Women's and Children's Hospital, Adelaide
Neurogenetics Research Program

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:

Main projects

  1. Neurobiology of epilepsy (Supported by NHMRC Program grant, 2011-2015.).
  2. Identification of genes for X-linked intellectual disability (Supported by NHMRC Project grant, 2011-2013.).
  3. Understanding the role of UPF3B and NMD in the pathology of intellectual disability (Supported by philanthropic funds.).
  4. 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.).
  5. A mouse model for Borjeson-Forssman-Lehmann syndrome (Supported by Channel 7 Research and the WCH foundation – M. Corbett.).
  6. Investigating the Cell and Molecular Neurobiology of USP9X (Supported by WCH Foundation – L. Jolly.).

Key personnel

Research staff

Professor Jozef Gécz, PhD
Laboratory Head
Phone (08) 8161 6339
E-mail jozef.gecz@adelaide.edu.au

Dr. Cheryl Shoubridge
MS McLeod Postdoctoral Research Fellow
Email cheryl.shoubridge@adelaide.edu.au
Head - Molecular Neurogenetics

Dr. Mark Corbett
Postdoctoral Fellow
Email mark.corbett@adelaide.edu.au

Dr Lachlan Jolly
Postdoctoral Fellow
Email lachlan.jolly@adelaide.edu.au

Dr Raman Sharma
Postdoctoral Fellow
Email raman.sharma@adelaide.edu.au

Evelyn Douglas
Medical Scientist
Email evelyn.douglas@health.sa.gov.au

Alison Gardner
Research Assistant
Email alison.gardner@adelaide.edu.au

Lynne Hobson
Research Assistant
Email lynne.hobson@adelaide.edu.au

Marie Shaw
Research Assistant
Email marie.shaw@adelaide.edu.au

Josh Woenig
Research Assistant
Email joshua.woenig@student.adelaide.edu.au

Chloe Shard
Research Assistant
Email chloe.shard@gmail.com

Renee Carroll
Research Assistant
Email renee.carroll@adelaide.edu.au

Postgraduate Students

Sonny Nguyen - "Understanding the role of UPF3B and nonsense-mediated mRNA decay surveillance in pathology of intellectual disability"
Email lam.nguyen@student.adelaide.edu.au

Stanley Tan - 'Understanding the role of PCDH19 in pathology of epilepsy & intellectual disability.'
Email chuan.tan@adelaide.edu.au

Claire Homan: “Neurobiology of PCDH19 spectrum disorder”
Email claire.homan@adelaide.edu.au

Gai McMichael: “The genetic determinants of Cerebral Palsy”
Email: gai.mcmichael@adelaide.edu.au

Honours Students

Lloyd Weir
Email lloyd.weir@student.adelaide.edu.au

Contact Information

Unit Head

Professor Jozef Gécz, PhD
Laboratory Head
Phone (08) 8161 6339
E-mail jozef.gecz@adelaide.edu.au


Neurogenetics Laboratory
SA Pathology
9th Floor, Rieger Building
Women's and Children's Hospital
72 King William Road
North Adelaide
South Australia

Mailing Address

Neurogenetics Laboratory
SA Pathology
Women's and Children's Hospital
9th Floor Rieger Building,
72 King William Road
North Adelaide
South Australia 5006


Ph (08) 8161 6339

Fax (08) 8161 7342

Email jozef.gecz@adelaide.edu.au

Selected recent publications – for full list please refer to PubMed


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? Eur J Hum Genet. doi: 10.1038/ejhg.2012.61, 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. Eur J Hum Genet. doi: 10.1038/ejhg.2012.9, 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 MA, Gécz J, Thomas PQ, Mulley JC, Berkovic SF, Scheffer IE, Dibbens LM. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet. 90(1):152-60, 2012

Shoubridge C, Tan MH, Seiboth G, Gécz J. ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression. Hum Mol Genet. 21(7):1639-47, 2012

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. Mol Psychiatry. 17(1):4-7. doi: 10.1038/mp.2011.95, 2012

Nguyen LS, Jolly L, Shoubridge C, Chan WK, Huang L, Laumonnier F, Raynaud M, Hackett A, Field M, Rodriguez J, Srivastava AK, Lee Y, Long R, Addington AM, Rapoport JL, Suren S, Hahn CN, Gamble J, Wilkinson MF, Corbett MA, Gecz J. Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability. Mol Psychiatry. doi:  10.1038/mp.2011.163, 2012


Bruno IG, Karam R, Huang L, Bhardwaj A, Lou CH, Shum EY, Song HW, Corbett MA, 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

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

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*. 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).

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):204-14, 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, Apr 15. doi: 10.1111/j.1399-0004.2011.01685.x. [Epub ahead of print], 2011.


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.

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

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, 15;2(49):49ra68, 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):338-42, 2010.

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.

Shoubridge C, Tan MH, Fullston T, Cloosterman D, Coman D, McGillivray G, Mancini GM, Kleefstra T and Gécz J. Mutations in the nuclear localisation 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, 2010 3(1):1-15

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.


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 post-transcriptional regulatory switch that maintains RNA surveillance.  Nature Structural and Molecular Biology 16(7):747-53, 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, 2009 May;41(5):535-43.

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 non-specific mental retardation with or without autism. Molecular Psychiatry, 2009 Feb 24. [Epub ahead of print]

Prior to 2009

Dibbens LM, Tarpey PS, Hynes K, Bayly MA, Scheffer IE, Smith R, Bomar J, Sutton E, Vandeleur L, Shoubridge C, Edkins S, Turner SJ, Stevens C, O’Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Jones D, Lee R, Madison M, Mironenko T, Varian J, West S, Widaa S, Wray P, Teague J, Dicks E, Butler A, Menzies A, Jenkinson A, Sheperd R, Gusella JF, Afawi Z, Mazarib A, Neufeld MY, Kivity S, Lev D, Lerman-Sagie T, Korczyn AD, Derry CP, Sutherland GR, Friend K, Shaw M, Corbett M, Hyong-Goo K, Geschwind D H, Thomas P, Haan E, Ryan S, McKee S, Berkovic SF,  Futreal PA, Stratton MR, Mulley JC, Gécz J. (2008). Protocadherin 19 mutations cause sex-limited epilepsy and cognitive impairment. Nature Genetics 40(6):776-81, 2008.

Turner G, Boyle J, Partington M, Kerr B, Raymond L, Gécz J and Members of the GOLD teams. Restoring reproductive confidence in families with X-linked mental retardation. Clinical Genetics, 73(2):188-90, 2008.

Tarpey PS, Raymond FL, Nguyen LS, Rodriguez J, Hackett A, Vandeleur L, Smith R, Shoubridge C, Edkins S, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Hills K, Jones D, Mironenko T, Perry J, Varian J, West S, Widaa S, Teague J, Dicks E, Butler A, Menzies A, Richardson D, Jenkinson A, Shepherd R, Raine K, Moon J, Luo Y, Parnau J, Bhat SS, Gardner A, Corbett M, Brooks D, Thomas P, Parkinson-Lawrence E, Porteous ME, Warner JP, Sanderson T, Pearson P, Simensen RJ, Skinner C, Hoganson G, Superneau D, Wooster R, Bobrow M, Turner G, Stevenson RE, Schwartz CE, Futreal PA, Srivastava AK, Stratton MR, Gécz J. Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. Nature Genetics 39(9):1127-1133, 2007.

Froyen G, Corbett M, Vandewalle J, Jarvela I, Lawrence O, Meldrum C, Bauters M, Govaerts K, Vandeleur L, Van Esch H, Chelly J, Sanlaville D, van Bokhoven H, Ropers HH, Laumonnier F, Ranieri E, Schwartz CE, Abidi F, Tarpey PS, Futreal PA, Whibley A, Raymond FL, Stratton MR, Fryns JP, Scott R, Peippo M, Sipponen M, Partington M, Mowat D, Field M, Hackett A, Marynen P, Turner G, Gécz J, Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. American Journal of Human Genetics 82(2):432-43, 2008.

Scheffer IE, Turner SJ, Dibbens LM, Bayly MA, Friend K, Hodgson B, Burrows L, Shaw M, Wei C, Ullmann R, Ropers HH, Szepetowski P, Haan E, Mazarib A, Afawi Z, Neufeld MY, Andrews PI, Wallace G, Kivity S, Lev D, Lerman-Sagie T, Derry CP, Korczyn AD, Gécz J, Mulley JC, Berkovic SF. Epilepsy and mental retardation limited to females: an under-recognized disorder. Brain 131(Pt 4):918-27, 2008.

Strømme P, Mangelsdorf ME, Shaw MA, Lower KM, Lewis SM, Bruyere H, Lutcherath V, Gedeon AK, Wallace RH, Scheffer IE, Turner G, Partington M, Frints SG, Fryns JP, Sutherland GR, Mulley JC, Gécz J Mutations of the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nature Genetics 30: 441-445, 2002.

Lower KM, Turner G, Kerr BA, Mathews KD, Shaw MA, Gedeon AK, Schelley S, Hoyme HE, White SM, Delatycki MB, Lampe AK, Clayton-Smith J, Stewart H, van Ravenswaay CM, de Vries BB, Cox B, Grompe M, Ross S, Thomas P, Mulley JC, Gécz J. Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome. Nature Genetics, 32(4):661-5, 2002.

Merienne K, Jacquot S, Pannetier S, Zeniou M, Bankier A, Gecz J, Mandel JL, Mulley J, Sassone-Corsi P, Hanauer A. A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation. Nature Genetics, 22(1):13-4, 1999.

Gécz J, Gedeon AG, Sutherland GR, Mulley JC Identification of FMR2 : A gene associated with FRAXE mental retardation. Nature Genetics 13:105-108, 1996.

Villard L, Gecz J, Mattéi JF, Fontés M, Saugier-Veber P, Munnich A, Lyonnet S. XNP mutation in a large family with Juberg-Marsidi syndrome. Nature Genetics, 12(4):359-60. 1996.

Invited reviews

Gécz J and Mulley, JC Genes for cognitive function: Developments on the X. Genome research 10:157-163, 2000.

Gécz J The FMR2 gene, FRAXE and non-specific X-linked mental retardation: clinical and molecular aspects. Annals of Human Genetics 64(2):95-106, 2000.

Lower K, Mangelsdorf M, Gécz J Molecular genetics of mental retardation: A complex picture emerging. Expert Reviews in Molecular Diagnostics 1(2):89-94, 2001.

Marshall Graves JA, Gécz J and Hameister H Evolution of the human X - a smart and sexy chromosome that controls speciation and development . Cytogenetics and Genome Research 99(1-4):141-5, 2002.

Savarirayan R, Thompson E and Gécz J Spondylo-epiphyseal dysplasia tarda (SEDL, MIM #313400). European Journal of Human Genetics 11(9):639-42, 2003.

Gécz J Sutherland GR. Preface. Cytogenetics and Genome Research 100(1-4):5-6, 2003.

Gécz J The molecular basis of intellectual disability: novel genes with naturally occurring mutations causing altered gene expression in the brain. Frontiers in Bioscience Jan 1;9:1-7, 2004.

Gécz, J, Cloosterman, D. and Partington, M. ARX, a gene for all seasons. Current Opinion in Genetics and Development 16(3):308-316, 2006.

Gécz J, Turner G, Nelson J, Partington M. The Borjeson-Forssman-Lehman syndrome (BFLS, MIM #301900). European Journal of Human Genetics 14(12):1233-1237, 2006.

Chiurazzi P, Schwartz CE, Gecz J, Neri G. XLMR genes: update 2007. European Journal of Human Genetics 16(4):422-34, 2008.

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, 1-6, 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.

Invited chapters

Shoubridge C and Gecz J. Polyalanine tract disorders and likely pathogenic mechanisms. In: Tandem repeats in genetics of brain function and disease (AJ Hannan, Ed) Landes Biosciences 2011

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

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

Sutherland GR, Gécz J, Mulley JC. Fragile X syndrome and other X-linked causes of mental handicap. In: Rimoin DL, Connor JM, Pyeritz RE, Korf BR, eds. Emory and Rimoin's principles and practice of medical genetics. (5th edition) Churchill & Livingstone, 2007.

Gécz J and Savarirayan R Spondyloepiphyseal Dysplasia Tarda. In: Florian Lang (ed): Encyclopedic Reference of Molecular Mechanisms of Disease, 2004.

Gécz J and Fish G FRAXE fragile site associated non-specific mental retardation and the FMR2 gene. In: Genetics of Neurobehavioral Disorders. Ed. G. Fish. Humana Press. 2003, p289-306.

Sutherland GR, Gécz J, and Mulley JC Fragile X Syndrome and Other Causes of X-linked Mental Handicap. In: Emery & Rimoin's Principles and Practice of Medical Genetics (4th edition). Churchill Livingstone, 2002.

Gécz J and Gedeon AK SEDL. In: Creighton, T.E (Ed.) Encyclopedia of Molecular Medicine. Willey, 5 Vol. Pp.2875-2876, 2002.


Euro MRX Consortium

XLMR Update at Greenwood, SC USA

XLMR Update at Rome, Italy


We have a range of national and international collaborators who contribute significantly to our research projects. Among these are:

Prof. Gill Turner, Dr. Michael Partington, Dr. Anna Hackett and Dr. Mike Field, GOLD Newcastle, Australia

Prof. John Christodoulou, Sydney, Australia

A/Prof. Jamie Craig, Adelaide, Australia

Drs. Anne Voss and Tim Thomas, Melbourne, Australia

Prof. Hilger Ropers and his group, Berlin, Germany

Dr. Laurent Villard, Marseille, France

Dr. Lucy Raymond, Cambridge, UK

Dr. Charles Schwartz, Greenwood, USA

Dr. Dan Geschwind, UCSC Los Angels, USA

Prof. Miles Wilkinson, UCSD San Diego, USA

Dr. Barbara Bardoni, Nice, France

This is a research laboratory, which is currently funded predominantly by Australian NH&MRC. Grants include NH&MRC Program Grant (1x), NH&MRC Project grant (1x) and NH&MRC Fellowship (1x).

Other current funding bodies:

CAN (Cure Autism Now Foundation), USA

WCH Foundation, Channel 7 Foundation, SMILE Foundation, eResearchSA


last modified: 23 Mar 2016