Research output per year
Research output per year
Personal profile
Public Profile
Brief biography:
Jozef Gécz is a NHMRC Senior Principal Research Fellow and Professor of Human Genetics at the Adelaide Medical School, the University of Adelaide. He joined the SAHMRI Women and Kids Theme in April 2016 as the Inaugural Channel 7 Children’s Research Foundation Chair for the Prevention of Childhood Disability.
In 2000 Jozef established and currently heads the Neurogenetics Research Program which focuses on genetics and biology of neurodevelopmental disabilities. In his 35 years of competitive research, he has discovered or contributed to the discovery of numerous (>250) genes for various forms of neurodevelopmental disabilities (e.g. FMR2, ARX, CDKL5, PHF6, PCDH19, UPF3B, IQSEC2, TBC1D24, USP9X, HCFC1, ZSWIM6, YY1 or RLIM to name a few).
Jozef has published in excess of 348 peer-reviewed publications. The main research interest of the Neurogenetics Research Program is gene identification and functional, cellular and molecular modelling of intellectual disabilities, epilepsies, autisms and cerebral palsies for better management and eventually treatment of these disorders.
Awards/Honours:
2020 Excellence in Research (The Australian Collaborative Cerebral Palsy Research Team), The University of Adelaide Award for Outstanding Achievement
Keywords
- Genomics
- neurogenetics
- Neuroscience
- early origins of health
- behaviour and brain health
Network
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare
Stark, Z., Boughtwood, T., Haas, M., Braithwaite, J., Gaff, C. L., Goranitis, I., Spurdle, A. B., Hansen, D. P., Hofmann, O., Laing, N., Metcalfe, S., Newson, A. J., Scott, H. S., Thorne, N., Ward, R. L., Dinger, M. E., Best, S., Long, J. C., Grimmond, S. M., Pearson, J., & 38 others, 2 Mar 2023, In: American Journal of Human Genetics. 110, 3, p. 419-426 8 p.Research output: Contribution to journal › Review article › peer-review
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Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
Broad Institute Center for Mendelian Genomics, Genomic Autopsy Study Research Network, Gecz, J. & Perez-Jurado, L. A., Jan 2023, In: Nature Medicine. 29, 1, p. 180-189 10 p.Research output: Contribution to journal › Article › peer-review
2 Citations (Scopus) -
Phase 2, placebo-controlled clinical study of oral ganaxolone in PCDH19-clustering epilepsy
Sullivan, J., Gunning, B., Zafar, M., Guerrini, R., Gecz, J., Kolc, K. L., Zhao, Y., Gasior, M., Aimetti, A. A. & Samanta, D., 1 Mar 2023, In: Epilepsy Research. 191, p. 107112 1 p.Research output: Contribution to journal › Article › peer-review
Open Access -
The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance
Brazane, M., Dimitrova, D. G., Pigeon, J., Paolantoni, C., Ye, T., Marchand, V., Da Silva, B., Schaefer, E., Angelova, M. T., Stark, Z., Delatycki, M., Dudding-Byth, T., Gecz, J., Plaçais, P. Y., Teysset, L., Préat, T., Piton, A., Hassan, B. A., Roignant, J. Y., Motorin, Y., & 1 others, 1 Apr 2023, In: Life Science Alliance. 6, 4Research output: Contribution to journal › Article › peer-review
Open Access -
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity
Undiagnosed Diseases Network, 3 Mar 2022, In: American Journal of Human Genetics. 109, 3, p. 518-532 15 p.Research output: Contribution to journal › Article › peer-review
2 Citations (Scopus)
Prizes
Activities
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PCDH19 clustering epilepsy, disorder of cellular mosaics.
Jozef Gecz (Invited speaker)
2022Activity: Invited talks and oral presentations › Invited Keynote and Plenary Presentations
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Resolving Unresolved Neurodevelopmental Disorders
Jozef Gecz (Invited speaker)
2022Activity: Invited talks and oral presentations › Invited Keynote and Plenary Presentations
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Genetics and Biology of neurodevelopmental disabilities.
Jozef Gecz (Invited speaker)
2021Activity: Invited talks and oral presentations › Invited Keynote and Plenary Presentations
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Considerations for Genome Editing in Neurological Disorders
Jozef Gecz (Speaker)
2021Activity: Invited talks and oral presentations › Invited Keynote and Plenary Presentations
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PCDH19 Clustering Epilepsy
Jozef Gecz (Keynote speaker)
2021Activity: Invited talks and oral presentations › Invited Keynote and Plenary Presentations