Jozef Gecz

  • 14306 Citations
  • 65 h-Index
1988 …2020

Research output per year

If you made any changes in Pure these will be visible here soon.

Personal profile

Public Profile


RNDr (Doctor rerum naturae), PhD

Brief biography:

Jozef Gécz is a NHMRC Senior Principal Research Fellow and Professor of Human Genetics at the School of Medicine, University of Adelaide. He joined the SAHMRI Women and Kids Theme in April 2016 after being awarded 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 30 years of competitive research, he has discovered or contributed to the discovery of numerous (>150) genes for various forms of neurodevelopmental disabilities (e.g. FMR2, ARX, CDKL5, PHF6, PCDH19, UPF3B, IQSEC2, TBC1D24, USP9X or HCFC1 to name a few).

Jozef has published in excess of 253 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.


1986 Prize of Ministry of Education - awarded to top 10 students in the country

1989 Gold Medal of the Slovak Academy of Sciences - award to young scientist

1990 ESHG (European Society of Human Genetics) Travel award

1991 FEBS (Federation of European Biochemical Societies) Travel award

1994 Soros Foundation Travel award

2000 Nominated to HUGO Council

2005 Elected, president of the SA branch of HGSA, member of the HGSA Council

2005 Inaugural HGSA (Human Genetics Society of Australasia) 'Sutherland' lecture award’.

2007 South Australian Great Finalist in ‘Excellence in research for public good outcomes’

2008 Toshi Yamada memorial lecture, Institute of Molecular Biosciences and Queensland Institute of Brain Research, Queensland, Australia.

2009 NARF (National Association of Research Fellows) annual lecture award, Sydney, November 27, 2009.

2010 NHMRC Excellence Award for the highest ranking Program Grant Application (NHMRC 628952).

2010 Founding Fellow of the Faculty of Science of the Royal College of Pathologists of Australasia (FFSc RCPA)

2012 Izakovic Memorial Medal Award of the Slovak Society of Medical Genetics.

2012 Award of the Associazione Abitanti Centro Storico di Roma (Rome, Italy) for research into molecular genetics of the disorders of the Central nervous system.

2015 Fellow of the AAHMS (Australian Academy of Health and Medical Sciences).

2016 Spirit of Progress Award, PCDH19 Alliance, San Francisco, USA, June 5, 2016.

2017 Fellow of the Australian Academy of Science

2018 Finalist in the South Australian Scientist of the Year Awards

Selected publications – past five years:

Nguyen LS, Jolly L, Shoubridge C, Chan W, Huang L, Laumonnier F, Raynaud M, Hackett A, Field M, Rodriguez J, Srivastava AK, Lee Y, Addington AM, Rapoport JL, Suren S, Hahn C, Gamble J, Wilkinson MF, Corbett MA, Gécz J. Transcriptome profiling of UPF3B/NMD deficient lymphoblastoid cells from patients with various forms of intellectual disability. Molecular Psychiatry, 17(11):1103-15, 2012.

Huang L, Jolly L, Willis-Owen S, Gardner A, Kumar R, Douglas E, Shoubridge C, Wieczorek D, Tzschach A, Cohen M, Hacket A, Field M, Froyen G, Hu H, Haas SA, Ropers HH, Kalscheuer V, Corbett M, Gécz J. A non-coding, regulatory mutation implicates chromatin-associated gene HCFC1 in non-syndromic intellectual disability. American Journal of Human Genetics, 91(4):694-702, 2012.

Jolly L, Homan C, Jacob R, Barry S, Gécz J. 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):4673-87, 2013.

Homan CC, Kumar R, Nguyen LS, Haan E, Raymond FL, Abidi F, Raynaud M, Schwartz CE, Wood SA, Gécz J* and Jolly LA*. Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth. American Journal of Human Genetics, 94(3):470-8, 2014. * - corresponding author.

Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, Lockhart PJ, Scheffer IE, Alberti A, Shaw M, Pettinato R, Tervo R, de Leeuw N, Reijnders MR, Torchia BS, Peeters H, Thompson E, O'Roak BJ, Fichera M, Hehir-Kwa JY, Shendure J, Mefford HC, Haan E, Gécz J, de Vries BB, Romano C, Eichler EE. Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nature Genetics 46(10):1063-71, 2014.

McMichael G, Bainbridge MN, Haan E, Corbett M, Gardner A, Thompson S, van Bon BWM, van Eyk CL, Broadbent J, Reynolds C, O’Callaghan ME, Nguyen LS, Adelson DL, Russo R, Jhangiani S, Doddapaneni H, Muzny DH, Gibbs RA, Gécz J* and MacLennan AH. Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy. Molecular Psychiatry, 20(2):176-82, 2015. * - corresponding author.

Kumar R, Corbett MA, van Bon BWM, Woenig J, Weir L, Douglas L, Friend KL, Gardner A, Shaw M, Jolly LA, Tan C, Hunter M, Hackett A, Field M, Palmer EE, Leffler M, Rogers C, Boyle J, Bienek M, Jensen C, Van Buggenhout G, Van Esch H, Hoffmann K, Raynaud M, Zhao H, Reed R, Hu H, Haas SA, Haan E, Kalscheuer VM and Gécz J. THOC2 mutations implicate mRNA export pathway in X linked intellectual disability. American Journal of Human Genetics 97(2):302-10, 2015.

Jolly LA, Nguyen LS, Domingo D, Sun Y, Barry S, Hancarova M, Plevova P, Vlckova M, Havlovicova M, Kalscheuer VM, Graziano C, Bonora E, Pippucci T, Sedlacek Z and Gécz J. HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain. Human Molecular Genetics, 24(12):3335-47, 2015.

Gécz J, Corbett M. The Lancet, 385(9975):1266-7, 2015.

Guy MP, Shaw M, Weiner CL, Hobson L, Stark Z, Rose K, Kalscheuer VM, Gécz J*, Phizicky EM. 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):1176-87 2015. * - corresponding author.

Tan C, Shard C, Ranieri E, Hynes K, Pham DH, Leach D, Buchanan G, Corbett M, Shoubridge C, Kumar R, Douglas E, Nguyen LS, Mcmahon J, Sadleir L, Specchio N, Marini C, Guerrini R, Moller RS, Depienne C, Haan E, Thomas PQ, Berkovic SF, Scheffer IE, Gécz J. Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency. Human Molecular Genetics 24(18):5250-9, 2015.

Kumar R, Corbett MA, Van Bon BW, Gardner A, Woenig JA, Jolly LA, Douglas E, Friend K, Tan C, Van Esch H, Holvoet M, Raynaud M, Field M, Leffler M, Budny B, Wisniewska M, Badura-Stronka M, Latos-Bieleńska A, Batanian J, Rosenfeld JA, Basel-Vanagaite L, Jensen C, Bienek M, Froyen G, Ullmann R, Hu H, Love MI, Haas SA, Stankiewicz P, Cheung SW, Baxendale A, Nicholl J, Thompson EM, Haan E, Kalscheuer VM, Gécz J. Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems. Human Molecular Genetics 24(25):7171-81, 2015.

Kumar R, Ha T, Pham D, Shaw M, Mangelsdorf M, Friend KL, Hobson L, Turner G, Boyle J, Field M, Hackett A, Corbett M, Gécz J. A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability. European Journal of Human Genetics, 4(11):1612-1616, 2016.

Corbett MA, Bellows ST, Li M, Carroll R, Micaleff S, Carvill GL, Myers CT, Howell KB, Maljevic S, Lerche H, Gazina EV, Mefford HC, Bahlo M, Berkovic SF, Petrou S, Scheffer IE, Gécz J. Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy. Neurology, in press, 2016.

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output

An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase

Pravata, V. M., Omelková, M., Stavridis, M. P., Desbiens, C. M., Stephen, H. M., Lefeber, D. J., Gecz, J., Gundogdu, M., Õunap, K., Joss, S., Schwartz, C. E., Wells, L. & van Aalten, D. M. F., 1 Jun 2020, In : European Journal of Human Genetics. 28, 6, p. 706-714 9 p.

Research output: Contribution to journalReview article

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy

Kolc, K. L., Sadleir, L. G., Depienne, C., Marini, C., Scheffer, I. E., Møller, R. S., Trivisano, M., Specchio, N., Pham, D., Kumar, R., Roberts, R. & Gecz, J., 1 Dec 2020, In : Translational Psychiatry. 10, 1, 127.

Research output: Contribution to journalArticle

Chromatin-Binding Protein PHF6 Regulates Activity-Dependent Transcriptional Networks to Promote Hunger Response

Gan, L., Sun, J., Yang, S., Zhang, X., Chen, W., Sun, Y., Wu, X., Cheng, C., Yuan, J., Li, A., Corbett, M. A., Dixon, M. P., Thomas, T., Voss, A. K., Gecz, J., Wang, G. Z., Bonni, A., Li, Q. & Huang, J., 17 Mar 2020, In : Cell Reports. 30, 11, p. 3717-3728.e6

Research output: Contribution to journalArticle

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Groupe DI France, 5 Mar 2020, In : American Journal of Human Genetics. 106, 3, p. 356-370 15 p.

Research output: Contribution to journalArticle

2 Citations (Scopus)

EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities

Shaw, M., Winczewska-Wiktor, A., Badura-Stronka, M., Koirala, S., Gardner, A., Kuszel, Ł., Kowal, P., Steinborn, B., Starczewska, M., Garry, S., Scheffer, I. E., Berkovic, S. F. & Gecz, J., Apr 2020, In : European Journal of Medical Genetics. 63, 4, 103799.

Research output: Contribution to journalArticle

1 Citation (Scopus)