Jozef Gecz

Professor, RNDr, PhD, FAA, FAHMS, FFSc(RCPA)

  • Source: Scopus
  • Calculated based on no. of publications stored in Pure and citations from Scopus
1988 …2022

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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.


2020    Excellence in Research (The Australian Collaborative Cerebral Palsy Research Team), The University of Adelaide Award for Outstanding Achievement



  • Genomics
  • neurogenetics
  • Neuroscience
  • early origins of health
  • behaviour and brain health


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  • Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genes

    Blue, G. M., Mekel, M., Das, D., Troup, M., Rath, E., Ip, E., Gudkov, M., Perumal, G., Harvey, R. P., Sholler, G. F., Gecz, J., Kirk, E. P., Liu, J., Giannoulatou, E., Hong, H., Dunwoodie, S. L. & Winlaw, D. S., Feb 2022, In: American Heart Journal. 244, p. 1-13 13 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract

    Jones, J. L., Corbett, M. A., Yeaman, E., Zhao, D., Gecz, J., Gasperini, R. J., Charlesworth, J. C., Mackey, D. A., Elder, J. E., Craig, J. E. & Burdon, K. P., Aug 2021, In: European Journal of Human Genetics. 29, 8, p. 1206-1215 10 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    2 Citations (Scopus)
  • Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus

    Heron, S. E., Regan, B. M., Harris, R. V., Gardner, A. E., Coleman, M. J., Bennett, M. F., Grinton, B. E., Helbig, K. L., Sperling, M. R., Haut, S., Geller, E. B., Widdess-Walsh, P., Pelekanos, J. T., Bahlo, M., Petrovski, S., Heinzen, E. L., Hildebrand, M. S., Corbett, M. A., Scheffer, I. E., Gécz, J. & 1 others, Berkovic, S. F., 4 May 2021, In: Neurology. 96, 18, p. e2251-e2260

    Research output: Contribution to journalArticlepeer-review

  • Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy (Nature Genetics, (2020), 52, 10, (1046-1056), 10.1038/s41588-020-0695-1)

    Jin, S. C., Lewis, S. A., Bakhtiari, S., Zeng, X., Sierant, M. C., Shetty, S., Nordlie, S. M., Elie, A., Corbett, M. A., Norton, B. Y., van Eyk, C. L., Haider, S., Guida, B. S., Magee, H., Liu, J., Pastore, S., Vincent, J. B., Brunstrom-Hernandez, J., Papavasileiou, A., Fahey, M. C. & 57 others, Berry, J. G., Harper, K., Zhou, C., Zhang, J., Li, B., Zhao, H., Heim, J., Webber, D. L., Frank, M. S. B., Xia, L., Xu, Y., Zhu, D., Zhang, B., Sheth, A. H., Knight, J. R., Castaldi, C., Tikhonova, I. R., López-Giráldez, F., Keren, B., Whalen, S., Buratti, J., Doummar, D., Cho, M., Retterer, K., Millan, F., Wang, Y., Waugh, J. L., Rodan, L., Cohen, J. S., Fatemi, A., Lin, A. E., Phillips, J. P., Feyma, T., MacLennan, S. C., Vaughan, S., Crompton, K. E., Reid, S. M., Reddihough, D. S., Shang, Q., Gao, C., Novak, I., Badawi, N., Wilson, Y. A., McIntyre, S. J., Mane, S. M., Wang, X., Amor, D. J., Zarnescu, D. C., Lu, Q., Xing, Q., Zhu, C., Bilguvar, K., Padilla-Lopez, S., Lifton, R. P., Gecz, J., MacLennan, A. H. & Kruer, M. C., Mar 2021, In: Nature Genetics. 53, 3, p. 412 1 p.

    Research output: Contribution to journalComment/debatepeer-review

    Open Access
  • Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

    Richard, E. M., Bakhtiari, S., Marsh, A. P. L., Kaiyrzhanov, R., Wagner, M., Shetty, S., Pagnozzi, A., Nordlie, S. M., Guida, B. S., Cornejo, P., Magee, H., Liu, J., Norton, B. Y., Webster, R. I., Worgan, L., Hakonarson, H., Li, J., Guo, Y., Jain, M., Blesson, A. & 85 others, Rodan, L. H., Abbott, M. A., Comi, A., Cohen, J. S., Alhaddad, B., Meitinger, T., Lenz, D., Ziegler, A., Kotzaeridou, U., Brunet, T., Chassevent, A., Smith-Hicks, C., Ekstein, J., Weiden, T., Hahn, A., Zharkinbekova, N., Turnpenny, P., Tucci, A., Yelton, M., Horvath, R., Gungor, S., Hiz, S., Oktay, Y., Lochmuller, H., Zollino, M., Morleo, M., Marangi, G., Nigro, V., Torella, A., Pinelli, M., Amenta, S., Husain, R. A., Grossmann, B., Rapp, M., Steen, C., Marquardt, I., Grimmel, M., Grasshoff, U., Korenke, G. C., Owczarek-Lipska, M., Neidhardt, J., Radio, F. C., Mancini, C., Claps Sepulveda, D. J., McWalter, K., Begtrup, A., Crunk, A., Guillen Sacoto, M. J., Person, R., Schnur, R. E., Mancardi, M. M., Kreuder, F., Striano, P., Zara, F., Chung, W. K., Marks, W. A., van Eyk, C. L., Webber, D. L., Corbett, M. A., Harper, K., Berry, J. G., MacLennan, A. H., Gecz, J., Tartaglia, M., Salpietro, V., Christodoulou, J., Kaslin, J., Padilla-Lopez, S., Bilguvar, K., Munchau, A., Ahmed, Z. M., Hufnagel, R. B., Fahey, M. C., Maroofian, R., Houlden, H., Sticht, H., Mane, S. M., Rad, A., Vona, B., Jin, S. C., Haack, T. B., Makowski, C., Hirsch, Y., Riazuddin, S. & Kruer, M. C., 7 Oct 2021, In: American Journal of Human Genetics. 108, 10, p. 2006-2016 11 p.

    Research output: Contribution to journalArticlepeer-review