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Professor Jozef Gecz

Telephone +61 8 8161 6339
Position Professor
Fax +61 8 8161 7342
Building WCH - Clarence Rieger Bld
Floor/Room 9 41
Campus Womens & Childrens Hospital
Org Unit Paediatrics and Reproductive Health

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Awards & Achievements



Awards and Prizes

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


Current Appointments:

• Professor of Human Genetics: The University of Adelaide, Department of Paediatrics, School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, Australia
• NH&MRC Senior Principal Research Fellow: The University of Adelaide, Adelaide, Australia
• Affiliate Senior Principal Research Fellow; Women's and Children's Health Research Institute (WCHRI), Adelaide, Australia


Neurogenetics Research Group:

Mark Corbett, PhD: MS McLeod Research Fellow
Lachlan Jolly, PhD: Post Doctoral Research Fellow
Raman Sharma, PhD: Post Doctoral Research Fellow
Duyen Pham, PhD: Post Doctoral Research Fellow

Thuong Ha, MBio: PhD student
Gai McMichael, MPhil: PhD Student
Debrah Renders, IBBL (Hons): PhD Student

Marie Shaw, BSc (Hons): Research Assistant
Alison Gardner, BA: Research Assistant
Renee Carroll, BSc: Research Assistant
Stanley Tan, Bbiotech (Hons) : Research Assistant


Close Collaborators:

Euro MRX Consortium: Prof. J. Chelly Paris, France; Prof. H. Ropers Berlin, Germany;. B. Hamel Nijmegen, Holland; Prof. C. Moraine Tours, France and Prof. J-P. Fryns Leuwen, Belgium.
ASID Consortium: Prof. E. Eichler: Washington University, Seattle, USA
IGOLD: Prof. C Schwartz: Greenwood Genetics Centre, South Carolina, USA; Dr. R Lucy Raymond, Cambridge, UK.
Prof. D. Geschwind: UCLA, Los Angeles, USA
Prof. M. Wilkinson: UCSD, San Diego, USA
Dr. Maria Passafaro: Telethon Institute, Milano, Italy
Prof. Richard Gibbs: Baylor College of Medicine, Texas, USA
Dr. A. Hackett and Dr. M. Field: Genetics of Learning Disability service of NSW, Newcastle, Australia
Prof. S. Berkovic and Prof. I. Scheffer: University of Melbourne, Melbourne, Australia
Dr. Melanie Bahlo: WEHI, Melbourne, Australia
Dr. Anne Voss and Dr. Tim Thomas:WEHI, Melbourne, Australia


Past Appointments:

Institute of Molecular Physiology and Genetics, Slovak Academy of Sciences, Slovakia, Staff Scientist (permanent position awarded by the Ministry of Health): 1986
Institute of Molecular Physiology and Genetics, Slovak Academy of Sciences, Slovakia, PhD studies: 1987 -1991
Faculte Medicine, INSERM Unit 49. Marseille, France. INSERM Postdoctoral Fellowship: 1991 - 1993
Institute of Molecular Physiology and Genetics, Slovak Academy of Sciences, Slovakia, Staff Scientist: 1993 - 1994
Women's and Children's Hospital, Adelaide, Australia. Research Officer and Senior Research Officer: 1994 - 2003
The University of Adelaide, Adelaide, Australia. Senior Lecturer (Affiliate Title Holder): 1998 - 2002
Women's and Children's Hospital, Adelaide, Australia. NH&MRC Senior Research Fellow (SRF-B): 2003 - 2008
The University of Adelaide, Adelaide, Australia. Associate Professor (Affiliate Title Holder): 2003 - 2008

Research Interests

Neurogenetics Research Program

Identification of genes and understanding of molecular mechanisms leading to intellectual disabilities, autisms and some epilepsies represents a challenge of significant medical importance.

Our research seeks to further our understanding of human brain function through the identification of genes and characterisation of their naturally occurring mutations implicated in various disorders of the brain intellectual disability and epilepsy in particular. With a broad range of state-of-the-art human genetics and genomics skills, the Neurogenetics team has discovered or contributed to the discovery of more than 50 different genes.

Led by Professor Jozef Gecz, the Neurogenetics Research Program is complemented by a large number of national and international clinical and basic science collaborators, and is currently funded by NHMRC Program and Project Grants and Senior Research Fellowships, a MS McLeod Fellowship, grants from the WCH Foundation and the Channel 7 Children's Research Foundation and philanthropic funds.


Current Research

The four key areas of focus are:
• Genomics and Bioinformatics (led by Dr M Corbett),
• Molecular mechanisms of Intellectual disability (led by Dr C Shoubridge),
• Molecular neuroscience (led by Dr L Jolly),
• Animal models (led by Drs M Corbett and C Shoubridge).


Main Projects

• Neurobiology of epilepsy (Supported by NHMRC Program grant 628952, 2011-2015.).
• Understanding the role of UPF3B and NMD in the pathology of intellectual disability (Supported by NHMRC Project grant 1063808, 2014-2016)
• Identification and functional characterisation of a novel gene implicated in novel neurodegenerative disorder with severe axonal peripheral neuropathy, neurogenic muscular atrophy and optic atrophy (Supported by philanthropic funds.).
• A mouse model for Borjeson-Forssman-Lehmann syndrome (Supported by Channel 7 Research and the WCH foundation - M. Corbett.).
• Investigating the Cell and Molecular Neurobiology of USP9X (Supported by WCH Foundation - L. Jolly.).


Research Funding

Our work is funded by:

• NHMRC Project Grants
• NHMRC Program Grants
• NHMRC Fellowship
• Medvet Funding
• Australian Cancer Research Funding


Original Articles (2009-Present)

Lugtenberg D, Kleefstra T, Oudakker AR, Nillesen WM, Yntema HG, Tzschach A, Raynaud M, Rating D, Journel H, Chelly J, Goizet C, Lacombe D, Pedespan JM, Echenne B, Tariverdian G, O'Rourke D, King MD, Green A, van Kogelenberg M, Van Esch H, Gecz J, Hamel BC, van Bokhoven H, de Brouwer AP. 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):444-53, 2009.


Bensaid M, Melko M, Bechara EG, Davidovic L, Berretta A, Catania MV, Gecz J, Lalli E, Bardoni B. 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):1269-79, 2009.


Laumonnier F, Shoubridge C, Antar C, Nguyen LS, Van Esch H, Kleefstra T, Briault S, Fryns JP, Hamel B, Chelly J, Ropers HH, Ronce N, Blesson S, Moraine C, Gécz J, Raynaud M. 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, 2010.


Burdon KP, Durkin SR, Burke M, Edwards M, Pater J, Straga T, Gecz J, Liebelt JE, Craig JE. A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family. American Journal of Medical Genetics A 149A(4):633-9, 2009.


Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C, O'Meara S, Latimer C, Dicks E, Menzies A, Stephens P, Blow M, Greenman C, Xue Y, Tyler-Smith C, Thompson D, Gray K, Andrews J, Barthorpe S, Buck G, Cole J, Dunmore R, Jones D, Maddison M, Mironenko T, Turner R, Turrell K, Varian J, West S, Widaa S, Wray P, Teague J, Butler A, Jenkinson A, Jia M, Richardson D, Shepherd R, Wooster R, Tejada MI, Martinez F, Carvill G, Goliath R, de Brouwer AP, van Bokhoven H, Van Esch H, Chelly J, Raynaud M, Ropers HH, Abidi FE, Srivastava AK, Cox J, Luo Y, Mallya U, Moon J, Parnau J, Mohammed S, Tolmie JL, Shoubridge C, Corbett M, Gardner A, Haan E, Rujirabanjerd S, Shaw M, Vandeleur L, Fullston T, Easton DF, Boyle J, Partington M, Hackett A, Field M, Skinner C, Stevenson RE, Bobrow M, Turner G, Schwartz CE, Gecz J, Raymond FL, Futreal PA, Stratton MR. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nature Genetics 41(5):535-43, 2009.


Sharma S, Koh KS, Collin C, Dave A, McMellon A, Sugiyama Y, McAvoy JW, Voss AK, Gécz J, Craig JE. NHS-A isoform of the NHS gene is a novel interactor of ZO-1. Experimental Cell Research 315(14):2358-72, 2009.


Demos MK, Fullston T, Partington MW, Gécz J, and Gibson WT.  Clinical Study of Two Brothers with a Novel 33bp Duplication in the ARX Gene. American Journal of Medical Genetics A 149A(7):1482-6, 2009.


Reish O, Fullston T, Regev M, Heyman E, Gécz J.  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 A 149A(8):1655-60, 2009.


Chan WK, Bhalla A, Nguyen LS, Huang L, Gécz J, and Wilkinson MF.  A UPF3- mediated regulatory switch that maintains RNA surveillance.  Nature Structural and Molecular Biology 16(7):747-53, 2009.


Hynes K, Tarpey P, Dibbens LM, Bayly MA, Berkovic SF, Smith R, Al Raisi Z, Turner SJ, Brown NJ, Desai TD, Haan E, Turner G, Christodoulou J, Leonard H, Gill D, Stratton MR, Gécz J (corresponding author), Scheffer IE. 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, 2010.


Rujirabanjerd S, Nelson J, Tarpey PS, Hackett A, Edkins S, Raymond FL, Schwartz CE, Turner G, Iwase S, Shi Y, Futreal PA, Stratton MR, Gecz J. Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation. European Journal of Human Genetics, 18(3):330-335, 2010.


Fullston T, Brueton L, Willis T, Philip S, Macpherson L, Finnis M, Gecz J, Morton J. 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, 2010.


A Hackett, PS Tarpey, A Licata, J Cox, A Whibley, J Boyle, C Rogers, J Grigg, M Partington, RE Stevenson, J Tolmie, JRW Yates, G Turner, M Wilson, AP Futreal, M Corbett, M Shaw, J Gecz, FL Raymond, MR Stratton, CE Schwartz, FE Abidi.  CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. European Journal of Human Genetics, 18(5):544-552, 2010.


Shoubridge C, Tan MH, Fullston T, Cloosterman D, Coman D, McGillivray G, Mancini GM, Kleefstra T, Gécz J. 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, 5;3:1, 2010.


Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, Levy DL, Ballif BC, Platky K, Farber DM, Gowans GC, Wetherbee JJ, Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R, Banks VC, Smith W, McDonald MT, Hoo JJ, French BN, Hudson C, Johnson JP, Ozmore JR, Moeschler JB, Surti U, Escobar LF, El-Khechen D, Gorski JL, Kussmann J, Salbert B, Lacassie Y, Biser A, McDonald-McGinn DM, Zackai EH, Deardorff MA, Shaikh TH, Haan E, Friend KL, Fichera M, Romano C, Gécz J, DeLisi LE, Sebat J, King MC, Shaffer LG, Eichler EE.A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nature Genetics, 42(3):203-209, 2010.


Giannandrea M, Bianchi V, Mignogna ML, Sirri A, Carrabino S, D'Elia E, Vecellio M, Russo S, Cogliati F, Larizza L, Ropers HH, Tzschach A, Kalscheuer V, Oehl-Jaschkowitz B, Skinner C, Schwartz CE, Gecz J, Van Esch H, Raynaud M, Chelly J, de Brouwer AP, Toniolo D, D'Adamo P. 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, 2010.


Jensen LR, Bartenschlager H, Rujirabanjerd S, Tzschach A, Nümann A, Janecke AR, Spörle R, Stricker S, Raynaud M, Nelson J, Hackett A, Fryns JP, Chelly J, de Brouwer AP, Hamel B, Gecz J, Ropers HH, Kuss AW. A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C. Pathogenetics, 3(1):2, 2010.


Lugtenberg D, Zangrande-Vieira L, Kirchhoff M, Whibley AC, Oudakker AR, Kjaergaard S, Vianna-Morgante AM, Kleefstra T, Ruiter M, Jehee FS, Ullmann R, Schwartz CE, Stratton M, Raymond FL, Veltman JA, Vrijenhoek T, Pfundt R, Schuurs-Hoeijmakers JH, Hehir-Kwa JY, Froyen G, Chelly J, Ropers HH, Moraine C, Gècz J, Knijnenburg J, Kant SG, Hamel BC, Rosenberg C, van Bokhoven H, de Brouwer AP. Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation. American Journal of Medical Genetics A, 52A(3):638-645, 2010.


Van Vlierberghe P, Palomero T, Khiabanian H, Van der Meulen J, Castillo M, Van Roy N, De Moerloose B, Philippé J, González-García S, Toribio ML, Taghon T, Zuurbier L, Cauwelier B, Harrison CJ, Schwab C, Pisecker M, Strehl S, Langerak AW, Gecz J, Sonneveld E, Pieters R, Paietta E, Rowe JM, Wiernik PH, Benoit Y, Soulier J, Poppe B, Yao X, Cordon-Cardo C, Meijerink J, Rabadan R, Speleman F, Ferrando A. PHF6 mutations in T-cell acute lymphoblastic leukemia. Nature Genetics, 42(4):338-342, 2010.


White R, Ho G, Schmidt S, Scheffer IE, Fischer A, Yendle SC, Bienvenu T, Nectoux J, Ellaway CJ, Darmanian A, Tong X, Cloosterman D, Bennetts B, Kalra V, Fullston T, Gecz J, Cox TC, Christodoulou J. Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders. Twin Research and Human Genetics, 13(2):168-178, 2010.


Shoubridge C, Tarpey PS, Abidi F, Ramsden SL, Rujirabanjerd S, Murphy JA, Boyle J, Shaw M, Gardner A, Proos A, Puusepp H, Raymond FL, Schwartz CE, Stevenson RE, Turner G, Field M, Walikonis RS, Harvey RJ, Hackett A, Futreal PA, Stratton MR, Gécz J. Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. Nature Genetics, 42(6):486-488, 2010.


Whibley AC, Plagnol V, Tarpey PS, Abidi F, Fullston T, Choma MK, Boucher CA, Shepherd L, Willatt L, Parkin G, Smith R, Futreal PA, Shaw M, Boyle J, Licata A, Skinner C, Stevenson RE, Turner G, Field M, Hackett A, Schwartz CE, Gecz J, Stratton MR, Raymond FL. Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability. American Journal of Human Genetics, 87(2):173-188, 2010.


Corbett MA, Bahlo M, Jolly L, Afawi Z, Gardner AE, Oliver KL, Tan S, Coffey A, Mulley JC, Dibbens LM, Simri W, Shalata A, Kivity S, Jackson GD, Berkovic SF, Gecz J. A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24. American Journal of Human Genetics, 87(3):371-5, 2010.


Noor A, Whibley A, Marshall CR, Gianakopoulos PJ, Piton A, Carson AR, Orlic-Milacic M, Lionel AC, Sato D, Pinto D, Drmic I, Noakes C, Senman L, Zhang X, Mo R, Gauthier J, Crosbie J, Pagnamenta AT, Munson J, Estes AM, Fiebig A, Franke A, Schreiber S, Stewart AF, Roberts R, McPherson R, Guter SJ, Cook EH Jr, Dawson G, Schellenberg GD, Battaglia A, Maestrini E; Autism Genome Project Consortium, Jeng L, Hutchison T, Rajcan-Separovic E, Chudley AE, Lewis SM, Liu X, Holden JJ, Fernandez B, Zwaigenbaum L, Bryson SE, Roberts W, Szatmari P, Gallagher L, Stratton MR, Gecz J, Brady AF, Schwartz CE, Schachar RJ, Monaco AP, Rouleau GA, Hui CC, Lucy Raymond F, Scherer SW, Vincent JB. Disruption at the PTCHD1 locus on Xp22.11 in autism spectrum disorder and intellectual disability. Science Translational Medicine, 2(49):49ra68, 2010.


Hattersley K, Laurie KJ, Liebelt JE, Gecz J, Durkin SR, Craig JE, Burdon KP. 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, 19;11:165, 2010.


McLarren KW, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, An J, Nelson TN, Chou A, DeBarber AE, Merkens LS, Michaud JL, Waters PJ, Yin J, McGillivray B, Demos M, Rouleau GA, Grzeschik KH, Smith R, Tarpey PS, Shears D, Schwartz CE, Gecz J, Stratton MR, Arbour L, Hurlburt J, Van Allen MI, Herman GE, Zhao Y, Moore R, Kelley RI, Jones SJ, Steiner RD, Raymond FL, Marra MA, Boerkoel CF. Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. American Journal of Human Genetics, 87(6):905-14, 2010.


Fullston T, Gabb B, Callen D, Ullmann R, Woollatt E, Bain S, Ropers HH, Cooper M, Chandler D, Carter K, Jablensky A, Kalaydjieva L, Gecz J. 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 B Neuropsychiatric Genetics, 156(2):204-214, 2011.


Fullston T, Finnis M, Hackett A, Hodgson B, Brueton L, Baynam G, Norman A, Reish O, Shoubridge C, Gecz J. Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene. Clinical Genetics 80(6): 510-522, 2011.


Jensen LR, Chen W, Moser B, Lipkowitz B, Schroeder C, Musante L, Tzschach A, Kalscheuer VM, Meloni I, Raynaud M, van Esch H, Chelly J, de Brouwer AP, Hackett A, van der Haar S, Henn W, Gecz J, Riess O, Bonin M, Reinhardt R, Ropers HH, Kuss AW. 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):717-20, 2011.


Corbett MA, Schwake M, Bahlo M, Dibbens LM, Lin M, Gandolfo LC, Vears DF, O’Sullivan JD, Robertson T, Bayly MA, Gardner AE, Vlaar AM, Korenke GC, Bloem BR, de Coo IF, Verhagen JMA, Lehesjoki AE, Gecz J*. and Berkovic SF. A Mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. American Journal of Human Genetics, 88(5):657-63, 2011 (* corresponding author).


Melko M, Douguet D, Bensaid M, Zongaro S, Verheggen C, Gecz J, Bardoni B. 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):1873-85, 2011.


Mulley JC, Heron SE, Wallace RH, Gecz J, Dibbens LM. "Blinders, phenotype, and fashionable genetic analysis": setting the record straight for epilepsy! Epilepsia 52(9):1757-8, 2011.


Bruno IG, Karam R, Huang L, Bhardwaj A, Chih. Lou H, Shum EY, Song HW, Corbett M, Gifford WD, Gecz J, Pfaff SL, Wilkinson MF. Identification of a MicroRNA that Activates Gene Expression by Repressing Nonsense-Mediated RNA Decay. Molecular Cell, 42(4):500-10, 2011.


Voineagu I*, Huang L*, Winden K, Lazaro M, Haan E, Nelson J, McGaughran J, Nguyen LS, Friend K, Hackett A, Field M, Gecz J, Geschwind D. CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. Molecular Psychiatry. 17(1):4-7, 2012. LS Huang was my PhD student.


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, Gecz J. Transcriptome profiling of UPF3B/NMD deficient lymphoblastoid cells from patients with various forms of intellectual disability. Molecular Psychiatry, 17(11):1103-15, 2012.


Heron SE, Grinton BE, Kivity S, Afawi Z, Zuberi SM, Hughes JN, Pridmore C, Hodgson BL, Iona X, Sadleir LG, Pelekanos J, Herlenius E, Goldberg-Stern H, Bassan H, HaaN E, Korczyn AD, Gardner AE, Corbett M, Gécz J, Thomas PQ, Mulley JC, Berkovic SF, Scheffer IE, Dibbens LM. PRRT2 mutations cause Benign Familial Infantile Epilepsy (BFIE) and Infantile Convulsions with Choreoathetosis (ICCA) syndrome. American Journal of Human Genetics, 90(1):152-60, 2012.


Shoubridge C, Tan MH, Seiboth G, Gécz J. Mutations of the ARX homeodomain abolish DNA binding and lead to a loss of transcriptional repression. Human Molecular Genetics, 21(7):1639-47, 2012.


Field M, Scheffer IE, Gill D, Wilson M, Christie L, Shaw M, Gardner A, Glubb G, Hobson L, Corbett M, Friend K, Willis-Owen S, Gecz J. Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations. European Journal of Human Genetics, 20(7):806-9, 2012.


Shoubridge C, Gardner A, Schwartz CE, Hackett A, Field M, Gecz J. Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation? European Journal of Human Genetics, 21(7):1639-47, 2012.


Lynch SA, Nguyen LS, LG NY, Waldron M, McDonald D, Gecz J. 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):476-9, 2012.


Tlili A, Hoischen A, Ripoll C, Benabou E, Badel A, Ronan A, Touraine R, Grattau Y, Stora S, van Bon B, de Vries B, Menten B, Bockaert N, Gecz J, Antonarakis SE, Campion D, Potier MC, Bléhaut H, Delabar JM, Janel N. BDNF and DYRK1A Are Variable and Inversely Correlated in Lymphoblastoid Cell Lines from Down Syndrome Patients. Molecular Neurobiology, 46(2):297-303, 2012.


Huang L, Poke G, Gecz J, Gibson K. A Novel Contiguous Gene Deletion of AVPR2 and ARHGAP4 Genes in Two Male Dizygotic Twins with Nephrogenic Diabetes Insipidus and Intellectual Disability. American Journal of Medical Genetics: Part A, 158A(10):2511-8, 2012.


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


Barnett CP, Mencel JJ, Gecz J, Waters W, Kirwin SM, Vinette KM, Uppill M, Nicholl J. Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2-1. American Journal of Medical Genetics: Part A, 158A(12):3168-73, 2012.


Poeta L, Fusco F, Drongitis D, Shoubridge C, Manganelli G, Filosa S, Paciolla M, Courtney M, Collombat P, Lioi MB, Gecz J, Ursini MV, Miano MG. A Regulatory Path Associated with X-Linked Intellectual Disability and Epilepsy Links KDM5C to the Polyalanine Expansions in ARX. American Journal of Human Genetics, 2013 Jan 10;92(1):114-25.


Nguyen LS, Kim H-G, Rosenfeld JA, Shen Y, Gusella JF, Lacassie Y, Layman LC, Shaffer LG & Gecz J. Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders. Human Molecular Genetics, 22(9):1816-25, 2013.


Boissé Lomax L, Bayly MA, Hjalgrim H, Møller RS, Vlaar AM, Aaberg KM, Gandolfo LC, O'Sullivan JD, Korenke GC, Bloem BR, de Coo IF, Verhagen JMA, Said I, Prescott T, Stray-Pedersen A, Rasmussen M, Vears DF, Lehesjoki AE, Corbett MA, Bahlo M, Gecz J, Dibbens LM, Berkovic SF. ‘North Sea’ progressive myoclonus epilepsy: Phenotype of subjects with GOSR2 mutation. Brain, 136(Pt 4):1146-54, 2013.


Afawi Z, Mandelstam S, Korczyn AD, Kivity S, Walid S, Shalata A, Oliver KL, Corbett M, Gecz J, Berkovic SF, Jackson GD. TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation. Epilepsy Research, 105(1-2):240-244, 2013


.Starokadomskyy P Gluck N, Li H, Chen B, Wallis M, Maine GN, Mao X, ZaidiIW, Hein MY, McDonald FJ, Lenzner S, Zecha A, Ropers HH, Kuss AW, McGaughran J, Gecz J, and Burstein E. CCDC22 deficiency in humans blunts activation of pro-inflammatory NF-κB signalling. Journal of Clinical Investigations, 123(5):2244-2456, 2013.


Dibbens LM, de Vries B, Donatello S, Heron SE, Hodgson BL, Chintawar S, Crompton DE, Hughes JN, Bellows ST, Klein KM, Callenbach PMC, Corbett MA, Gardner AE, Kivity S, Iona X, Regan BM, Weller CM, Crimmins D, O’Brien T, Guerrero-López R, Mulley JC, Dubeau F, Licchetta L, Bisulli F, Cossette P, Thomas PQ, Gecz J, Serratosa J, Brouwer OF, Andermann F, Andermann E, van den Maagdenberg AMJM, Pandolfo M, Berkovic SF, Scheffer IE. Mutations in DEPDC5 cause Familial Focal Epilepsy with Variable Foci Nature genetics, 45(5):546-51, 2013.


Melko M, Nguyen LS, Shaw M, Jolly L, Bardoni B, and Gecz J. 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):2984-91, 2013.


McMichael G, Girirajan S, Moreno-De-Luca A, Gecz J, Shard C, Nguyen LS, Nicholl J, Gibson C, Haan E, Eichler E, Martin CL, MacLennan A. Rare Copy Number Variation in Cerebral Palsy. European Journal of Human Genetics, 22(1):40-5, 2013.


Hirata H, Nanda I, van Riesen A, McMichael G, Hu H, Hambrock M, Papon MA, Fischer U, Marouillat S, Ding C, Alirol S, Bienek M, Preisler-Adams S, Grimme A, Seelow D, Webster R, Haan E, MacLennan A, Stenzel W, Yap TY, Gardner A, Nguyen LS, Shaw M, Lebrun N, Haas SA, Kress W, Haaf T, Schellenberger E, Chelly J, Viot G, Shaffer LG, Rosenfeld JA, Kramer N, Falk R, El-Khechen D, Escobar LF, Hennekam R, Wieacker P, Hübner C, Ropers HH, Gecz J, Schuelke M, Laumonnier F, Kalscheuer VM. Mutations of ZC4H2 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, 2013.


Jolly L, Homan C, Jacob R, Barry S, Gecz J. TheUPF3B 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.


Stegeman S, Jolly LA, Premarathne S, Gecz J, Richards LJ, Mackay-Sim A, Wood SA. Loss of Usp9x Disrupts Cortical Architecture, Hippocampal Development and TGFb-Mediated Axonogenesis. PlosONE, 8(7):e68287, 2013.


McMichael G, Haan E, Gardner A, Yap TY, Thompson S, Ouvrier R, Dale RC, Gecz J, MacLennan AH. NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy. European Journal of Medical Genetics, 56(9):506-9, 2013.


Le Fevre AK, Taylor S, Malek NH, Horn D, Carr CW, Abdul-Rahman OA, O’Donnell S, Burgess T, Shaw M, Gecz J, Bain N, Fagan K, Hunter MF. FOXP1 mutations cause intellectual disability and a recognizable phenotype. American Journal of Medical Genetics A, 161A(12):3166-75, 2013.


Lee K, Mattiske T, Kitamura K, Gecz J. and Cheryl Shoubridge1Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation. Human Molecular Genetics, 23(4):1084-94, 2014.


Scheffer I, Heron S, Regan B, Mandelstam S, Crompton D, Hodgson B, Licchetta L, Provini F, Bisulli F, Vadlamudi L, Gecz J, Connelly A, Tinuper P, Ricos M, Berkovic SF, Dibbens L. Mutations in mTOR regulator DEPDC5 cause focal epilepsy with brain malformations. Annals of Neurology, Accepted January 12, 2014.


Metsu S, Rooms L, Rainger J, Taylor MS, Bengani H, Wilson DI, Chilamakuri CSR, Morrison H, Vandeweyer G, Reyniers E, Douglas E, Thompson G, Haan E, Gecz J, FitzPatrick DR, and Kooy RF. FRA2A is a CGG repeat expansion associated with silencing of AFF3. PLOS Genetics, 10(4):e1004242, 2014.


Homan CC, Kumar R, Nguyen LS, Haan E, Raymond FL, Abidi F, Raynaud M, Schwartz CE, Wood SA, Gecz 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.


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.


Ramos-Brossier M, Montani C, Lebrun N, Gritti L, Martin C, Seminatore-Nole C, Toussaint A, Moreno S, Poirier K, Dorseuil O, Chelly J, Hackett A, Gecz J, Bieth E, Faudet A, Heron D, Kooy RF, Loeys B, Humeau Y, Sala C, Billuart P. Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis. Human Molecular Genetics, 24(4):1106-18, 2015.


        Phillips-Krawczak CA, Singla A, Starokadomskyy P, Deng Z, Osborne DG, Li H, Dick CJ, Gomez TS, Koenecke M, Zhang JS, Dai H, Sifuentes-Dominguez LF, Geng LN, Kaufmann SH, Hein MY, Wallis M, McGaughran J, Gecz J, van de Sluis B, Billadeau DD, Burstein E. 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, 2015.


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, Gecz J and MacLennan AH. Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy. Molecular Psychiatry, 20(2):176-82, 2015.


        Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F, Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, Jensen C, Hambrock M, Fischer U, Langnick C, Feldkamp M, Wissink-Lindhout W, Lebrun N, Castelnau L, Rucci J, Montjean R, Dorseuil O, Billuart P, Stuhlmann T, Shaw M, Corbett MA, Gardner A, Willis-Owen S, Tan C, Friend KL, Belet S, van Roozendaal KE, Jimenez-Pocquet M, Moizard MP, Ronce N, Sun R, O'Keeffe S, Chenna R, van Bömmel A, Göke J, Hackett A, Field M, Christie L, Boyle J, Haan E, Nelson J, Turner G, Baynam G, Gillessen-Kaesbach G, Müller U, Steinberger D, Budny B, Badura-Stronka M, Latos-Bieleńska A, Ousager LB, Wieacker P, Rodríguez Criado G, Bondeson ML, Annerén G, Dufke A, Cohen M, Van Maldergem L, Vincent-Delorme C, Echenne B, Simon-Bouy B, Kleefstra T, Willemsen M, Fryns JP, Devriendt K, Ullmann R, Vingron M, Wrogemann K, Wienker TF, Tzschach A, van Bokhoven H, Gecz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM. Molecular Psychiatry 2015 Feb 3. doi: 10.1038/mp.2014.193. [Epub ahead of print]


Kumar R, Corbett MA, Smith NJ, Jolly LA, Tan C, Keating DJ, Duffield MD, Utsumi T, Moriya K, Smith KR, Hoischen A, Abbott K, Harbord MG, Compton AG, Woenig JA, Arts P, Kwint M, Wieskamp N, Gijsen S, Veltman JA, Bahlo M, Gleeson JG, Haan E, Gecz J. Human Molecular Genetics, 24(7):2000-10, 2015.


Brookes E, Laurent B, Õunap K, Carroll R, Moeschler JB, Field M, Schwartz CE, Gecz J and Shi Y. Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity. Human Molecular Genetics, 24(10):2861-72, 2015.


van Bon BWM, Coe BP, Bernier R, Green C, Gerdts J, Witherspoon K, Kleefstra T, Willemsen MH, Kumar R, Bosco P, Fichera M, Li D, Amaral D, Cristofoli F, Peeters H, Haan E, Romano C, Mefford H, Scheffer IE, Gecz J, de Vries BBA, andEichler EE. Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.  Molecular Psychiatry, 2015 Feb 24. doi: 10.1038/mp.2015.5. [Epub ahead of print].


Paemka P, Mahajan VB, Ehaideb SN, Skeie JM, Tan MC, Wu S, Cox AJ, Sowers LP, Gecz J, Jolly L, Ferguson PJ, Darbro B, Schneider A, Scheffer IE, Carvill GL, Mefford HC, El-Shanti H, Wood S,  Manak JR, Bassuk AG. Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase. Plos Genetics, 11(3):e1005022, 2015.


         Haines B, Hughes J, Corbett M, Shaw M, Innes J, Patel L, Gecz J, Clayton-Smith J, Thomas P. 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):E815-20, 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 Gecz J. HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain. Human Molecular Genetics, 2015 Mar 3. pii: ddv083. [Epub ahead of print].


        Palmer EE, Leffler M, Rogers C, Shaw M, Carroll R, Earl J, Cheung NW, Champion B, Hu H, Haas SA, Kalscheuer VM, Gecz J, Field M. "New insights into Brunner syndrome and potential for targeted therapy". Clinical Genetics 2015 Mar 23. doi: 10.1111/cge.12589. [Epub ahead of print].

Shaw M, Yap TY, Henden L, Bahlo M, Gardner A, Kalscheuer VM, Haan E, Christie L, Hackett A, Gecz J. Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome. European Journal of Medical Genetics 2015 Apr 28. pii: S1769-7212(15)00077-4. doi: 10.1016/j.ejmg.2015.04.004. [Epub ahead of print]

Publications and citation metrics as listed on Google Scholar


Invited Reviews (2009-Present)

Raymond FL, Whibley A, Stratton MR, Gecz J. Lessons learnt from large-scale exon re-sequencing of the X chromosome. Human Molecular Genetics 18(R1):R60-4, 2009.

Gécz J, Shoubridge C, Corbett M. The genetic landscape of intellectual disability arising from chromosome X. Trends in Genetics 25(7):308-16, 2009.

Scheffer IE, Zhang YH, Gecz J, Dibbens L. Genetics of the epilepsies: genetic twists in the channels and other tales. Epilepsia, 51 Suppl 1:33-36, 2010.

Shoubridge C, Fullston T, Gécz J. ARX spectrum disorders: making inroads into the molecular pathology. Human Mutation, 31(8):889-900, 2010.

Shoubridge C, Walikonis RS, Gecz J, Harvey RJ. 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, 2010.

Corbett M, Gecz J. Great expectations:  Using massively parallel sequencing to solve inherited disorders. Expert Reviews in Molecular Diagnostics, 10(7):833-6, 2010.

Gécz J. Glutamate receptors and learning and memory. Nature Genetics, 42(11):925-6, 2010.

Gecz J, Haan E. New mutations and sporadic intellectual disability. Lancet, 380(9854):1630-1, 2012.

Shoubridge C and Gecz J.  Polyalanine tract disorders and neurocognitive phenotypes. Advances in Experimental Medicine and Biology, 769, 185, 2012.

Nguyen LS, Wilkinson M, Gecz J. The extent and relevance of inter-individual variability in NMD efficiency. Neuroscience & Biobehavioral Reviews, pii: S0149-7634(13)00270-4, 2013.

Berkovic SF, Gecz J.  Phenotype-genotype complexities: opening DOORS. Lancet Neurol. 13(1):24-5, 2014.

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


Murtaza M, Jolly LA, Gecz J and Wood SA. La FAM fatale: USP9X in development and disease. Cellular and Molecular Life Sciences 72(11):2075-89, 2015.


Invited Chapters (2009-Present)

Gécz J and Savarirayan R. Spondyloepiphyseal Dysplasia Tarda.  In: Encyclopedic Reference of Molecular Mechanisms of Disease.  Editor: Florian Lang.  2009. 

Crawford J, Partington M., Lower K, Gécz J. Börjeson-Forssman-Lehmannn syndrome. In: Genetics of Obesity Syndromes. Eds. S O'Rahilly, S Farooqi and P Beales, Oxford University Press, 2009.

Laumonnier F, Nguyen LS, Jolly, L, Raynaud M, Gecz J. The role of the UPF3B gene and nonsense-mediated mRNA decay in Autism Spectrum Disorders. The Comprehensive Guide to Autism. Book Chapter (Springer), in press, 2013.

Corbett M, Hunter M, Gecz J. Börjeson-Forssman-Lehmann syndrome and PHF6. “Epstein’s Inborn Errors of Development: the molecular basis of clinical disorders of morphogenesis” (IED), Oxford University Press, New York. 3rd edition.

Shoubridge C, Field M, Levelneter RJ, Gecz J. Developmental abnormalities due to mutations in the Aristaless-related homeobox gene.  “Epstein’s Inborn Errors of Development: the molecular basis of clinical disorders of morphogenesis” (IED), Oxford University Press, New York. 3rd edition.

Mattiske TR, Tan MH, Gecz J, Shoubridge C. Challenges of “Sticky” Co-immunoprecipitation: Polyalanine Tract Protein–Protein Interactions. Daniel M. Hatters and Anthony J. Hannan (eds.), Tandem Repeats in Genes, Proteins, and Disease: Methods and Protocols, Methods in Molecular Biology, vol. 1017, DOI 10.1007/978-1-62703-438-8_9, © Springer Science+Business Media New York 2013.

Tan MH, Gecz J, Shoubridge C. PCR Amplification and Sequence Analysis of GC-Rich Sequences: Aristaless-Related Homeobox Example. Daniel M. Hatters and Anthony J. Hannan (eds.), Tandem Repeats in Genes, Proteins, and Disease: Methods and Protocols, Methods in Molecular Biology, vol. 1017, DOI 10.1007/978-1-62703-438-8_9, © Springer Science+Business Media New York 2013.


Professional Associations

Australian Society for Biochemistry and Molecular Biology (ASBMB)
Australian Neuroscience Society (ANS)
Royal College of Pathologists of Australasia (RCPA)
National Association of Research Fellows (NARF)
Australian Society for Medical Research (ASMR)
American Society of Human Genetics (ASHG)
European Society of Human Genetics (ESHG)
Molecular Genetics Society of Australasia (MGSA)
Human Genetics Society of Australasia (HGSA)
Human Genome Organisation (HUGO)

Entry last updated: Tuesday, 12 Apr 2016

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