Professor Jozef Gecz

Head Neurogenetics

Adelaide Medical School

Faculty of Health and Medical Sciences

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.

My Research
Career
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Grants and Funding
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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.

Appointments

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

Awards and Achievements

Date	Type	Title	Institution Name	Country	Amount
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 Competencies

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

Education

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
Postgraduate Training

Date Title Institution Country

1991 - 1993 PhD INSERM France
Research Interests

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

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

Journals

Year	Citation
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 Scopus1
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 Scopus2 Europe PMC3
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 Scopus2 Europe PMC2
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 Scopus1 Europe PMC2
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
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 Scopus2 Europe PMC1
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
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
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. Nature Medicine, 30(5), 1395-1405. DOI Scopus3
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
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, 10 pages. DOI
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
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. DOI
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 Scopus3 WoS1 Europe PMC3
2023	van Eyk, C., Berry, J., & Gecz, J. (2023). Genetic diagnosis enabling precision medicine for cerebral palsy. INSPIRE Magazine, (030), 30-31.
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 Scopus14 WoS1 Europe PMC4
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
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 Scopus1 Europe PMC1
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 Scopus19 WoS5 Europe PMC12
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 Scopus5 Europe PMC2
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 Scopus14 WoS4 Europe PMC11
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 Scopus9 WoS1 Europe PMC6
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 Scopus4 WoS1 Europe PMC5
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 Scopus7 WoS1 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.. Am Heart J, 244, 1-13. DOI Scopus14 WoS8 Europe PMC7
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), 12 pages. DOI Scopus10 WoS4 Europe PMC7
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 Scopus8 WoS4 Europe PMC7
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. DOI Scopus15 WoS10 Europe PMC9
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), 1-18. DOI Scopus81 WoS46 Europe PMC60
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.. Dev Med Child Neurol, 64(12), 1470-1476. DOI Scopus8 WoS2 Europe PMC4
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 Scopus14 WoS2 Europe PMC9
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 Scopus1 WoS2 Europe PMC2
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.. Nat Commun, 13(1), 19 pages. DOI Scopus6 WoS2 Europe PMC7
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 Scopus33 WoS13 Europe PMC24
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 Scopus18 WoS4 Europe PMC10
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 Scopus2 WoS1 Europe PMC2
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
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), 17 pages. DOI Scopus17 WoS3 Europe PMC18
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. DOI Scopus19 WoS9 Europe PMC14
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. DOI Scopus12 WoS5 Europe PMC11
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. DOI Scopus4 WoS2 Europe PMC3
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. DOI Scopus5 WoS3 Europe PMC4
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. DOI Scopus2
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. DOI Scopus18 WoS14 Europe PMC15
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, 185(4), 1039-1046. DOI Scopus15 WoS11 Europe PMC13
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. DOI
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. DOI Scopus5 WoS3 Europe PMC5
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. DOI Scopus14 WoS9 Europe PMC6
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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. DOI Scopus48 WoS31 Europe PMC35
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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. DOI Scopus1 Europe PMC1
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), 1-11. DOI Scopus3 WoS1 Europe PMC3
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. DOI Scopus10 WoS3 Europe PMC12
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 novel CGG expansions. biorxiv. DOI
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. DOI Scopus6 WoS3 Europe PMC4
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. DOI Scopus16 Europe PMC10
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. DOI Scopus109 WoS71 Europe PMC68
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. DOI Scopus116 WoS83 Europe PMC85
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. DOI Scopus37 WoS30 Europe PMC30
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. DOI Scopus6 WoS3 Europe PMC4
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. DOI Scopus3 WoS2 Europe PMC2
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. DOI Scopus19 WoS15 Europe PMC15
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. DOI Scopus43 WoS33 Europe PMC30
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. DOI Scopus28 WoS17 Europe PMC15
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. DOI Scopus60 WoS42 Europe PMC36
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. DOI Scopus3 Europe PMC1
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. DOI Scopus20 WoS14 Europe PMC12
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. DOI Scopus11 WoS8 Europe PMC9
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. DOI Scopus4 WoS3 Europe PMC2
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. DOI Scopus23 WoS16 Europe PMC11
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. DOI Scopus10 WoS10 Europe PMC7
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. DOI Scopus20 WoS13 Europe PMC9
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.. Eur J Hum Genet, 28(6), 706-714. DOI Scopus32 WoS21 Europe PMC28
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. DOI Scopus158 WoS117 Europe PMC112
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. DOI Scopus13 WoS6 Europe PMC8
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. DOI Scopus6 WoS6 Europe PMC4
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. DOI Scopus24 WoS17 Europe PMC14
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. DOI Scopus16 WoS15 Europe PMC10
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. DOI Scopus5 WoS2 Europe PMC3
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. DOI Scopus10 WoS9 Europe PMC8
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. DOI Scopus27 WoS22 Europe PMC20
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. DOI Scopus41 WoS26 Europe PMC33
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. DOI Scopus40 WoS30 Europe PMC24
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. DOI Scopus21 WoS19 Europe PMC17
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. DOI Scopus14 WoS9 Europe PMC8
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. DOI Scopus57 WoS40 Europe PMC26
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. DOI Scopus91 WoS53 Europe PMC65
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. DOI Scopus107 WoS83 Europe PMC68
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 Scopus21 WoS16 Europe PMC15
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 Scopus19 WoS18 Europe PMC13
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. DOI Scopus24 WoS19 Europe PMC14
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. DOI Scopus18 WoS12 Europe PMC11
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. DOI Scopus34 WoS29 Europe PMC23
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. DOI Scopus8 WoS5 Europe PMC4
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. DOI Scopus86 WoS51 Europe PMC39
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. DOI Scopus18 WoS10 Europe PMC14
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. DOI WoS2 Europe PMC1
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. DOI Scopus36 WoS28 Europe PMC26
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. DOI Scopus35 WoS27 Europe PMC21
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. DOI Scopus11 WoS10 Europe PMC6
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. DOI Scopus203 WoS182 Europe PMC157
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. DOI Scopus88 WoS61 Europe PMC56
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. DOI Scopus2 WoS1 Europe PMC2
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. DOI Scopus6 WoS5 Europe PMC1
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. DOI Scopus51 WoS38 Europe PMC40
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. DOI Scopus34 WoS26 Europe PMC21
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. DOI Scopus93 WoS71 Europe PMC71
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. DOI Scopus20 WoS17 Europe PMC13
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. DOI Scopus39 WoS26 Europe PMC22
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. DOI Scopus54 WoS42 Europe PMC39
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. DOI Scopus23 WoS20 Europe PMC18
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. DOI Scopus20 WoS16 Europe PMC17
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. DOI Scopus43 WoS28 Europe PMC27
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. DOI Scopus45 WoS37 Europe PMC36
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. DOI Scopus17 WoS13 Europe PMC12
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. DOI Scopus95 WoS68 Europe PMC56
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. DOI Scopus82 WoS62 Europe PMC41
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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. DOI Scopus51 WoS33 Europe PMC35
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. DOI Scopus139 WoS90 Europe PMC62
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. DOI Scopus391 WoS332 Europe PMC304
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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. DOI Scopus30 WoS24 Europe PMC19
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. DOI Scopus41 WoS34 Europe PMC25
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. DOI Scopus111 WoS88 Europe PMC75
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. DOI Scopus20 WoS17 Europe PMC12
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. DOI Scopus127 WoS107 Europe PMC110
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. DOI Scopus8 WoS7 Europe PMC5
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. DOI Scopus10 WoS8 Europe PMC5
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. DOI Scopus26 WoS21 Europe PMC18
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. DOI
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. DOI Scopus71 WoS58 Europe PMC52
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. DOI Europe PMC3
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. DOI Scopus20 WoS17 Europe PMC17
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. DOI
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. DOI Scopus25 WoS23 Europe PMC20
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. DOI Scopus11 WoS9 Europe PMC9
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. DOI Scopus9 WoS6 Europe PMC4
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. DOI Scopus245 WoS196 Europe PMC136
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. DOI Scopus100 WoS78 Europe PMC63
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. DOI Scopus97 WoS75 Europe PMC55
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. DOI Scopus79 WoS54 Europe PMC39
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. DOI Scopus217 WoS177 Europe PMC132
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. DOI Scopus16 WoS14 Europe PMC12
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. DOI Scopus22 WoS19 Europe PMC16
2016	Maclennan, A. H., Thompson, S. C., & Gecz, J. (2016). Reply. American Journal of Obstetrics and Gynecology, 214(5), 671. DOI
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. DOI Scopus83 WoS70 Europe PMC60
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. DOI Scopus115 WoS102 Europe PMC92
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. DOI Scopus39 WoS33 Europe PMC31
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. DOI Scopus28 WoS22 Europe PMC16
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. DOI Scopus7 WoS6 Europe PMC5
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(1), 26765-1-26765-10. DOI Scopus50 WoS38 Europe PMC36
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. DOI Scopus28 WoS20 Europe PMC18
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. DOI Scopus41 WoS37 Europe PMC33
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. DOI Scopus97 WoS83 Europe PMC64
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. DOI Scopus33 WoS19 Europe PMC17
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. DOI Scopus43 WoS34 Europe PMC28
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. DOI Scopus226 WoS193 Europe PMC172
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. DOI Scopus129 WoS103 Europe PMC103
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. DOI Scopus36 WoS28 Europe PMC37
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. DOI Scopus60 WoS55 Europe PMC50
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. DOI Scopus45 WoS34 Europe PMC26
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. DOI Scopus168 WoS123 Europe PMC104
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. DOI Scopus58 WoS48 Europe PMC47
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. DOI Scopus144 WoS130 Europe PMC104
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. DOI Scopus67 WoS54 Europe PMC40
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. DOI Scopus50 WoS42 Europe PMC36
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. DOI Scopus11 WoS9 Europe PMC8
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. DOI Scopus301 WoS183 Europe PMC128
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. DOI Scopus194 WoS160 Europe PMC143
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. DOI Scopus2 WoS2
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. DOI Scopus114 WoS94 Europe PMC87
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. DOI Scopus146 WoS131 Europe PMC107
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. DOI Scopus15 WoS12 Europe PMC11
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. DOI Scopus31 WoS28 Europe PMC23
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. DOI Scopus43 WoS35 Europe PMC25
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. DOI Scopus31 WoS25 Europe PMC16
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. DOI Scopus165 WoS146 Europe PMC133
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. DOI Scopus20 WoS14 Europe PMC12
2015	Gecz, J., & Corbett, M. (2015). Developmental disorders: deciphering exomes on a grand scale. The Lancet, 385(9975), 1266-1267. DOI Scopus2 WoS2 Europe PMC2
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. DOI Scopus472 WoS410 Europe PMC364
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. DOI Scopus35 WoS33 Europe PMC31
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. DOI Scopus111 WoS92 Europe PMC85
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. DOI Scopus199 WoS166 Europe PMC117
2014	Berkovic, S., & Gecz, J. (2014). Phenotype-genotype complexities: opening DOORS. The Lancet Neurology, 13(1), 24-25. DOI
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. DOI Scopus95 WoS88 Europe PMC80
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. DOI Scopus18 WoS16 Europe PMC15
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. DOI Scopus98 WoS78 Europe PMC79
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. DOI Scopus16 WoS8 Europe PMC9
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. DOI Scopus65 WoS48 Europe PMC41
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. DOI Scopus11 WoS10 Europe PMC9
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. DOI Scopus64 WoS62 Europe PMC51
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. DOI Scopus26 WoS25 Europe PMC18
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. DOI Scopus63 WoS57 Europe PMC43
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. DOI Scopus81 WoS71 Europe PMC56
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. DOI Scopus62 WoS44 Europe PMC30
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. DOI Scopus301 WoS249 Europe PMC191
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. DOI Scopus107 WoS90 Europe PMC90
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 Scopus40 WoS34 Europe PMC28
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. DOI Scopus72 WoS72 Europe PMC60
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. DOI Europe PMC1
2012	Shoubridge, C., & Gecz, J. (2012). Polyalanine tract disorders and neurocognitive phenotypes. Advances in Experimental Medicine and Biology, 769, 185-203. DOI Scopus14
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. DOI Scopus28 WoS25 Europe PMC14
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 Scopus79 WoS68 Europe PMC69
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. DOI Scopus21 WoS17 Europe PMC14
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 Scopus16 WoS15 Europe PMC15
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 Scopus29 WoS24 Europe PMC24
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. DOI Scopus45 WoS42 Europe PMC38
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 WoS15 Europe PMC16
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. DOI Scopus89 WoS72 Europe PMC69
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. DOI Scopus231 WoS195 Europe PMC147
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. DOI Scopus46 WoS39 Europe PMC39
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. DOI Scopus15 WoS13 Europe PMC11
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. DOI Scopus19 WoS17 Europe PMC14
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. DOI Scopus98 WoS84 Europe PMC67
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. DOI Scopus22 WoS21 Europe PMC16
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. DOI Scopus240 WoS222 Europe PMC201
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. DOI Scopus67 WoS53 Europe PMC47
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. DOI Scopus2 WoS1
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. DOI WoS21 Europe PMC15
2010	Gécz, J. (2010). Glutamate receptors and learning and memory. Nature Genetics, 42(11), 925-926. DOI Scopus27 WoS22 Europe PMC18
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. DOI
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. DOI Scopus30 Europe PMC21
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. DOI Scopus165 WoS150 Europe PMC123
2010	Gecz, J. (2010). Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. American Journal of Human Genetics, 87(6), 905-914. DOI Scopus50 WoS38 Europe PMC32
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. DOI Scopus3
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. DOI Scopus4 WoS4 Europe PMC3
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. DOI Scopus106 WoS100 Europe PMC81
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. DOI Scopus100 WoS93 Europe PMC85
2010	Shoubridge, C., Fullston, T., & Gecz, J. (2010). ARX spectrum disorders: Making inroads into the molecular pathology. Human Mutation, 31(8), 889-900. DOI Scopus152 WoS125 Europe PMC96
2010	Scheffer, I., Zhang, Y., Gecz, J., & Dibbens, L. (2010). Genetics of the epilepsies: Genetic twists in the channels and other tales. Epilepsia, 51(SUPPL. 1), 33-36. DOI Scopus8 WoS5 Europe PMC5
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. DOI Scopus34 WoS28 Europe PMC21
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. DOI Scopus33 Europe PMC20
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. DOI Scopus35 Europe PMC30
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. DOI Scopus131 WoS113 Europe PMC91
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. DOI Scopus98 WoS84 Europe PMC67
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. DOI Scopus254 WoS224 Europe PMC190
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. DOI Scopus5 WoS5 Europe PMC4
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. DOI Scopus203 WoS181 Europe PMC156
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. DOI Scopus491 WoS453 Europe PMC405
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. DOI Scopus30 WoS25 Europe PMC17
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. DOI Scopus62 WoS51 Europe PMC43
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. DOI Scopus68 WoS59 Europe PMC41
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. DOI Scopus101 WoS81 Europe PMC74
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. DOI Scopus21 WoS19 Europe PMC18
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. DOI Scopus16 WoS14 Europe PMC9
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. DOI Scopus94 WoS88 Europe PMC80
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. DOI Scopus497 WoS449 Europe PMC394
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. DOI Scopus2 WoS2 Europe PMC2
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. DOI Scopus21 WoS14 Europe PMC15
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. DOI Scopus67 WoS55 Europe PMC48
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. DOI Scopus119 WoS106 Europe PMC93
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. DOI Scopus16 WoS15 Europe PMC10
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. DOI Scopus168 WoS149 Europe PMC130
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. DOI Scopus1 WoS2
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. Scopus28 WoS28 Europe PMC25
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. DOI Scopus3 WoS3 Europe PMC2
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. DOI Scopus62 WoS47 Europe PMC27
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. Scopus12 WoS12 Europe PMC9
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. DOI Scopus373 WoS311 Europe PMC249
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. DOI Scopus126 WoS116 Europe PMC94
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. DOI Scopus184 WoS157 Europe PMC138
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. DOI Scopus16 WoS10 Europe PMC8
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. DOI Scopus150 WoS128 Europe PMC77
2008	Chiurazzi, P., Schwartz, C., Gecz, J., & Neri, G. (2008). XLMR genes: update 2007. European Journal of Human Genetics, 16(4), 422-434. DOI Scopus148 WoS126 Europe PMC101
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. DOI Scopus174 WoS165 Europe PMC144
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. DOI Scopus15 WoS12 Europe PMC8
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. DOI Scopus61 WoS58 Europe PMC45
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. DOI Scopus150 WoS134 Europe PMC105
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. DOI Scopus74 WoS63 Europe PMC49
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. DOI Scopus39 WoS33 Europe PMC31
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. DOI Scopus213 WoS190 Europe PMC173
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. DOI Scopus64 WoS59 Europe PMC49
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. DOI Scopus137 WoS125 Europe PMC111
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. DOI Scopus21 WoS21 Europe PMC17
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. DOI Scopus129 WoS93 Europe PMC75
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. DOI Scopus190 WoS174 Europe PMC152
2007	Kousoulidou, L., Parkel, S., Zilina, O., Palta, P., Puusepp, H., Remm, M., . . . Patsalis, P. (2007). Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH. European Journal of Medical Genetics, 50(6), 399-410. DOI Scopus6 WoS7 Europe PMC5
2007	Froyen, G., Bauters, M., Boyle, J., Van Esch, H., van Bokhoven, H., Ropers, H., . . . Turner, G. (2007). Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region. Human Genetics, 121(5), 539-547. DOI Scopus47 WoS44 Europe PMC29
2007	de Brouwer, A., Yntema, H., Kleefstra, T., Lugtenberg, D., Oudakker, A., de Vries, B., . . . Hamel, B. (2007). Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX Consortium. Human Mutation, 28(2), 1-19. DOI WoS79 Europe PMC65
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. DOI Scopus44 WoS38 Europe PMC37
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. DOI Scopus93 WoS77 Europe PMC67
2007	de Brouwer, A. P. M., Yntema, H. G., Kleefstra, T., Lugtenberg, D., Oudakker, A. R., de Vries, B. B. A., . . . Hamel, B. C. J. (2007). Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.. Human mutation, 28(2), 207-208. DOI Scopus90
2006	Gecz, J., Turner, G., Nelson, J., & Partington, M. (2006). The Borjeson-Forssman-Lehman syndrome (BFLS, MIM #301900). European Journal of Human Genetics, 14(12), 1233-1237. DOI Scopus45 WoS40 Europe PMC34
2006	Tarpey, P., Stevens, C., Teague, J., Edkins, S., O'Meara, S., Avis, T., . . . Raymond, F. (2006). Mutations in the gene encoding the sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation. American Journal of Human Genetics, 79(6), 1119-1124. DOI Scopus98 WoS84 Europe PMC73
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. DOI Scopus40 WoS37 Europe PMC31
2006	Gecz, J., Cloosterman, D., & Partington, M. (2006). ARX: a gene for all seasons. Current Opinion in Genetics & Development, 16(3), 308-316. DOI Scopus116 WoS102 Europe PMC86
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. DOI Scopus70 WoS68 Europe PMC51
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. DOI Scopus43 WoS38 Europe PMC33
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. DOI Scopus6 WoS6 Europe PMC5
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. DOI Scopus54 WoS49 Europe PMC40
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. DOI Scopus331 WoS288 Europe PMC248
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. DOI Scopus165 WoS140 Europe PMC109
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. DOI Scopus533 WoS472 Europe PMC405
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. DOI Scopus22 WoS19 Europe PMC17
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. DOI Scopus158 WoS128 Europe PMC101
2005	GECZ JOZEF., & STROMME PETTER. (2005). Novel homeobox gene.
2004	Shaw, M., Gecz, J., McDonough, B., Hodess, A., & Harter, D. (2004). Identification of a SEDL gene mutation in an individual with Leber hereditary optic neuropathy and spondyloepiphyseal dysplasia. American Journal of Medical Genetics. Part A, 129(2), 206-207. DOI Scopus3 WoS2 Europe PMC2
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. DOI Scopus26 WoS22 Europe PMC23
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. DOI Scopus145 WoS131 Europe PMC114
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. DOI Scopus111 WoS101 Europe PMC89
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. DOI Scopus4 Europe PMC4
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. DOI Scopus16 WoS17 Europe PMC15
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. DOI Scopus76 WoS66 Europe PMC57
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. DOI Scopus273 WoS235 Europe PMC182
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. DOI Scopus418 WoS365 Europe PMC285
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. DOI Scopus65 WoS56 Europe PMC50
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. DOI Scopus5 WoS4 Europe PMC2
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. DOI Scopus57 WoS50 Europe PMC40
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. DOI Scopus50 WoS46 Europe PMC43
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. DOI Scopus63 WoS56 Europe PMC46
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. DOI
2003	Ropers, H., Hoeltzenbein, M., Kalscheuer, V., Yntema, H., Hamel, B., Fryns, J., . . . Moraine, C. (2003). Nonsyndromic x-linked mental retardation: where are the missing mutations?. Trends in Genetics, 19(6), 316-320. DOI Scopus60 WoS57 Europe PMC44
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. DOI Scopus19 WoS14 Europe PMC10
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. DOI Scopus138 WoS123 Europe PMC101
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. DOI Scopus30 WoS28 Europe PMC23
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. DOI Scopus105 WoS96 Europe PMC81
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. DOI Scopus268 WoS233 Europe PMC185
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. DOI Scopus18 WoS15 Europe PMC11
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. DOI Scopus28 WoS25 Europe PMC21
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. DOI Scopus60 WoS57 Europe PMC40
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. DOI Scopus40 WoS37 Europe PMC31
2003	Savarirayan, R., Thompson, E., & Gecz, J. (2003). Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400). European Journal of Human Genetics, 11(9), 639-642. DOI Scopus19 WoS14 Europe PMC16
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. DOI Scopus184 WoS161 Europe PMC132
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. DOI Scopus19 WoS18 Europe PMC11
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. DOI Scopus253 WoS233 Europe PMC189
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. DOI Scopus25 WoS24 Europe PMC17
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. DOI Scopus83 WoS74 Europe PMC53
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. DOI Scopus102 WoS92 Europe PMC67
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. DOI Scopus388 WoS356 Europe PMC276
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. DOI Scopus162 WoS146 Europe PMC115
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. DOI Scopus68 WoS57 Europe PMC48
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. DOI Scopus50 WoS39 Europe PMC33
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. DOI Scopus7 WoS6 Europe PMC4
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. DOI Scopus81 WoS64 Europe PMC55
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. DOI Scopus42 WoS37 Europe PMC33
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. DOI Scopus4 Europe PMC1
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. DOI Scopus41
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. DOI WoS37 Europe PMC27
2000	Gecz, J., & Mulley, J. (2000). Genes for cognitive function: Developments on the X. Genome Research, 10(2), 157-163. DOI Scopus62 WoS57 Europe PMC37
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. DOI Scopus49 WoS38 Europe PMC32
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. DOI Scopus49 WoS38 Europe PMC26
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. DOI Scopus16 WoS16 Europe PMC10
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. DOI
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. DOI Scopus13 WoS13 Europe PMC8
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. DOI Scopus132 WoS121 Europe PMC91
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. DOI Scopus6 WoS6 Europe PMC9
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. DOI Scopus171 WoS147 Europe PMC113
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. DOI Scopus74 WoS71 Europe PMC58
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. DOI Scopus80 WoS68 Europe PMC57
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. DOI Scopus60 WoS56 Europe PMC35
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. DOI Scopus50 WoS46 Europe PMC23
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. DOI Scopus49 WoS45 Europe PMC32
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. DOI Scopus265 WoS251 Europe PMC182
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. Scopus60 WoS61 Europe PMC46
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. DOI Scopus76 WoS75 Europe PMC57
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. DOI Scopus23 WoS18 Europe PMC14
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. Scopus42 WoS48 Europe PMC29
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 Scopus61 WoS53 Europe PMC37
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. Bratislavské lekárske 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. Bratislavské lekárske 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 Scopus571 Europe PMC249
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. Bratislavské lekárske 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. Bratislavské lekárske 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. Bratislavské lekárske 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.

Book Chapters

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 PMC3
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 WoS12 Europe PMC12
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.

Conference Papers

Year	Citation
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.
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.
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.

Conference Items

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.
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	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.
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
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.
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. WoS1
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 WoS4
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.

Patents

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).

Preprint

Year	Citation
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

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

Current Higher Degree by Research Supervision (University of Adelaide)

Date	Role	Research Topic	Program	Degree Type	Student Load	Student Name
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
2019	Principal Supervisor	Investigating gene regulatory networks in neurodevelopmental disorders during embryonic development and adulthood.	Doctor of Philosophy	Doctorate	Full Time	Ms Urwah Nawaz

Past Higher Degree by Research Supervision (University of Adelaide)

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
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 Deepti 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

Other Supervision Activities

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

Board Memberships

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

Committee Memberships

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

Memberships

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	-

Consulting/Advisories

Date Institution Department Organisation Type Country

2015 - ongoing Marinus Pharmacetuticals Inc - Business and professional United States

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

Editorial Boards

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

Position: Head Neurogenetics
Phone: 83132453
Email: jozef.gecz@adelaide.edu.au
Campus: North Terrace
Building: Adelaide Health and Medical Sciences, floor 8
Org Unit: Women's and Children's Health