAN GENETICS. Gothenburg, SWEDEN: NATURE PUBLISHING GROUP.
2019 Florian, R. T., Kraft, F., Klebe, S., Magnin, E., Van Rootselaar, A. F., Kaya, S., . . . Depienne, C. (2019). Familial Adult Myoclonic Epilepsy linked to chromosome 5p15 (FAME3) is caused by an intronic ATTTT/ATTTC expansion in <i>MARCH6</i>. Poster session presented at the meeting of EUROPEAN JOURNAL OF HUMAN GENETICS. Gothenburg, SWEDEN: NATURE PUBLISHING GROUP.
2018 Padula, A., Poeta, L., Shoubridge, C., Valentino, M., Attianese, B., vanBokhoven, H., . . . Miano, M. (2018). Neurodevelopmental disorders linked to Aristaless homeobox gene: A "fault disease model". Poster session presented at the meeting of EUROPEAN JOURNAL OF HUMAN GENETICS. Copenhagen, DENMARK: NATURE PUBLISHING GROUP.
2017 Lucchi, C., Trivisano, M., Rustichelli, C., Terracciano, A., Cusmai, R., Ubertini, G. M., . . . Specchio, N. (2017). REDUCED STEROIDOGENESIS IN PATIENTS WITH PCDH19-FEMALE LIMITED EPILEPSY. Poster session presented at the meeting of EPILEPSIA. Barcelona, SPAIN: WILEY.
2016 Gecz, J. (2016). Genetic architecture of neurodevelopmental disabilities. Poster session presented at the meeting of JOURNAL OF INTELLECTUAL DISABILITY RESEARCH. WILEY-BLACKWELL.
2014 Phillips-Krawczak, C. A., Singla, A., Starokadomskyy, P., Deng, Z., Osborne, D. G., Li, H., . . . Burstein, E. (2014). Identification of a Novel Complex Required for WASH-dependent Receptor Trafficking. Poster session presented at the meeting of MOLECULAR BIOLOGY OF THE CELL. Philadelphia, PA: AMER SOC CELL BIOLOGY.
2014 Dibbens, L. M., Scheffer, I. E., Regan, B. M., Mandelstam, S., Crompton, D. E., Hodgson, B. L., . . . Heron, S. E. (2014). MUTATIONS IN DEPDC5 ARE A MAJOR CAUSE OF LESIONAL AND NON-LESIONAL FOCAL EPILEPSY. Poster session presented at the meeting of EPILEPSIA. Stockholm, SWEDEN: WILEY-BLACKWELL.
2013 Quach, A., Lester, S., Smith, A., Hissaria, P., Al Kindi, M., Heddle, R., . . . Costabile, M. (2013). A HAPLOTYPE/DIPLOTYPE ASSOCIATED WITH DELAYED TACI UPREGULATION AND INCREASED RISK OF COMMON VARIABLE IMMUNODEFICIENCY. Poster session presented at the meeting of INTERNAL MEDICINE JOURNAL. WILEY-BLACKWELL.
2013 Tsai, L., Schwake, M., Corbett, M. A., Gecz, J., Berkovic, S., & Shieh, P. B. (2013). GOSR 2: a novel form of Congenital Muscular Dystrophy. Poster session presented at the meeting of Programme and abstracts of the 18th International Congress of the World Muscle Society, as published in Neuromuscular Disorders. Pacific Grove, California: Elsevier.
DOI WoS8
2013 Dibbens, L. M., de Vries, B., Donatello, S., Heron, S. E., Hodgson, B. L., Chintawar, S., . . . Scheffer, I. E. (2013). MUTATIONS IN DEPDC5: A MAJOR CAUSE OF FAMILIAL FOCAL EPILEPSY. Poster session presented at the meeting of EPILEPSIA. Montreal, CANADA: WILEY-BLACKWELL.
2013 Lomax, L. B., Bayly, M., Hjalgrim, H., Moller, R., Vlaar, A. M., Aaberg, K., . . . Berkovic, S. (2013). 'North Sea' Progressive Myoclonus Epilepsy: Phenotype of Subjects with <i>GOSR2</i> Mutation. Poster session presented at the meeting of NEUROLOGY. San Diego, CA: LIPPINCOTT WILLIAMS & WILKINS.
2013 Pandolfo, M., Dibbens, L., de Vries, B., Donatello, S., Heron, S., Hodgson, B., . . . Scheffer, I. (2013). Mutations in DEPDC5 cause Familial Focal Epilepsy with Variable Foci and are a common cause of familial non-lesional focal epilepsy. Poster session presented at the meeting of NEUROLOGY. San Diego, CA: LIPPINCOTT WILLIAMS & WILKINS.
2012 Huang, L., Shum, E. Y., Karam, R., Lam, S. N., Gecz, J., & Wilkinson, M. F. (2012). NMD-deficient Upf3b-null mice display behavioral and neuropathological defects. Poster session presented at the meeting of FASEB JOURNAL. San Diego, CA: FEDERATION AMER SOC EXP BIOL.
2008 Tarpey, P., Dibbens, L. M., Hynes, K., Smith, R., Edkins, S., Teague, J., . . . Gecz, J. (2008). X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Poster session presented at the meeting of JOURNAL OF MEDICAL GENETICS. Univ York, York, ENGLAND: BMJ PUBLISHING GROUP.

Year Citation
2009 DIBBENS LEANNE MICHELLE., SCHEFFER LNGRID EILEEN., BERKOVIC SAMUEL FRANK., MULLEY JOHN CHARLES., & GECZ JOZEF. (2009). DIAGNOSTIC AND THERAPEUTIC METHODS FOR EFMR (EPILEPSY AND MENTAL RETARDATION LIMITED TO FEMALES).

Year Citation
2025 Riley, S., Nguyen, V., Bhattacharjee, R., Ng, P. Q., Ritchie, T., Fisk, I., . . . Searle, I. (2025). TMT-based quantitative proteomic assessment of <i>Vicia sativa</i> induced neurotoxicity by β-cyano-L-alanine and γ-glutamyl-β-cyano-L-alanine in SH-SY5Y cells.
DOI
2023 Herbst, C., Bothe, V., Wegler, M., Axer-Schaefer, S., Audebert-Bellanger, S., Gecz, J., . . . Oppermann, H. (2023). Heterozygous loss-of function variants in DOCK4 cause neurodevelopmental delay and microcephaly.
DOI
2022 Leitão, E., Schröder, C., Parenti, I., Dalle, C., Rastetter, A., Kühnel, T., . . . Depienne, C. (2022). Systematic analysis and prediction of genes associated with disorders on chromosome X.
DOI
2020 Garg, P., Jadhav, B., Rodriguez, O., Patel, N., Martin-Trujillo, A., Jain, M., . . . Sharp, A. (2020). A survey of rare epigenetic variation in 23,116 human genomes identifies disease-relevant epivariations and novel CGG expansions.
DOI

Current Competitive Research Funding

Internationally Competitive Schemes

ID Start date End date Current? Investigators Funding scheme Title Total Awarded Amount amount (AUD)
417859 2/1/18 31/12/21 Yes MacLennan A, Gecz J, Corbett M, van Eyk C, Breen J, Barnett C, MacLennan S, Rice J, Russo R ORG3921: Cerebral Palsy Foundation Research Grant The genetic origins of cerebral palsy $900,000.00
469479 1/5/19 30/4/21 Yes van Eyk C, Gecz J, MacLennan A, Perez-Jurado L, Leventer R, Corbett M ORG121941: Research Foundation for Cerebral Palsy Alliance - Research Project Grant Uncovering the contribution of genetic mosaicism to cerebral palsy causation $140,000.00
417213 25/4/16 24/4/21 Yes Gecz J FND000039: Channel 7 CRF - Chair in Prevention of Childhood Disability Chair in the Prevention of Childhood Disability $1,625,000.00
476329 1/2/19 18/12/20 Yes Wilson Y, McIntyre S, Gecz J, Baynam G, Corbett M, Gunnewig B, Berry J, Harper K Cerebral Palsy Alliance (CPA) Research Foundation Using a sibling design approach to investigate genomics of CP and other neurodevelopmental disorders $75,610.00
434289 1/10/18 30/9/19 Yes Gecz J FND000473: CURE - Grant Exploring cell-free DNA (cfDNA) from post seizure liquid biopsies. $66,768.00

Nationally Competitive Schemes

ID Start date End date Current? Investigators Funding scheme Title Total Awarded Amount amount (AUD)
434045 1/1/19 31/12/23 Yes Gecz J 51301003: NHMRC - Research Fellowships Genetics and Biology of Neurodevelopmental Disability. $963,270.00
450500 1/1/19 31/12/22 Yes Gecz J, Sharma R, Thomas P, Baune B, Palmer E, Ule J, Jolly L, Corbett M, Field M 51301001: NHMRC - Project Grants TREX nuclear mRNA export and healthy development. $870,024.00
417425 1/11/16 31/10/21 Yes Roscioli T, Gecz J, Field M, Schofield D, Buckley M, North K, Dinger M, Christodoulou J, Amor D, , Boddy A, Colley A, Schenck A, Barnett C, Goodnow C, Dudding T, Groza T, Mowat D, McGaughran J, Caulfield M 51301007: NHMRC - Centres of Research Excellence 1117394 - Transforming the Diagnosis and Management of Severe Neurocognitive Disorders through Genomics $199,197.00
408482 1/1/16 31/12/20 Yes Gecz J, Berkovic S, Jackson G, Connelly A, Scheffer I, O'Brien T, Petrou S, Calamante F, Reid C 51301002: NHMRC - Program Grants 1091593 - Human epilepsy: Understanding biology to improve outcomes $1,784,872.00
417149 11/8/17 11/8/20 Yes Gecz J, Sharma R, Jolly L 51715001: ARC - Discovery Projects TREX-mediated nuclear mRNA export in neuronal differentiation and function $234,000.00
417107 1/1/17 31/12/19 Yes Thomas P, Heng J, Honig B, Gecz J, Petrou S 51301001: NHMRC - Project Grants 1129679 - Identifying the pathological mechanism of PDCH19-Girls Clustering Epilepsy $523,988.00
416785 1/1/16 31/12/19 Yes MacLennan A, van Eyk C, Corbett M, Newman M, Barnett C, Gecz J, Geschwind D, Kruer M, Lardelli M, Russo R, MacLennan S, Bent S, Smith N, Broadbent J 51301001: NHMRC - Project Grants 1099163 - Genetic pathways to cerebral palsy $1,314,158.00

 

Completed Funding Schemes

ID Start date End date Current? Investigators Funding scheme Title Total Awarded Amount amount (AUD)
417332 1/3/17 28/2/19 No Gecz J, Craig J, MacLennan A, van Eyk C, Corbett M ORG121941: Research Foundation for Cerebral Palsy Alliance - Research Project Grant Multi-omics investigations of cerebral palsy causation in discordant monozygotic twins and singletons $261,442.00
415706 1/3/13 28/2/19 No Gecz J 51301003: NHMRC - Research Fellowships 1041920 - Genetics and Biology of Neurological Disorders $883,375.00
416046 1/3/14 31/3/18 No MacLennan A, Gecz J, MacLennan S, Haan E, Adelson D, Russo R, Goldwater P, Priest K, O'Callaghan M, Khong T ORG3921: Cerebral Palsy Foundation Research Grant IRG 3313 Infrastructure grant for the Australian Collaborative Cerebral Palsy research group to facilitate research into the genomics of cerebral palsey $800,000.00
416527 1/1/16 31/12/17 No Pham D, Gecz J, Sharma R 1010G: WCH Foundation Research Grant Genotype phenotype investigations in PCDH19-Female Epilepsy (PCHDH19-FE) $74,920.00
416528 1/1/16 31/12/17 No Corbett M, Sharma R, Gecz J 1010G: WCH Foundation Research Grant Deciphering the non-coding code: Finding the genetic basis for neurological disorders in large, well-studied families $75,000.00
416214 1/1/14 31/3/17 No Gecz J, Jolly L, Wilkinson M, Bardoni B, Voineagu I, Verma P, Barry S 51301001: NHMRC - Project Grants 1063808 - The role of UPF3B and nonsense mediated mRNA decay surveillance in the pathology of intellectual disability $763,953.00
416197 1/1/14 31/3/17 No Shoubridge C, Friocourt G, Gecz J 51301001: NHMRC - Project Grants 1063025 - Investigating the role of mutations in the ARX homeobox transcription factor contributing to intellectual disability $576,174.00
414827 1/1/15 31/12/16 No Jolly L, Gecz J, Whitelaw M, Bersten D 900321: Channel 7 CRF - Research Grant Identifying pathological mechanisms underlying intellectual disability $75,000.00
417035 1/9/15 31/8/16 No Thomas P, Gecz J ORG120981: PCDH19 Alliance Research Grant In vivo investigation of the cellular interference model using unique Pcdh19 mouse models and brain tissue from a PCDH19-GCE affected female $52,134.00
415926 1/1/11 31/12/15 No Gecz J, Thomas P 51301002: NHMRC - Program Grants 628952 - Neurobiology of Human Epilepsy: Genes, cellular mechanisms, networks and whole brain $3,520,180.00
411761 1/1/11 28/2/14 No Gecz J, Ropers H, Becker T, Haan E 51301001: NHMRC - Project Grants Identification of genes for X-linked mental retardation $653,390.00
410043 1/1/13 31/12/13 No Jolly L, Gecz J, Barry S 1010G: WCH Foundation Research Grant Molecular pathology of HCFC1, a novel modifier of embryonic neural cell behaviour involved in intellectual disability $75,000.00
415941 1/1/13 31/12/13 No Shoubridge C, Gecz J 51301006: NHMRC - Equipment Grants Axio Vent Flourescent Phase Contrast Microscope STOPNE PLUS 96WELL RT PCR SYSTEM with laprop and other laboratory equipment $165,029.00
415406 1/1/12 31/12/12 No McMichael G, Gecz J, Haan E, MacLennan A ORG102991: WCH Foundation - Project Grant The genetic determinants of cerebral palsy.  Gene discovery in familial and isolated cases of cerebral palsy using massively parallel sequencing $49,913.00
413280 1/1/08 31/12/12 No Gecz J 51301003: NHMRC - Research Fellowships NHMRC Senior research Fellowship Level B - A/Prof J Gecz $651,250.00
413057 1/1/06 31/12/10 No Berkovic S, Jackson G, Mulley J, Reutens D, Petrou S, Scheffer I, Gecz J, Connelly A, Briellmann R 51301002: NHMRC - Program Grants Epilepsy: Molecular basis and mechanisms in the era of functional genomics (administered by the University of Melbourne) $11,361,890.00
413123 1/1/07 31/12/09 No Gecz J, Thomas P, Geschwind D, Schwartz C, Brooks D 51301001: NHMRC - Project Grants Investigating the role of the UPF3B gene and nonsense mediated RNA decay (NMD) process in mental retardation $551,500.00
413961 17/12/07 17/11/08 No Mulley J, Gecz J, Shoubridge C, Dibbens L, Friend K, Bain S 51301006: NHMRC - Equipment Grants Tomy seiko portable autoclave (part #SX-300E) and tomy stainless basket (part #ACA-315B) $11,571.00
413949 17/12/07 17/11/08 No Ferrante A, Hii J, Gecz J, Barry S 51301006: NHMRC - Equipment Grants Maxwell 16 integrated DNA processing platform, std elution volume hardware, low elution hardware and 2 extraction kits $19,094.00
410819 1/3/03 28/2/08 No Gecz J 51301003: NHMRC - Research Fellowships NHMRC Research Fellowship - Dr J Gecz $548,750.00
412606 1/1/04 31/12/06 No Gecz J 51301001: NHMRC - Project Grants Identification and characterisation of novel genes for congenital cataract $90,000.00
410277 1/1/02 31/12/06 No Sutherland G, Callen D, Mulley J, Gecz J, Wallace R, Kremmidiotis G 51301002: NHMRC - Program Grants Understanding the human genome: molecular mechanisms of genetic disease (WCH Portion) $6,067,760.00
412066 1/1/02 31/12/06 No Callen D, Sutherland G, Mulley J, Gecz J, Wallace R, Kremmidiotis G 51301002: NHMRC - Program Grants Understanding the human genome: molecular mechanisms of genetic disease (UofA Portion) $1,439,739.00
412493 13/6/05 30/6/06 No Gecz J 51301006: NHMRC - Equipment Grants Transgenomics 3500 Wave Dhpic System $55,251.00
412145 1/7/04 31/10/04 No Anson D, Byers S, Xian C, Gecz J 51301006: NHMRC - Equipment Grants Polymerase chain reaction thermal cycler for normal and quantitative PCR $67,000.00

Date Role Research Topic Program Degree Type Student Load Student Name
2025 Co-Supervisor Exploring the Molecular Mechanisms of PCDH19-Related Clustering Epilepsy to Inform Targeted Treatments. Doctor of Philosophy Doctorate Full Time Miss Kiara Marie Grasso
2025 Co-Supervisor Defining mechanisms driving pathology in the genetic cerebral palsies Doctor of Philosophy Doctorate Full Time Rachel Tyler Hamant
2025 Co-Supervisor Role of RNA processing in Human Development and Rare Genetic Diseases Doctor of Philosophy Doctorate Full Time Miss Emmylou Nicolas
2025 Co-Supervisor Role of RNA processing in Human Development and Rare Genetic Diseases Doctor of Philosophy Doctorate Full Time Miss Emmylou Cortez Nicolas-Martinez
2025 Co-Supervisor Defining mechanisms driving pathology in the genetic cerebral palsies Doctor of Philosophy Doctorate Full Time Rachel Tyler Hamant
2025 Co-Supervisor Exploring the Molecular Mechanisms of PCDH19-Related Clustering Epilepsy to Inform Targeted Treatments. Doctor of Philosophy Doctorate Full Time Miss Kiara Marie Grasso
2024 Principal Supervisor Modelling THOC2 neurodevelopmental syndrome using patient-derived 3D brain organoids Master of Philosophy (Medical Science) Master Full Time Ms Shreya Agarwala
2024 Co-Supervisor Assessing the inaccessible: Application of direct cellular reprogramming and genome editing techniques to address current diagnostic limitations in Neurodevelopmental Disorders. Doctor of Philosophy Doctorate Full Time Ms Olivia Robinson
2024 Co-Supervisor The Pathological Mechanisms Underpinning USP9X Syndrome Doctor of Philosophy Doctorate Full Time Miss Charlotte Yu
2024 Principal Supervisor Identification and Characterization of Genetic Determinants of Neurodevelopment Doctor of Philosophy Doctorate Full Time Miss Saadia Maryam Saadi
2024 Principal Supervisor Modelling THOC2 neurodevelopmental syndrome using patient-derived 3D brain organoids - Master Full Time Ms Shreya Agarwala
2024 Co-Supervisor Assessing the inaccessible: Application of direct cellular reprogramming and genome editing techniques to address current diagnostic limitations in Neurodevelopmental Disorders. Doctor of Philosophy Doctorate Full Time Ms Olivia Robinson
2024 Co-Supervisor The Pathological Mechanisms Underpinning USP9X Syndrome Doctor of Philosophy Doctorate Full Time Miss Charlotte Yu
2024 Principal Supervisor Identification and Characterization of Genetic Determinants of Neurodevelopment Doctor of Philosophy Doctorate Full Time Miss Saadia Maryam Saadi

Date Role Research Topic Program Degree Type Student Load Student Name
2020 - 2024 Co-Supervisor A Mouse Model of Transcription and mRNA Export (TREX) Complex Scaffold Protein THOC2- Related Neurodevelopmental Disorder Doctor of Philosophy Doctorate Full Time Mr Rudrarup Bhattacharjee
2020 - 2024 Principal Supervisor Assessment of Post-Zygotic Mosaic Mutations in Cohorts with Neurodevelopmental Disorders Doctor of Philosophy Doctorate Full Time Miss Nandini Govindasamy Sandran
2019 - 2023 Principal Supervisor Protocadherin 19 Clustering Epilepsy: Epigenomic, Transcriptomic and Proteomic Analyses Doctor of Philosophy Doctorate Full Time Miss Rebekah Taylor de Nys
2019 - 2025 Principal Supervisor Harnessing transcriptomic data to better understand gene regulatory mechanisms of neurodevelopmental disorders Doctor of Philosophy Doctorate Full Time Ms Urwah Nawaz
2017 - 2023 Co-Supervisor The role of CTNNB1 and WNT signaling in the Causation of Cerebral Palsy Doctor of Philosophy Doctorate Full Time Ms Sayaka Kayumi
2016 - 2020 Principal Supervisor Variable Clinical and Molecular Expressivity of PCDH19 Variants and Girls Clustering Epilepsy A Disorder of Cellular "Mosaics" Doctor of Philosophy Doctorate Full Time Miss Kristy Louise Kolc
2016 - 2020 Principal Supervisor A Study of Nonsense Mediated mRNA Decay using Naturally Occurring Genetic Variants and Through the Development of a Synthetic Transgene Doctor of Philosophy Doctorate Full Time Miss Dee Dianna Domingo
2014 - 2018 Co-Supervisor The Genetic Basis of Malformation of Cortical Development Syndromes: Primary Focus on Aicardi Syndrome Doctor of Philosophy Doctorate Full Time Miss Thuong Thi Ha
2014 - 2020 Principal Supervisor The Role of UPF3A and UPF3B in Early Development and Neural Differentiation Doctor of Philosophy Doctorate Full Time Ms Debrah Sadie Sebolai
2013 - 2017 Co-Supervisor Investigating the Pathogenic Mechanism of Expanded Polyalanine Tract Mutations in the ARX Homeobox Transcription Factor Causing Intellectual Disability Doctor of Philosophy Doctorate Full Time Tessa Renee Mattiske
2013 - 2017 Co-Supervisor Disruption of Cell-Cell Adhesion Codes Underlies The unique X-Linked Inheritance Pattern of Protocadherin 19 Girls Clustering Epilepsy Doctor of Philosophy Doctorate Full Time Daniel Tyler Pederick
2012 - 2017 Principal Supervisor Neurobiology of PCDHI9-Female Epilepsy Doctor of Philosophy Doctorate Full Time Dr Claire Homan
2012 - 2016 Principal Supervisor The Genetic Determinants of Cerebral Palsy Doctor of Philosophy Doctorate Full Time Dr Gai McMichael
2011 - 2013 Principal Supervisor The Role of UPF3B and the Nonsense-Mediated mRNA Decay Pathway in Pathology of Intellectual Disability Doctor of Philosophy Doctorate Full Time Mr Sonny Nguyen
2007 - 2010 Co-Supervisor Molecular Mechanisms in the Epilepsies of Infancy Doctor of Philosophy Doctorate Full Time Dr Sarah Heron
2006 - 2009 Co-Supervisor Ascertainment, Diagnostic Evaluation and Gene Mapping of South Australian Families with Possible X-Linked Mental Retardation Master of Clinical Science Master Full Time Dr Zahiya Abdulhameed Ahmed Al Raisi
2006 - 2010 Principal Supervisor Molecular Genetics of Epilepsy and Mental Retardation Limited to Females (EFMR) Doctor of Philosophy Doctorate Full Time Dr Kim Hynes
2005 - 2012 Principal Supervisor The Role of Aristaless Related Homeobox (ARX) Gene Mutations in Intellectual Disability Doctor of Philosophy Doctorate Full Time Dr Tod Fullston
2002 - 2006 Principal Supervisor Molecular Basis for Intellectual Disability and Epilepsy: Role of the Human Homeobox Gene ARX Doctor of Philosophy Doctorate Full Time Ms Desiree Cloosterman
2000 - 2003 Principal Supervisor Identification and Characterisation of the Gene for Borjeson-Forssman-Lehmann Syndrome Doctor of Philosophy Doctorate Full Time Ms Karen Lower
2000 - 2003 Principal Supervisor Identification of Novel Genes for X-linked Mental Retardation Doctor of Philosophy Doctorate Full Time Ms Marie Mangelsdorf

Date Role Research Topic Location Program Supervision Type Student Load Student Name
2021 - ongoing Principal Supervisor A project investigating the role of genetics in cerebral palsy patients with comparison to MRI scans The University of Adelaide Bachelor of Medicine, Bachelor of Surgery (MBBS) Honours in the School of Public Health Honours Full Time Huy-Dat Pham

Date Role Board name Institution name Country
2018 - 2023 Board Member Board of Representatives European Society of Human Genetics Austria
2018 - ongoing Advisory Board Member PCDH19 Alliance USA PCDH19 Alliance United States
2015 - ongoing Director Telethon Kids Board of Directors Telethon Kids Australia

Date Role Committee Institution Country
2024 - ongoing Member International Cerebral Palsy Genomics Consortium International Cerebral Palsy Genomics Consortium Australia
2021 - ongoing Board Member Telethon Kids Board of Directors Telethon Kids Medical Research Institute Australia
2021 - 2024 Chair International Cerebral Palsy Genomics Consortium International Cerebral Palsy Genomics Consortium Australia
2019 - ongoing Member Australian Academy of Science Ruth Gani Medal Award Committee Australian Academy of Science Australia
2019 - ongoing Member Australian Academy of Science Sectional Committee Australian Academy of Science Australia
2018 - 2020 Member Human Genome 2020 Meeting Human Genome Organisation Australia
2018 - 2018 Member MRFF - Genomics Health Futures Mission Scientific Strategic Committee Medical Research Future Fund Australia
2017 - 2019 Member World Congress of Psychiatric Genetics 2019 - -
2017 - ongoing Co-Founder International Cerebral Palsy Genomics Consortium International Cerebral Palsy Genomics Consortium Australia
2017 - ongoing Advisory Board Member Australian Functional Genomics National Steering Comittee Australian Functional Genomics Network Australia
2017 - 2019 Member Australian Academy of Health and Medical Sciences Sectional Committee Australian Academy of Health and Medical Sciences Australia
2016 - ongoing Member Australian Genomics National Steering Committee Australian Genomics Health Alliance Australia
2015 - ongoing Member Telethon Kids Scientific Advisory Council Telethon Kids Institute Australia
2014 - 2014 Co-Founder The Australian Cerebral Palsy Biobank The Australian Cerebral Palsy Biobank Australia
2010 - ongoing Member Lorne Genome ASN Australia

Date Role Membership Country
2017 - ongoing Member Australian Academy of Science Australia
2015 - ongoing Member Australian Academy of Health and Medical Sciences Australia
2010 - ongoing Member Royal College of Pathologists of Australasia (RCPA) Australia
2003 - ongoing Member National Association of Research Fellows Australia
2001 - ongoing Member Australian Society for Medical Research (ASMR) Australia
1995 - ongoing Member American Society of Human Genetics United States
1994 - ongoing Member Human Genetics Society of Australasia Australia
1994 - ongoing Member European Society of Human Genetics -
1992 - ongoing Member Human Genome Organisation -

Date Institution Department Organisation Type Country
2015 - ongoing Marinus Pharmacetuticals Inc - Business and professional United States

Date Role Editorial Board Name Institution Country
2017 - ongoing Associate Editor American Journal of Human Genetics - United States
2016 - ongoing Associate Editor Genomic Medicine - Canada
2015 - ongoing Board Member Twin Research and Human Genetics - Australia
2012 - ongoing Board Member Molecular Autism - Australia
2011 - ongoing Board Member Medical Genomics Faculty 1000 - Australia
2009 - ongoing Board Member Clinical Genetics: an international journal of genetics and molecular medicine - Australia
2006 - 2012 Board Member Annals of Human Genetics - Australia

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