Jozef Gecz

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

Calculated based on number of publications stored in Pure and citations from Scopus
1988 …2024

Research activity per year

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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

Collaborations and top research areas from the last five years

Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
  • Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment

    Bhattacharjee, R., Jolly, L. A., Corbett, M. A., Wee, I. C., Rao, S. R., Gardner, A. E., Ritchie, T., van Hugte, E. J. H., Ciptasari, U., Piltz, S., Noll, J. E., Nazri, N., van Eyk, C. L., White, M., Fornarino, D., Poulton, C., Baynam, G., Collins-Praino, L. E., Snel, M. F., Nadif Kasri, N., & 4 othersHemsley, K. M., Thomas, P. Q., Kumar, R. & Gecz, J., 8 Feb 2024, In: Nature Communications. 15, 1, p. 1210 1 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy

    de Nys, R., van Eyk, C. L., Ritchie, T., Møller, R. S., Scheffer, I. E., Marini, C., Bhattacharjee, R., Kumar, R. & Gecz, J., Dec 2024, In: Translational psychiatry. 14, 1, 65.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

    Li, D., Wang, Q., Bayat, A., Battig, M. R., Zhou, Y., Bosch, D. G. M., van Haaften, G., Granger, L., Petersen, A. K., Pérez-Jurado, L. A., Aznar-Laín, G., Aneja, A., Hancarova, M., Bendova, S., Schwarz, M., Pourova, R. K., Sedlacek, Z., Keena, B. A., March, M. E., Hou, C., & 133 othersO’Connor, N., Bhoj, E. J., Harr, M. H., Lemire, G., Boycott, K. M., Towne, M., Li, M., Tarnopolsky, M., Brady, L., Parker, M. J., Faghfoury, H., Parsley, L. K., Agolini, E., Dentici, M. L., Novelli, A., Wright, M., Palmquist, R., Lai, K., Scala, M., Striano, P., Iacomino, M., Zara, F., Cooper, A., Maarup, T. J., Byler, M., Lebel, R. R., Balci, T. B., Louie, R., Lyons, M., Douglas, J., Nowak, C., Afenjar, A., Hoyer, J., Keren, B., Maas, S. M., Motazacker, M. M., Martinez-Agosto, J. A., Rabani, A. M., McCormick, E. M., Falk, M. J., Ruggiero, S. M., Helbig, I., Møller, R. S., Tessarollo, L., Ardori, F. T., Palko, M. E., Hsieh, T. C., Krawitz, P. M., Ganapathi, M., Gelb, B. D., Jobanputra, V., Wilson, A., Greally, J., Jacquemont, S., Jizi, K., Bruel, A. L., Quelin, C., Misra, V. K., Chick, E., Romano, C., Greco, D., Arena, A., Morleo, M., Nigro, V., Seyama, R., Uchiyama, Y., Matsumoto, N., Taira, R., Tashiro, K., Sakai, Y., Yigit, G., Wollnik, B., Wagner, M., Kutsche, B., Hurst, A. C. E., Thompson, M. L., Schmidt, R., Randolph, L., Spillmann, R. C., Shashi, V., Higginbotham, E. J., Cordeiro, D., Carnevale, A., Costain, G., Khan, T., Funalot, B., Mau-Them, F. T., Garcia Moya, L. F., García-Miñaúr, S., Osmond, M., Chad, L., Quercia, N., Carrasco, D., Li, C., Sanchez-Valle, A., Kelley, M., Nizon, M., Jensson, B. O., Sulem, P., Stefansson, K., Gorokhova, S., Busa, T., Rio, M., Habdallah, H. H., Lesieur-Sebellin, M., Amiel, J., Pingault, V., Mercier, S., Vincent, M., Philippe, C., Fatus-Fauconnier, C., Friend, K., Halligan, R. K., Biswas, S., Rosser, J., Shoubridge, C., Corbett, M., Barnett, C., Gecz, J., Leppig, K., Slavotinek, A., Marcelis, C., Pfundt, R., de Vries, B. B. A., van Slegtenhorst, M. A., Brooks, A. S., Cogne, B., Rambaud, T., Tümer, Z., Zackai, E. H., Akizu, N., Song, Y. & Hakonarson, H., 20 Jan 2024, In: Journal of Clinical Investigation. 134, 1, e171235.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    1 Citation (Scopus)
  • Aicardi Syndrome Is a Genetically Heterogeneous Disorder

    Ha, T. T., Burgess, R., Newman, M., Moey, C., Mandelstam, S. A., Gardner, A. E., Ivancevic, A. M., Pham, D., Kumar, R., Smith, N., Patel, C., Malone, S., Ryan, M. M., Calvert, S., van Eyk, C. L., Lardelli, M., Berkovic, S. F., Leventer, R. J., Richards, L. J., Scheffer, I. E., & 2 othersGecz, J. & Corbett, M. A., Aug 2023, In: Genes. 14, 8, 1565.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • 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 othersWaddell, N., Barnett, C. P., Cook, M., Field, M., Fielding, D., Fox, S. B., Gecz, J., Jaffe, A., Leventer, R. J., Lockhart, P. J., Lunke, S., Mallett, A. J., McGaughran, J., Mileshkin, L., Nones, K., Roscioli, T., Scheffer, I. E., Semsarian, C., Simons, C., Thomas, D. M., Thorburn, D. R., Tothill, R., White, D., Dunwoodie, S., Simpson, P. T., Phillips, P., Brion, M. J., Finlay, K., Quinn, M. CJ., Mattiske, T., Tudini, E., Boggs, K., Murray, S., Wells, K., Cannings, J., Sinclair, A. H., Christodoulou, J. & North, K. N., 2 Mar 2023, In: American Journal of Human Genetics. 110, 3, p. 419-426 8 p.

    Research output: Contribution to journalReview articlepeer-review

    4 Citations (Scopus)