Skip to main content

Professor Jozef Gecz

Jozef Gecz
Head Neurogenetics
Adelaide Medical School
Faculty of Health and Medical Sciences

Professor Jozef Gecz is Channel 7 Children’s Research Foundation Chair for the Prevention of Childhood Disability and Australian NH&MRC Senior Principal Research Fellow at the University of Adelaide.

He is the founding head of the Neurogenetics Research Program located at the Medical School, 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 200 different disease genes (e.g. AFF2, ARX, PHF6, CDKL5, PCDH19, TBC1D24, GOSR2, UPF3B, HCFC1, IQSEC2, RNF113A, STAG2, USP9X, THOC2, GPKOW, or ZSWIM6). Many of these genes pointed to new and unexpected biological pathways essential for normal brain function (e.g. non-sense mediated mRNA decay, NMD). 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 (including stem cell) and animal models.

Connect With Me

External Profiles

Professor Jozef Gecz

Professor Jozef Gecz is Channel 7 Children’s Research Foundation Chair for the Prevention of Childhood Disability and Australian NH&MRC Senior Principal Research Fellow at the University of Adelaide.

He is the founding head of the Neurogenetics Research Program located at the Medical School, 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 200 different disease genes (e.g. AFF2, ARX, PHF6, CDKL5, PCDH19, TBC1D24, GOSR2, UPF3B, HCFC1, IQSEC2, RNF113A, STAG2, USP9X, THOC2, GPKOW, or ZSWIM6). Many of these genes pointed to new and unexpected biological pathways essential for normal brain function (e.g. non-sense mediated mRNA decay, NMD). 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 (including stem cell) and animal models.

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

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 (>100 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 10 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) and IQSEC2 (Nature Genetics 2010 and 2 other articles).

Most recently Prof Gecz’s pioneering research has delved into the role of non-coding regulatory mutations causing ID. He identified a mutation in HCFC1 in a large Australian family with non-syndromic ID, which had eluded 3 generations of scientists and clinicians for more than 40 years (Am J Human Genet 2012).  While initially regarded as a somewhat separate field to epilepsy genetics, discoveries in intellectual disability by Prof Gecz and others, are showing increasing overlap with epilepsy, explaining their not infrequent co-occurrence.

Image of neurons.

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, where the first epilepsy genes were discovered. 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 and GOSR2 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).

Gene discovery in Cerebral palsy (CP): CP is also co-morbid with epilepsy. Prof Gecz has recently engaged in gene discovery in CP, a disorder thought to be primarily due to perinatal trauma. In addition to the CP-involved genes he has already published (NKX2.1, Eur J Med Genet 2013; ZC4H2, Am J Human Genet 2013) he recently directed a large whole exome sequencing study of 183 CP patients and their parents (500 exomes, under review). This study (Mol Psych 2015 shows that 1 in 6 CP patients may have a genetic etiology, potentially a major paradigm shift in the field with broad implications for medicine.

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: Over the last 5 years, 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).

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 Wellcome 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). He is a member of the ASID (Autism Spectrum/Intellectual Disability network) established in 2014 and led by Prof E Eichler (Uni Washington, Seattle, USA).

Prof Gecz’s research laboratory is strategically located within the Adelaide Women’s and Children’s Hospital, in immediate proximity to the Diagnostic Molecular Genetics, Diagnostic Cytogenetics, Clinical Genetics (SA Pathology), Neurology and Paediatric 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 (1-2 local, national & international enquiries weekly), or technology transfer from the research domain to use in clinical care (e.g. arrayCGH in 2007 and more recently massively parallel sequencing for targeted and whole exome or genome sequencing).

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
2016 - 2020 Chair in the Prevention of Childhood Disability The University of Adelaide
2015 Fellow Australian Academy of Health and Medical Sciences
2013 - 2018 Senior Principal Research Fellow NHMRC
2010 Founding Fellow of the RCPA Faculty of Science (FFSc(RCPA)) Royal College of Pathologists of Australasia
2009 Professor of Human Genetics The University of Adelaide

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

Journals

Year Citation
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
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
2018 MacLennan, A., Kruer, M., Baynam, G., Moreno-De-Luca, A., Wilson, Y., Zhu, C., . . . Gecz, J. (2018). Cerebral palsy and genomics: an international consortium. Developmental Medicine and Child Neurology, 60(2), 209-210.
DOI
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
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
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), 1-10.
DOI
2018 Frints, S., Ozanturk, A., Rodríguez Criado, G., Grasshoff, U., de Hoon, B., Field, M., . . . Kalscheuer, V. (2018). Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. Molecular Psychiatry, 1-21.
DOI
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
2018 Selvan, N., George, S., Serajee, F. J., Shaw, M., Hobson, L., Kalscheuer, V. M., . . . Wells, L. (2018). O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling.. The Journal of biological chemistry.
DOI
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 Scopus1 WoS3 Europe PMC2
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 Scopus10 WoS11 Europe PMC10
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 Scopus27 WoS25 Europe PMC22
2017 Pham, D., Tan, C., Homan, C., Kolc, K., 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
2017 Vaidyanathan, K., Niranjan, T., Selvan, N., Teo, C., May, M., Patel, S., . . . Wells, L. (2017). Identification and characterization of a missense mutation in the O-linked β-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability. Journal of Biological Chemistry, 292(21), 8948-8963.
DOI Scopus2 WoS2 Europe PMC2
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 Scopus1 WoS1 Europe PMC1
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 Scopus2 WoS2 Europe PMC2
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 Scopus6 WoS5 Europe PMC3
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
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 Scopus5 WoS5 Europe PMC2
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
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 Scopus1
2017 Huang, L., Shum, E., Jones, S., Lou, C. -H., Dumdie, J., Kim, H., . . . Wilkinson, M. (2017). A Upf3b-mutant mouse model with behavioral and neurogenesis defects. Molecular psychiatry, Online, 1-14.
DOI Europe PMC3
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
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 open, 4, 2329048X17738625.
DOI
2017 Palmer, E., Kumar, R., Gordon, C., 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
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 Europe PMC1
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 Scopus17 WoS16 Europe PMC14
2016 Corbett, M., Bellows, S., Li, M., Carroll, R., Micallef, S., Carvill, G., . . . Gecz, J. (2016). Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy. Neurology, 87(19), 1975-1984.
DOI Scopus6 WoS5 Europe PMC3
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 Scopus3 WoS2 Europe PMC3
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
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 Scopus24 WoS23 Europe PMC21
2016 Koolen, D., Pfundt, R., Linda, K., Beunders, G., Veenstra-Knol, H., Conta, E., . . . De Vries, B. (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 Scopus15 WoS14 Europe PMC12
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 Scopus38 Europe PMC30
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 Scopus2 WoS2 Europe PMC2
2016 Afawi, Z., Oliver, K., Kivity, S., Mazarib, A., Blatt, I., Neufeld, M., . . . Berkovic, S. (2016). Multiplex families with epilepsy: success of clinical and molecular genetic characterization. Neurology, 86(8), 713-722.
DOI Scopus6 WoS5 Europe PMC6
2016 Maclennan, A., Thompson, S., & 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 Scopus12 WoS11 Europe PMC9
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 Scopus14 WoS16 Europe PMC16
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 Scopus8 WoS8 Europe PMC8
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 Scopus9 WoS8 Europe PMC6
2016 Kumar, R., Ha, T., Pham, D., Shaw, M., Mangelsdorf, M., Friend, K., . . . 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 Scopus2 WoS2 Europe PMC2
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 Scopus8 WoS8 Europe PMC7
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 Scopus2 WoS3 Europe PMC3
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 Scopus3 WoS4 Europe PMC6
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 Scopus13 WoS10 Europe PMC10
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 Scopus6 WoS5 Europe PMC4
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 Scopus9 WoS11 Europe PMC9
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 Scopus52 WoS54 Europe PMC47
2016 van Bon, B., Coe, B., Bernier, R., Green, C., Gerdts, J., Witherspoon, K., . . . Eichler, E. (2016). Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. Molecular Psychiatry, 21(1), 126-132.
DOI Scopus37 WoS35 Europe PMC30
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 Scopus6 WoS8 Europe PMC9
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 Scopus21 WoS18 Europe PMC17
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 Scopus11 WoS10 Europe PMC5
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 Scopus34 WoS29 Europe PMC27
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 Scopus11 WoS10 Europe PMC9
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 Scopus34 WoS32 Europe PMC24
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 Scopus19 WoS17 Europe PMC13
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 Scopus7 WoS7 Europe PMC5
2015 Corbett, M., Dudding-Byth, T., Crock, P., Botta, E., Christie, L., 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 Scopus12 WoS12 Europe PMC8
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 Scopus24 WoS21 Europe PMC22
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 Scopus39 WoS38 Europe PMC38
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 Scopus4 WoS4 Europe PMC4
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 Scopus4 WoS4 Europe PMC2
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 Scopus4 WoS4 Europe PMC3
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 Scopus57 WoS45 Europe PMC36
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 Scopus34 WoS36 Europe PMC28
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 Scopus9 WoS8 Europe PMC5
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 Scopus32 WoS31 Europe PMC25
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 Scopus2 WoS2 Europe PMC1
2015 Gecz, J., & Corbett, M. (2015). Developmental disorders: deciphering exomes on a grand scale. The Lancet, 385(9975), 1266-1267.
DOI Scopus2 WoS3 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 Scopus157 WoS152 Europe PMC123
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 Scopus9 WoS10 Europe PMC9
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 Scopus31 WoS28 Europe PMC30
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 Scopus81 WoS83 Europe PMC58
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 Scopus33 WoS32 Europe PMC28
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 Scopus10 WoS9 Europe PMC9
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 Scopus38 WoS41 Europe PMC37
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 Scopus1 WoS1 Europe PMC3
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 Scopus23 WoS18 Europe PMC15
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 Scopus6 WoS6 Europe PMC5
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 Scopus28 WoS26 Europe PMC25
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 Scopus18 WoS16 Europe PMC14
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 Scopus23 WoS24 Europe PMC16
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 Scopus27 WoS26 Europe PMC21
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 Scopus19 WoS19 Europe PMC12
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 Scopus126 WoS120 Europe PMC94
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 Scopus44 WoS45 Europe PMC39
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 Scopus18 WoS17 Europe PMC14
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 Scopus34 WoS33 Europe PMC27
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 Scopus1 WoS1 Europe PMC1
2012 Rujirabanjerd, S., Nelson, J., Tarpey, P., Hackett, A., Edkins, S., Raymond, F., . . . 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
2012 Shoubridge, C., & Gecz, J. (2012). Polyalanine tract disorders and neurocognitive phenotypes. Advances in Experimental Medicine and Biology, 769, 185-203.
DOI Scopus5
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 Scopus12 WoS12 Europe PMC7
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 Scopus34 WoS32 Europe PMC35
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 Scopus9 WoS10 Europe PMC6
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 Scopus4 WoS3 Europe PMC3
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 Scopus8 WoS9 Europe PMC6
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 Scopus12 WoS11 Europe PMC9
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 Scopus22 WoS20 Europe PMC18
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 Scopus7 WoS6 Europe PMC5
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 Scopus38 WoS36 Europe PMC32
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 Scopus140 WoS125 Europe PMC98
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 Scopus19 WoS17 Europe PMC17
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 Scopus11 WoS8 Europe PMC9
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 Scopus13 WoS12 Europe PMC7
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 Scopus45 WoS46 Europe PMC37
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 Scopus14 WoS14 Europe PMC8
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 Scopus151 WoS143 Europe PMC129
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 Scopus29 WoS24 Europe PMC19
2011 Mulley, J., Heron, S., Wallace, R., Gecz, J., & Dibbens, L. (2011). "Blinders, phenotype, and fashionable genetic analysis": setting the record straight for epilepsy!. Epilepsia, 52(9), 1757-1758.
DOI Scopus2 WoS1
2010 Gécz, J. (2010). Glutamate receptors and learning and memory. Nature Genetics, 42(11), 925-926.
DOI Scopus15 WoS15 Europe PMC10
2010 Hackett, A., Tarpey, P., Licata, A., Cox, J., Whibley, A., Boyle, J., . . . Abidi, F. (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 Scopus19 Europe PMC13
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 Scopus106 WoS94 Europe PMC58
2010 Gecz, J. (2010). Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. American Journal of Human Genetics, 87(6), 905-914.
DOI Scopus28 WoS24 Europe PMC22
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 Scopus2
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 Scopus74 WoS72 Europe PMC63
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 Scopus70 WoS66 Europe PMC62
2010 Shoubridge, C., Fullston, T., & Gecz, J. (2010). ARX spectrum disorders: Making inroads into the molecular pathology. Human Mutation, 31(8), 889-900.
DOI Scopus93 WoS79 Europe PMC64
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 Scopus7 WoS5 Europe PMC3
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 Scopus26 WoS22 Europe PMC15
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 Scopus22 Europe PMC13
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 Scopus25 Europe PMC20
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 Scopus70 WoS63 Europe PMC58
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 Scopus49 WoS40 Europe PMC32
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 Scopus150 WoS135 Europe PMC118
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 Scopus4 WoS4 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 Scopus109 WoS101 Europe PMC93
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 Scopus362 WoS342 Europe PMC297
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 Scopus19 WoS19 Europe PMC12
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 Scopus35 WoS30 Europe PMC30
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 Scopus47 WoS43 Europe PMC30
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 Scopus54 WoS49 Europe PMC37
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 Scopus16 WoS14 Europe PMC12
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 Scopus8 WoS10 Europe PMC7
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 Scopus53 WoS54 Europe PMC46
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 Scopus345 WoS320 Europe PMC285
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 Scopus20 WoS13 Europe PMC12
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 Scopus43 WoS40 Europe PMC31
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 Scopus80 WoS72 Europe PMC68
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 Scopus13 WoS12 Europe PMC8
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 Scopus127 WoS111 Europe PMC100
2009 Lugtenberg, D., Kleefstra, T., Oudakker, A., Nillesen, W., Yntema, H., Tzschach, A., . . . de Brouwer, A. (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
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.
Scopus22 WoS22 Europe PMC20
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 Scopus43 WoS37 Europe PMC21
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 WoS11 Europe PMC8
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 Scopus211 WoS195 Europe PMC149
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 Scopus96 WoS91 Europe PMC75
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 Scopus123 WoS108 Europe PMC94
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 Scopus10 WoS7 Europe PMC4
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 Scopus97 WoS86 Europe PMC52
2008 Chiurazzi, P., Schwartz, C., Gecz, J., & Neri, G. (2008). XLMR genes: update 2007. European Journal of Human Genetics, 16(4), 422-434.
DOI Scopus126 WoS111 Europe PMC88
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 Scopus118 WoS114 Europe PMC101
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 Scopus8 WoS6 Europe PMC4
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 Scopus51 WoS51 Europe PMC42
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 Scopus98 WoS86 Europe PMC76
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 Scopus44 WoS38 Europe PMC32
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 Scopus33 WoS28 Europe PMC27
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 Scopus129 WoS128 Europe PMC119
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 Scopus46 WoS45 Europe PMC37
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 Scopus86 WoS86 Europe PMC75
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 Scopus17 WoS16 Europe PMC14
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 Scopus79 WoS71 Europe PMC49
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 Scopus116 WoS114 Europe PMC103
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 Scopus5 WoS6 Europe PMC4
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 Scopus32 Europe PMC24
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 WoS66 Europe PMC37
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 Scopus21 WoS20 Europe PMC15
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 Scopus47 WoS41 Europe PMC37
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), 207-208.
DOI Scopus71
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 Scopus28 WoS25 Europe PMC17
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 Scopus63 WoS62 Europe PMC55
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 Scopus28 WoS27 Europe PMC23
2006 Gecz, J., Cloosterman, D., & Partington, M. (2006). ARX: a gene for all seasons. Current Opinion in Genetics & Development, 16(3), 308-316.
DOI Scopus89 WoS85 Europe PMC68
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 Scopus61 WoS61 Europe PMC47
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 Scopus22 WoS20 Europe PMC16
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 Scopus38 WoS34 Europe PMC28
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 Scopus239 WoS218 Europe PMC178
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 Scopus120 WoS109 Europe PMC86
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 Scopus388 WoS356 Europe PMC301
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 Scopus19 WoS16 Europe PMC16
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 Scopus123 WoS101 Europe PMC86
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 Scopus2 WoS1 Europe PMC1
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 Scopus17 WoS16 Europe PMC12
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 Scopus108 WoS89 Europe PMC86
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 Scopus62 WoS58 Europe PMC51
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 Scopus3 Europe PMC3
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 Scopus15 WoS16 Europe PMC14
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 Scopus55 WoS49 Europe PMC42
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 Scopus192 WoS174 Europe PMC134
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 Scopus276 WoS251 Europe PMC201
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 Scopus34 WoS33 Europe PMC27
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 Scopus4 WoS3 Europe PMC3
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 Scopus46 WoS44 Europe PMC35
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 Scopus31 WoS28 Europe PMC24
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 Scopus38 WoS36 Europe PMC27
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. (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 Scopus57 WoS54 Europe PMC41
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 Scopus13 WoS9 Europe PMC6
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 Scopus96 WoS90 Europe PMC72
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 Scopus27 WoS26 Europe PMC21
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 Scopus71 WoS67 Europe PMC56
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 Scopus186 WoS173 Europe PMC142
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 Scopus14 WoS13 Europe PMC9
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 Scopus20 WoS19 Europe PMC15
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 Scopus44 WoS40 Europe PMC24
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 Scopus24 WoS22 Europe PMC20
2003 Savarirayan, R., Thompson, E., & Gecz, J. (2003). Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400). European Journal of Human Genetics, 11(9), 639-642.
DOI Scopus14 WoS11 Europe PMC11
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 Scopus121 WoS110 Europe PMC87
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 Scopus11 WoS12 Europe PMC7
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 Scopus220 WoS209 Europe PMC164
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 Scopus21 WoS20 Europe PMC16
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 Scopus73 WoS68 Europe PMC46
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 Scopus89 WoS87 Europe PMC63
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 Scopus336 WoS314 Europe PMC234
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 Scopus132 WoS127 Europe PMC99
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 Scopus52 WoS47 Europe PMC34
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 Scopus37 WoS31 Europe PMC24
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 Scopus6 WoS6 Europe PMC3
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 Scopus66 WoS53 Europe PMC46
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 Scopus36 WoS31 Europe PMC29
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
2000 Villard, L., Fontès, M., Adès, L., & 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 Scopus38
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
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 WoS32 Europe PMC22
2000 Gecz, J., & Mulley, J. (2000). Genes for cognitive function: Developments on the X. Genome Research, 10(2), 157-163.
DOI Scopus53 WoS51 Europe PMC32
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 Scopus42 WoS33 Europe PMC27
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 Scopus37 WoS31 Europe PMC21
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 Scopus17 WoS16 Europe PMC10
1999 Tiller, G., Gedeon, A., Hannig, V., Dozier, D., Kousseff, B., Cole, W., . . . 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 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 Scopus57 WoS49 Europe PMC41
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 Scopus138 WoS121 Europe PMC95
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 Scopus49 WoS49 Europe PMC41
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 Scopus124 WoS113 Europe PMC86
1999 Villard, L., Briault, S., Lossi, A., 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 Gecz, J., Gedeon, A., Chiveralls, S., Cox, T., Heuertz, S., Le Merrer, M., . . . Mulley, J. (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 Briault, S., Villard, L., Lossi, A., 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., Gecz, J., Gedeon, A., Mulley, J., Richards, R., & Yu, S. (1999). Fragile sites, DNA methylation and mental retardation.. MOLECULAR PSYCHIATRY, 4, S19.
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 Scopus46 WoS42 Europe PMC19
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 Scopus40 WoS40 Europe PMC22
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 Scopus57 WoS53 Europe PMC31
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 Scopus230 WoS222 Europe PMC151
1996 Villard, L., Toutain, A., Lossi, A., 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.
Scopus51 WoS53 Europe PMC39
1996 Villard, L., Gecz, J., Mattéi, J., 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 Scopus72 WoS71 Europe PMC53
1995 Gecz, J., Gaunt, S., Passage, E., Burton, R., Cudrey, C., Pearce, J., & Fontes, M. (1995). Assignment of a polycomb-like chromobox gene (CBX2) to human chromosome 17q25. Genomics, 26(1), 130-133.
DOI Scopus15 WoS16 Europe PMC11
1995 Villard, L., Gecz, J., Colleaux, L., Lossi, A., 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., Keinanen, M., Ades, L., Kaariainen, H., Gecz, J., Baker, E., . . . Mulley, J. (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.
Scopus37 WoS43 Europe PMC26
1994 Stayton, C., Dabovic, B., Gulisano, M., Gecz, J., Broccoll, V., Glovanazzl, S., . . . Consalez, G. (1994). Cloning and characterization of a new human Xq13 gene, encoding a putative helicase. Human Molecular Genetics, 3(11), 1957-1964.
DOI Scopus46 WoS46 Europe PMC28
1994 VILLARD, L., GECZ, J., COLLEAUX, L., LOSSI, A., & FONTES, M. (1994). PHYSICAL AND TRANSCRIPTIONAL MAPPING IN THE XQ12-]Q21 REGION. CYTOGENETICS AND CELL GENETICS, 67(4), 337.
1994 GECZ, J., VILLARD, L., LOSSI, A., & 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 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, 8(2), 121-127.
Scopus3 WoS4 Europe PMC1
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 Scopus37 WoS41 Europe PMC27
1993 Gécz, J. (1993). DNA diagnosis of hemophilia A in a family without an affected proband. Bratislavske Lekarske Listy, 94(6), 326-328.
1993 Kádasi, L., Gécz, J., Saksová, L., & Thurzová, M. (1993). Molecular genetic analysis of deletions in the Duchenne and Becker types of progressive muscular dystrophy. Bratislavske Lekarske Listy, 94(5), 249-253.
Scopus2
1993 Consalez, G., Gecz, J., Stayton, C., 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 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 Cystic Fibrosis Genotype-Phenotype Consortium. (1993). Correlation between genotype and phenotype in patients with cystic fibrosis.. The New England journal of medicine, 329(18), 1308-1313.
DOI Europe PMC163
1993 VILLARD, L., GECZ, J., LOSSI, A., & 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 GECZ, J., VILLARD, L., LOSSI, A., & 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., 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 Scopus19 WoS20 Europe PMC11
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 Scopus1 WoS4 Europe PMC2
1992 Consalez, G., Gecz, J., Stayton, C., 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 Scopus7 WoS10 Europe PMC5
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 Gécz, J., Saksová, L., Kádasi, L., & Véghová, E. (1992). Identification of a de novo mutation in a factor FVIII:C gene in a family requesting prenatal diagnosis of hemophilia A. Bratislavske Lekarske Listy, 93(9), 459-462.
1992 Kádasi, L., Gécz, J., Puliti, A., Devoto, M., Ferák, V., Romeo, G., . . . Hruskovic, I. (1992). The delta F508 mutation which causes cystic fibrosis and its association with closely linked DNA polymorphisms in the Slovak population. Bratislavske Lekarske Listy, 93(3), 141-145.
1992 Gécz, J., Magdolen, P., Tomová, V., Ondrejcák, M., Hruskovic, I., Hinst, J., & Ferák, V. (1992). Rapid prenatal diagnosis of cystic fibrosis using the polymerase chain reaction: results of the first 5 cases. Bratislavske Lekarske Listy, 93(2), 76-81.
Europe PMC1
1991 Puliti, A., Orriols, J., 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.
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, 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 Scopus7 WoS9 Europe PMC3
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 Scopus1
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. B. Patel, P. R. Preedy, & C. R. Martin (Eds.), Comprehensive Guide to Autism (pp. 1663-1678). New York: Springer.
DOI
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 Scopus3 Europe PMC3
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 Scopus1 Europe PMC1
2012 Shoubridge, C., & Gecz, J. (2012). Polyalanine tract disorders and neurocognitive phenotypes. In A. J. Hannan (Ed.), Tandem Repeat Polymorphisms: Genetic Plasticity, Neural Diversity and Disease (Vol. 769, 1 ed., pp. 185-203). United States: Springer.
Scopus3 WoS5 Europe PMC3
2009 Crawford, J., Partington, M., Corbett, M., Lower, K., & Gecz, J. (2009). Börjeson-Forssman-Lehmann Syndrome. In P. L. Beales, I. S. 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. L. Rimoin, J. M. Connor, A. E. H. Emery, R. E. Pyeritz, & B. R. 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
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.
2015 McMichael, G. L., Haan, E., Gecz, J., & et al. (2015). Genetics and cerebral palsy. In Meeting. Sydney, New South Wales.
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.
2012 McMichael, G. L., Gecz, J., Haan, E., & et al. (2012). Cerebral palsy: a new genetic era. In Symposium. Adelaide, South Australia.
2011 Heron, S., Gardner, A., Corbett, M., Gecz, J., Grinton, B., Zuberi, S., . . . Mulley, J. (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., Corbett, M., Schwake, M., Bahlo, M., Dibbens, L., 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., Plagnol, V., Tarpey, P., Abidi, F., Fullston, T., . . . Stratton, M. (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.
2008 Tarpey, P., Dibbens, L., Hynes, K., Smith, R., Edkins, S., Teague, J., . . . Gecz, J. (2008). X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. In JOURNAL OF MEDICAL GENETICS Vol. 45 (pp. S17). Univ York, York, ENGLAND: BMJ PUBLISHING GROUP.
2007 Tarpey, P. S., Raymond, F., Smith, R., Tumer, G., Stevenson, R., Schwartz, C., . . . 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: B M J PUBLISHING GROUP.
2005 Tarpey, P., Fryer, A., Gecz, J., Goodship, J., Partington, M., Price, S., . . . Raymond, F. (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: B M J PUBLISHING GROUP.
2004 Craig, J., 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., 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.
2003 Kalscheuer, V., Freude, K., Jensen, L., Musante, L., Yntema, H., Gecz, J., . . . Ropers, 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 Craig, J., Rattray, K., Troski, M., Mackey, D., 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., Bardy, P., Gecz, J., Gonda, T., Cosgrove, L., & D'Andrea, R. (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 Burdon, K., McKay, J., Sale, M., Russell-Eggitt, I., Mackey, D., Wirth, M., . . . Craig, J. (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., 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., Finnis, M., Hobson, L., Hodgson, B., Turner, G., Partington, M., . . . Gecz, J. (2002). AFX 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., Shaw, M., Lower, K., Lewis, 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., Turner, G., Kerr, B., Mathews, K., Shaw, M., Schelley, S., . . . Gecz, J. (2002). Mutations in a novel PHD finger gene, PHF6, cause Borjeson-Forssman-Lehmann Syndrome. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 71 (pp. 190). BALTIMORE, MARYLAND: UNIV CHICAGO PRESS.
2001 Sanoamuang, L., Segers, H., Shiel, R., & Gulati, R. (2001). Preface. In Hydrobiologia Vol. 446-447 (pp. 5-6).
DOI
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
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., Singla, A., Starokadomskyy, P., Deng, Z., Osborne, D., Li, H., . . . Burstein, E. (2014). Identification of a Novel Complex Required for WASH-dependent Receptor Trafficking. Poster session presented at the meeting of MOLECULAR BIOLOGY OF THE CELL. Philadelphia, PA: AMER SOC CELL BIOLOGY.
2014 Dibbens, L., Scheffer, I., Regan, B., Mandelstam, S., Crompton, D., Hodgson, B., . . . Heron, S. (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 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
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 Dibbens, L., de Vries, B., Donatello, S., Heron, S., Hodgson, B., Chintawar, S., . . . Scheffer, I. (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 GOSR2 Mutation. 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.

Current Competitive Research Funding

International Competitive Schemes

Date Project/No. Investigators Funding Body Amount
2016   Gecz J, Thomas P Insieme per la Ricerca PCDH19 – ONLUS $50,000
2016   Thomas P, Gecz J PCDH19 Alliance, USA $50,000

National Competitive Schemes

Date Project/No. Investigators Funding Body Amount
2013-2016 1063808 Gecz J, Jolly L, Wilkinson M NHMRC $763,953
2016-2020 1091593 Berkovic S, Jackson G, Gecz J, Connelly A, Scheffer I, O'Brien T, Petrou S, Calamante F, Reid C NHMRC $16,110,330

Current Higher Degree by Research Supervision (University of Adelaide)

Date Role Research Topic Program Degree Type Student Load Student Name
2017 Co-Supervisor Genetic and Environmental Interactions in the Causation of Cerebral Palsy Doctor of Philosophy Doctorate Full Time Ms Sayaka Kayumi
2016 Principal Supervisor Variable clinical and molecular expressivity of PCDH19 mutations Doctor of Philosophy Doctorate Full Time Miss Kristy Louise Kolc
2016 Principal Supervisor Developing a Fluorescent NMD Reporter for use in Cells and Mice Doctor of Philosophy Doctorate Full Time Miss Deepti Dianna Domingo
2014 Principal Supervisor The Role of UPF3B and Nonsense Mediated mRNA Decay Surveillance in the Pathology of Intellectual Disability Doctor of Philosophy Doctorate Full Time Miss Debrah Sadie Renders

Past Higher Degree by Research Supervision (University of Adelaide)

Date Role Research Topic Program Degree Type Student Load Student Name
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 Miss Claire Homan
2012 - 2016 Principal Supervisor The Genetic Determinants of Cerebral Palsy Doctor of Philosophy Doctorate Full Time Ms 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 Ms 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 Mr 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

Board Memberships

Date Role Board name Institution name Country
2015 - ongoing Director Telethon Kids Board of Directors Telethon Kids Australia

Committee Memberships

Date Role Committee Institution Country
2018 - 2020 Member Human Genome 2020 Meeting Human Genome Organisation Australia
2017 - 2019 Member World Congress of Psychiatric Genetics 2019
2015 - ongoing Member Telethon Kids Scientific Advisory Council Telethon Kids Institute 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

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
Campus
North Terrace
Building
AHMS, floor 8
Room Number
WS8068.01
Org Unit
Adelaide Medical School

top