Professor Jozef Gecz

Head Neurogenetics
Professor Jozef Gecz
  Org Unit Adelaide Medical School
  Email jozef.gecz@adelaide.edu.au
  Telephone +61 8 8313 2453
  Location Floor/Room WS8068.01 ,  AHMS ,   North Terrace

Website:

http://www.adelaide.edu.au/robinson-research-institute/researchers/group-leaders/gecz/

 

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, 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) as

of October 2015.

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

2017    Fellow of the Australian Academy of Science, March 27, 2017.

2017    Healthy Development Adelaide Award, for achieving excellence in research

contributing to healthy development. Adelaide, Australia, September 20, 2017.

 

 

Current Appointments:

• Professor of Human Genetics: The University of Adelaide, Adelaide Medical School, The University of Adelaide, Adelaide, Australia
• NH&MRC Senior Principal Research Fellow: The University of Adelaide, Adelaide, Australia
• Chair for the Prevention of Childhood Disability, Channel 7 Children's Research Foundation, SAHMRI, Robinson Research Institute, The University of Adelaide

 

Neurogenetics Research Group:

Mark Corbett, PhD: Cerebral Palsy Alliance Research Fellow
Lachlan Jolly, PhD: ARC DECRA
Raman Sharma, PhD: Post Doctoral Research Fellow
Duyen Pham, PhD: Post Doctoral Research Fellow

Atma Ivancevic, PhD: Post Doctoral Research Fellow

Sarah Heron, PhD: NHMRC CDA Fellow

Thuong Ha, PhD student

Debrah Renders, PhD Student

Deepti Domingo, PhD student

Kristy Kolc, PhD student

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

Renee Schulz, BSc (Hons): Research Assistant

Brett Johnson, BSc (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

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.).

 

Our work is funded by:


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

(i)   Scholarly Book Chapters (16x)

 

1.      Sadleir LG, Gecz J, Scheffer IS. Epilepsy that occurs predominantly in girls. In: Neurobiology of Disease. Editors MV Johnston, HP Adams and A Fatemi.  Oxford University Press. p.307-311, 2016.

 

2.      Pham D, Tan C, Homan C, Jolly L, Gécz J. Protocadherin mutations in neurodevelopmental disorders. In: Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability. Editors C Sala and C Verpelli. Elsevier, 2016.

 

3.      Shoubridge C, Field M, Leventer RJ, Gécz J. Developmental abnormalities due to mutations in the Aristaless-related homeobox gene. In: Epstein’s Inborn Errors of Development: the molecular basis of clinical disorders of morphogenesis (IED), Oxford University Press, New York. 3rd edition, p.761-767, 2016

 

4.      Corbett M, Hunter M, Gécz J. Börjeson-Forssman-Lehmann syndrome and PHF6. In: Epstein’s Inborn Errors of Development: the molecular basis of clinical disorders of morphogenesis (IED), Oxford University Press, New York. 3rd edition, p.935-941, 2016.

 

5.      Tan MH, Gécz 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.

 

6.      Mattiske TR, Tan MH, Gécz 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.

 

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

 

8.      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.

 

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

 

10.   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. Emery & Rimoin’s Principles and Practice of Medical Genetics. (5th edition) Churchill & Livingstone, 2007.

 

11.   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.

 

12.   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.

 

13.   Gécz J and Gedeon AK. SEDL. In: Creighton, T.E (Ed.) Encyclopedia of Molecular Medicine. Willey, 2002.

 

14.   Gécz J, Villard L, Lossi AM, Fontes M.  Direct cDNA selection using human and mouse cDNAs: Application to the Xq13.3 chromosomal region. In: Hochgeschwender, U. and Gardiner, K. (Eds.): Identification of transcribed sequences: Plenum Press, New York, 1994.

 

15.   Gécz J, Ondrejcak M, Feark V. An attempt to diagnose fetal sex from maternal blood. In: Macek, M., Fergusson-Smith, M.A., Spala, V. (Eds): Early fetal diagnosis, recent progress and public health impact: Karolinum Charles University Press, Prague, 1990.

 

16.   Gécz J, Kadasi L, Ondrejcak M, Feark V. First prenatal diagnosis of CF by means of PCR in Slovakia. In: Macek, M., Fergusson-Smith, M.A., Spala, V. (Eds): Early fetal diagnosis, recent progress and public health impact: Karolinum Charles University Press, Prague, 1990.

 

 

       Refereed Journal Articles (251)

 

1.    Geisheker MR, Heymann G, Wang T, Coe BP, Turner TN, Stessman HAF, Hoekzema K, Kvarnung M, Shaw M, Friend K, Liebelt J, Barnett C, Thompson EM, Haan E, Guo H, Anderlid BM, Nordgren A, Lindstrand A, Vandeweyer G, Alberti A, Avola E, Vinci M, Giusto S, Pramparo T, Pierce K, Nalabolu S, Michaelson JJ, Sedlacek Z, Santen GWE, Peeters H, Hakonarson H, Courchesne E, Romano C, Kooy RF, Bernier RA, Nordenskjöld M, Gecz J, Xia K, Zweifel LS, Eichler EE.. Hotspots of missense mutation identify novel neurodevelopmental disorder genes and functional domains. Nature Neuroscience, 20(8):1043-1051, 2017.

 

2.    Corbett MA, Turner SJ, Gardner A, Silver J, Stankovich J, Leventer RJ, Derry CP, Carroll R, Ha T, Scheffer IE, Bahlo M, Jackson GD, Mackey DA, Berkovic SF, Gecz J. Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations. European Journal of Medical Genetics,60(8):437-443, 2017.

 

3.    Ga Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM, Morton J, Nicholl J, Andrieux J, Stray-Pedersen A, Chambon P, Patrier S, Lynch SA, Kjaergaard S, Tørring PM, Brasch-Andersen C, Ronan A, van Haeringen A, Anderson PJ, Powis Z, Brunner HG, Pfundt R, Schuurs-Hoeijmakers JHM, van Bon BWM, Lelieveld S, Gilissen C, Nillesen WM, Vissers LELM, Gecz J, Koolen DA, Testa G, de Vries BBA.. YY1 haploinsufficiency causes a novel intellectual disability syndrome with transcriptional and chromatin dysfunction. American Journal of Human Genetics, 100(6):907-925, 2017.

 

4.    Carroll R, Kumar R, Sha M, Gardner A, Kalscheuer VK, Corbett MC, Gecz J. Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction. European Journal of Human Genetics 25(9):1078-1082, 2017.

 

5.    Trivisano M, Lucchi C, Rustichelli C, Terracciano A, Cusmai R, Ubertini GM, Giannone G, Bertini ES, Vigevano F, Gecz J, Biagini G, Specchio N.  Reduced steroidogenesis in patients with PCDH19-female limited epilepsy. Epilepsia 58(6):e91-e952017, 2017.

 

6.    Donnio LM, Bidon B, Hashimoto S, May M, Epantchintsev A, Ryan C, Allen W, Hackett A, Gecz J, Skinner C, Stevenson RE, de Brouwer AP, Coutton C, Francannet C, Jouk PS, Schwartz CE, Egly JM.MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression. Human Molecular Genetics 26(11):2062-2075, 2017.

 

7.    Vaidyanathan K, Niranjan T, Selvan N, Teo CF, May M, Patel S, Weatherly S, Skinner C, Opitz J, Carey J, Viskochil D, Gecz J, Shaw M, Peng Y, Alexov E, Wang T, Schwartz C, and Wells L. Identification and Characterization of a Missense Mutation in the O-GlcNAc Transferase Gene that Segregates with X-Linked Intellectual Disability. Journal of Biological Chemistry, 292(21):8948-8963, 2017.

 

8.    Pham DH, Tan C, Claire Homan C, Kolc K, Corbett M, McAninch D, Fox A, Thomas PQ, Kumar R, Gecz J. Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERα). Human Molecular Genetics, 6(11):2042-2052, 2017.

 

9.    Bridges CR, Tan MC, Premarathne S, Nanayakkara D, Bellette B, Zencak D, Domingo D, Gecz J, Murtaza M, Jolly LA, and Wood SA. USP9X deubiquitylating enzyme maintains RAPTOR protein levels, mTORC1 signalling and proliferation in neural progenitors. Scientific Reports, 7(1):391, 2017.

 

10.  Stessman HAF, Xiong B, Coe BP, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner TN, Santen G, Ruivenkamp C, Kriek M, van Haeringen A, Aten E, Friend K, Liebelt J, Barnett C, Haan E, Shaw M, Gecz J, Anderlid B-M, Nordgren A, Lindstrand A, Schwartz C, Kooy RF, Vandeweyer G, Helsmoortel C, Romano C, Alberti A, Vinci M, Avola E, Giusto S, Courchesne E, Pramparo T, Pierce K, Nalabolu S, Amaral D, Scheffer IE, Delatycki MB, Lockhart PJ, Hormozdiari F, Harich B, Castells-Nobau A, Xia K, Peeters H, Nordenskjöld M, Schenck A, Bernier RA, Eichler EE. Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental disability biases. Nature Genetics, 49(4):515-526, 2017.

 

11.  Fahey MC, MacLennan AH, Kretzschmar D, Gecz J, Kruer MC. The genetic basis of cerebral palsy. Developmental Medicine & Child Neurology, 59(5):462-469, 2017.

 

12.  Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, Hewitt J, Lambeth L, Bouty A, Knarston IM, Tan TY, Cameron F, Werther G, Hutson J, O'Connell M, Grover SR, Heloury Y, Zacharin M, Bergman P, Kimber C, Brown J, Webb N, Hunter MF, Srinivasan S, Titmuss A, Verge CF, Mowat D, Smith G, Smith J, Ewans L, Shalhoub C, Crock P, Cowell C, Leong GM, Ono M, Lafferty AR, Huynh T, Visser U, Choong CS, McKenzie F, Pachter N, Thompson EM, Couper J, Baxendale A, Gecz J, Wheeler BJ, Jefferies C, MacKenzie K, Hofman P, Carter P, King RI, Krausz C, van Ravenswaaij-Arts CM, Looijenga L, Drop S, Riedl S, Cools M, Dawson A, Juniarto AZ, Khadilkar V, Khadilkar A, Bhatia V, Dũng VC, Atta I, Raza J, Thi Diem Chi N, Hao TK, Harley V, Koopman P, Warne G, Faradz S, Oshlack A, Ayers KL, Sinclair AH. Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort. Genome Biology, 17(1):243, 2016.

 

13.   Mattiske T, Lee K, Gecz J, Friocourt G, Shoubridge C Embryonic forebrain transcriptome of mice with polyalanine expansion mutations in the Arx homeobox gene. Human Molecular Genetics,25(24):5433-5443, 2016.

 

14.   Rigbye KA, van Hasselt PM, Burgess R, Damiano JA, Mullen SA, Petrovski S, Puranam RS, van Gassen KL, Gecz J, Scheffer IE, McNamara JO, Berkovic SF, Hildebrand MS. Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus? Epilepsy Research 128:48-51, 2016.

 

15.   Zhu F, Wang F, Yang X, Zhang J, Wu H, Zhang Z, Zhang ZZ, He X, Zhou P, Wei Z, Gécz J, Cao Y. Biallelic SUN5 Mutations in Infertile Men with Autosomal-Recessive Acephalic Spermatozoa Syndrome. American Journal of Human Genetics, 99(4):942-949, 2016.

 

16.   Afawi Z, Oliver KL, Kivity S, Mazarib A, Blatt I, Neufeld MY, Helbig KL, Goldberg-Stern H, Misk AJ, Straussberg R, Walid S, Mahajnah M, Lerman-Sagie T, Ben-Zeev B, Kahana E, Masalha R, Kramer U, Ekstein D, Shorer Z, Wallace RH, Mangelsdorf M, MacPherson JN, Carvill GL, Mefford HC, Jackson GD, Scheffer IE, Bahlo M, Gécz J, Heron SE, Corbett M, Mulley JC, Dibbens LM, Korczyn AD, Berkovic SF. Multiplex families with epilepsy: Success of clinical and molecular genetic characterization. Neurology 86(8):713-22, 2016.

 

17.   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, 87(19):1975-1984, 2016.

 

18.   Palmer EE, Weinert S, Stuhlmann T, Haan E, Van Esch H, Holvoet M, Boyle J, Leffler M, Ryanaud M, Moraine C, van Bokhoven H, Kleefstra T, Kahrizi K, Najmabadi H, Ropers HH, Delgado MR, Sirisi D, Golla S, Sommer A, Pietryga MP, Chung WK, Wynn J, Rohena L, Bernardo E, Hamlin D, Faux BM, Grange DK, Manwaring L, Tolmie J, Joss S, DDD study, Cobben JM, Duikers FAM, Goehringer JM, Challman TD, Hennig F, Fitscher U, Grimme A, Suckow V, Musante L, Nicholl J, Shaw M, Lodh SP, Niu Z, Rosenfeld JA, Stankiewicz P, Jentsch TJ, Gécz J, Field M, Kalscheuer VM. De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. Molecular Psychiatry, 2016 Aug 23. doi: 10.1038/mp.2016.135. [Epub ahead of print].

 

19.   Reijnders MR, Zachariadis V, Latour B, Jolly L, Mancini GM, Pfundt R, Wu KM, van Ravenswaaij-Arts CM, Veenstra-Knol HE, Anderlid BM, Wood SA, Cheung SW, Barnicoat A, Probst F, Magoulas P, Brooks AS, Malmgren H, Harila-Saari A, Marcelis CM, Vreeburg M, Hobson E, Sutton VR, Stark Z, Vogt J, Cooper N, Lim JY, Price S, Lai AH, Domingo D, Reversade B; DDD Study., Gecz J, Gilissen C, Brunner HG, Kini U, Roepman R, Nordgren A, Kleefstra T. De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations. American Journbal of Human Genetics 98(2):373-81, 2016.

 

20.   Myers CT, McMahon JM, Schneider AL, Petrovski S, Allen AS, Carvill GL, Zemel M, Saykally JE, LaCroix AJ, Heinzen EL, Hollingsworth G, Nikanorova M, Corbett M, Gécz J, Coman D, Freeman J, Calvert S, Gill D, Carney P, Lerman-Sagie T, Sampaio H, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T, Johnson MR, Kuzniecky R, Marson AG, O'Brien TJ, Ottman R, Petrou S, Poduri A, Pickrell WO, Chung SK, Rees MI, Sherr E, Sadleir LG, Goldstein DB, Lowenstein DH, Møller RS, Berkovic SF, Scheffer IE, Mefford HC. De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies. American Journal of Human Genetics, 99(2):287-98, 2016.

 

21.   Smogavec M, Cleall A, Hoyer J, Lederer D, Nassogne MC, Palmer EE, Deprez M, Benoit V, Maystadt I, Noakes C, Leal A, Shaw M, Gécz J, Raymond L, Reis A, Shears D, Brockmann K, Zweier C. Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum. Journal of Medical Genetics 53(12):820-827, 2016.

 

22. Henden L, Freytag S, Afawi Z, Baldassari S, Berkovic SF, Bisulli F, Canafoglia L, Casari G, Crompton DE, Depienne C, Gécz J, Guerrini R, Helbig I, Hirsch E, Keren B, Klein KM, Labauge P, LeGuern E, Licchetta L, Mei D, Nava C, Pippucci T, Rudolf G, Scheffer IE, Striano P, Tinuper P, Zara F, Corbett M, Bahlo M.Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2. Human Genetics 135(10):1117-25, 2016.

 

23. Pederick D, Homan CC, Jaehne EJ, Piltz SG, Haines BP, Baune BT, Jolly LA, Hughes JN, Gécz J, Thomas PQ. Pcdh19 Loss-of-Function Increases Neuronal Migration In Vitro but is  Dispensable for Brain Development in Mice. Scientific Reports, 6:26765, 2016.

 

24. 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.

 

25. Hughes JN, Aubert M, Heatlie J, Gardner A, Gécz J, Morgan T, Belsky J, Thomas PQ. Identification of an IGSF1-specific deletion in a five generation pedigree with X-linked Central Hypothyroidism without macroorchidism. Clinical Endocrinology 85(4):609-15, 2016.

 

26. Balestrini S, Milh M, Castiglioni C, Lüthy K, Finelli MJ, Verstreken P, Cardon A, Stražišar BG, Holder JL Jr, Lesca G, Mancardi MM, Poulat AL, Repetto GM, Banka S, Bilo L, Birkeland LE, Bosch F, Brockmann K, Cross JH, Doummar D, Félix TM, Giuliano F, Hori M, Hüning I, Kayserili H, Kini U, Lees MM, Meenakshi G, Mewasingh L, Pagnamenta AT, Peluso S, Mey A, Rice GM, Rosenfeld JA, Taylor JC, Troester MM, Stanley CM, Ville D, Walkiewicz M, Falace A, Fassio A, Lemke JR, Biskup S, Tardif J, Ajeawung NF, Tolun A, Corbett M, Gécz J, Afawi Z, Howell KB, Oliver KL, Berkovic SF, Scheffer IE, de Falco FA, Oliver PL, Striano P, Zara F, Campeau PM, Sisodiya SM. TBC1D24 genotype-phenotype correlation: epilepsies and other neurological features. Neurology, 87(1):77-85, 2016.

 

27. Friez MJ, Brooks SS, Stevenson RE, Field M, Basehore MJ, Adès LC, Sebold C, McGee S, Saxon S, Skinner C, Craig ME, Murray L, Simensen RJ, Yap YY, Shaw MA, Gardner A, Corbett M, Kumar R, Bosshard M, van Loon B, Tarpey PS, Abidi F, Gécz J, Schwartz CE. HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study. BMJ Open 6(4):e009537, 2016.

 

28. Stessman HA, Willemsen MH, Fenckova M, Penn O, Hoischen A, Xiong B, Wang T, Hoekzema K, Vives L, Vogel I, Brunner HG, van der Burgt I, Ockeloen CW, Schuurs-Hoeijmakers JH, Klein Wassink-Ruiter JS, Stumpel C, Stevens SJ, Vles HS, Marcelis CM, van Bokhoven H, Cantagrel V, Colleaux L, Nicouleau M, Lyonnet S, Bernier RA, Gerdts J, Coe BP, Romano C, Alberti A, Grillo L, Scuderi C, Nordenskjöld M, Kvarnung M, Guo H, Xia K, Piton A, Gerard B, Genevieve D, Delobel B, Lehalle D, Perrin L, Prieur F, Thevenon J, Gécz J, Shaw M, Pfundt R, Keren B, Jacquette A, Schenck A, Eichler EE, Kleefstra T. Disruption of POGZ is associated with intellectual disability and autism spectrum disorders. American Journal of Human Genetics, 98(3):541-52, 2016.

 

29. Maclennan AH, Thompson SC, Gécz J. Reply to Dr Wei How Lim.

American Journal of Obstetrics and Gynecology 214(5):671, 2016.

 

30. Koolen DA, Pfundt R, Linda K, Beunders G, Veenstra-Knol HE, Conta JH, Fortuna AM, Gillessen-Kaesbach G, Dugan S, Halbach S, Abdul-Rahman OA, Winesett HM, Chung WK, Dalton M, Dimova PVP, Mattina T, Prescott K, Zhang HZ, Saal HM, Hehir-Kwa JY, Willemsen MH,. Ockeloen CW, Jongmans MC, Van der Aa N, FaillaP, Barone C, Avola E, Brooks AS, Kant SG, Gerkes EH, Firth HV, Õunap K, Bird L, Masser-Frye D, Friedman J, Sokunbi MA, Dixit A, Splitt M, DDD Study, Kukolich MK, McGaughran J, Coe BP, Flórez J, Kasri NN, Brunner HG, Thompson EM, Gécz J, Romano C, Eichler EE, de Vries BBA. The Koolen-de Vries syndrome: A phenotypic comparison of microdeletion and point mutation patients. European Journal of Human Genetics 24(5):652-9, 2016.

 

31. 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, Gécz J, de Vries BBA, andEichler EE. Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.  Molecular Psychiatry, 21(1):126-32, 2016.

 

32. 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, Gécz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM. Molecular Psychiatry 21(1):133-48, 2016.

 

33. Ha TT, Sadleir LG, Mandelstam SA, Paterson SJ, Scheffer IE, Gécz J, Corbett MA. A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts. American Journal of Medical Genetics A 170(4):1059-63, 2016.

 

34. Palmer EE, Leffler M, Rogers C, Shaw M, Carroll R, Earl J, Cheung NW, Champion B, Hu H, Haas SA, Kalscheuer VM, Gécz J, Field M. "New insights into Brunner syndrome and potential for targeted therapy". Clinical Genetics 89(1):120-7, 2016.

 

35. Moey C, Hinze SJ, Brueton L, Morton J, McMullan DJ, Kamien B, Barnett CP, Brunetti-Pierri N, Nicholl J, Gécz J, Shoubridge C. Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders. European Journal of Human Genetics 24(3):373-80, 2016.

 

36. 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.

 

37. Grozeva D, Carss K, Spasic-Boskovic O, Tejada MI, Gécz J, Shaw M, Corbett M, Haan E, Thompson E, Friend K, Hussain Z, Hackett A, Field M, Renieri A, Stevenson R, Schwartz C, Floyd JA, Bentham J, Cosgrove C, Keavney B, Bhattacharya S; Italian X-linked Mental Retardation Project; UK10K Consortium; GOLD Consortium, Hurles M, Raymond FL. Targeted Next Generation Sequencing Analysis of 1000 Individuals with Intellectual Disability. Human Mutation, 36(12):1197-1204, 2015.

 

38. 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. Journal of Clinical Endocrinology and Metabolism 100(5):E815-20, 2015.

 

39. Corbett MA, Dudding-Byth T, Crock PA, Botta E, Christie LM, Nardo T, Caligiuri G, Hobson L, Boyle J, Mansour A, Friend KL, Crawford J, Jackson G, Vandeleur L, Hackett A, Tarpey P, Stratton MR, Turner G, Gécz J, Field M. A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A. Journal of Medical Genetics 52(4):269-74, 2015.

 

40. Ishibashi M, Manning E, Shoubridge C, Krecsmarik M, Hawkins TA, Giacomotto J, Zhao T, Mueller T, Bader PI, Cheung SW, Stankiewicz P, Bain NL, Hackett A, Reddy CC, Mechaly AS, Peers B, Wilson SW, Lenhard B, Bally-Cuif L, Gécz J, Becker TS, Rinkwitz S. Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene. Human Genetics, 134(11-12):1163-1182, 2015.

 

41. 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.

 

42. 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.

 

43. Snijders Blok L, Madsen E, JuusolaJ, Gilissen C, Baralle D, Reijnders M, Venselaar Helsmoortel CH, Cho MT, Hoischen A, Vissers L, Koemans TS, Wissink-Lindhout W, Eichler EE, Romano C, Van Esch H, Stumpel C, Vreeburg M, Smeets E, Oberndorff K, van Bon BWM, Shaw M, Gécz J, Haan E, Bienek M, Jensen C, Loeys BL, Van Dijck A, A Innes AM, Racher H, Vermeer S, Di Donato N, Rump A, Tatton-Brown K, Parker MJ, Henderson A, Lynch SA, Fryer A, Ross A, Vasudevan P, Kini U, Newbury-Ecob R, Chandler K, the DDD study, Dijkstra S, Schieving J, Giltay J, van Gassen KLI, Schuurs-Hoeijmakers J, Tan PL, Pediaditakis I, Haas SA, Retterer K, Reed P, Monaghan KG, Haverfield E, Natowicz M, Myers A, Kruer MC, Stein Q, Strauss KA, Brigatti KW, Keating K, Burton BK, Kim KH, Charrow J, Norman J, Foster-Barber A, Kline AD, Kimball A, Zackai E, Harr M, Fox J, McLaughlin J, Lindstrom K, Haude KM, van Roozendaal K, Brunner H, Chung WK, Kooy, Pfundt RRF, Kalscheuer V, Mehta SG, Katsanis N and Kleefstra T. Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling. American Journal of Human Genetics 97(2):343-52, 2015.

 

44. 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.

 

45. Shaw M, Yap TY, Henden L, Bahlo M, Gardner A, Kalscheuer VM, Haan E, Christie L, Hackett A, Gécz J. Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome. European Journal of Medical Genetics 58(6-7):364-8, 2015.

 

46. 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.

 

47. Paemka P, Mahajan VB, Ehaideb SN, Skeie JM, Tan MC, Wu S, Cox AJ, Sowers LP, Gécz 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.

 

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

 

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

 

50. MacLennan AH, Thompson SC, Gécz J. Cerebral Palsy - Causes, pathways, and the role of genetic variants. American Journal of Obstetrics and Gynecology 213(6):779-88, 2015.

 

51. Brookes E, Laurent B, Õunap K, Carroll R, Moeschler JB, Field M, Schwartz CE, Gécz 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.

 

52. 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, Gécz J. Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder. Human Molecular Genetics, 24(7):2000-10, 2015.

 

53. 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.

 

54. 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, Gécz 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.

 

55. 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, Gécz 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.

 

56. 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.

 

57. 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.

 

58. 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, Gécz J, FitzPatrick DR, and Kooy RF. FRA2A is a CGG repeat expansion associated with silencing of AFF3. PLoS Genetics, 10(4):e1004242, 2014.

 

59. Scheffer I, Heron S, Regan B, Mandelstam S, Crompton D, Hodgson B, Licchetta L, Provini F, Bisulli F, Vadlamudi L, Gécz 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, 75(5):782-7, 2014.

 

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

 

61. Nguyen LS, Wilkinson M, Gécz J. Nonsense-mediated mRNA decay; inter-individual variability and human disease. Neuroscience & Biobehavioral Reviews, 175-186, 2014.

 

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

 

63.  Le Fevre AK, Taylor S, Malek NH, Horn D, Carr CW, Abdul-Rahman OA, O’Donnell S, Burgess T, Shaw M, Gécz 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.

 

64.  McMichael G, Haan E, Gardner A, Yap TY, Thompson S, Ouvrier R, Dale RC, Gécz 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.

 

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

 

66.  Jolly L, Homan C, Jacob R, Barry S, Gécz 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.

 

67.  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, Gécz 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.

 

68.  McMichael G, Girirajan S, Moreno-De-Luca A, Gécz 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.

 

69.  Melko M, Nguyen LS, Shaw M, Jolly L, Bardoni B, and Gécz 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.

 

70.  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, Gécz 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.

 

71.  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, Gécz 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.

 

72.  Afawi Z, Mandelstam S, Korczyn AD, Kivity S, Walid S, Shalata A, Oliver KL, Corbett M, Gécz 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.

 

73.  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, Gécz J, Dibbens LM, Berkovic SF. ‘North Sea’ progressive myoclonus epilepsy: Phenotype of subjects with GOSR2 mutation. Brain, 136(Pt 4):1146-54, 2013.

 

74.  Nguyen LS, Kim H-G, Rosenfeld JA, Shen Y, Gusella JF, Lacassie Y, Layman LC, Shaffer LG & Gécz 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.

 

75.  Poeta L, Fusco F, Drongitis D, Shoubridge C, Manganelli G, Filosa S, Paciolla M, Courtney M, Collombat P, Lioi MB, Gécz 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.

 

76.  Barnett CP, Mencel JJ, Gécz 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.

 

77.  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. Non-coding, regulatory mutation implicates chromatin-associated gene HCFC1 in non-syndromic intellectual disability. American Journal of Human Genetics, 91(4):694-702, 2012.

 

78.  Huang L, Poke G, Gécz 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.

 

79.  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, Gécz 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.

 

80.  Lynch SA, Nguyen LS, LG NY, Waldron M, McDonald D, Gécz 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.

 

81.  Shoubridge C, Gardner A, Schwartz CE, Hackett A, Field M, Gécz 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.

 

82.  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, Gécz 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.

 

83.  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.

 

84.  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.

 

85.  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.

 

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

 

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

 

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

 

89.  Bruno IG, Karam R, Huang L, Bhardwaj A, Chih. Lou H, Shum EY, Song HW, Corbett M, Gifford WD, Gécz 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.

 

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

 

91.  Melko M, Douguet D, Bensaid M, Zongaro S, Verheggen C, Gécz 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.

 

92.  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, Gécz 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).

 

93.  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, Gécz 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.

 

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

 

95.  Fullston T, Gabb B, Callen D, Ullmann R, Woollatt E, Bain S, Ropers HH, Cooper M, Chandler D, Carter K, Jablensky A, Kalaydjieva L, Gécz 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.

 

96.  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, Gécz 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.

 

97.  Hattersley K, Laurie KJ, Liebelt JE, Gécz 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.

 

98.  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, Gécz 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.

 

99.  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, Gécz 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.

 

100.  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, Gécz 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.

 

101.  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.

 

102.  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, Gécz 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.

 

103.  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, Gécz 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.

 

104.  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.

 

105.  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, Gécz 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.

 

106.  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, Gécz 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.

 

107.  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.

 

108.  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.

 

109.  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 Gécz, 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.

 

110.  Fullston T, Brueton L, Willis T, Philip S, Macpherson L, Finnis M, Gécz 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.

 

111.  Rujirabanjerd S, Nelson J, Tarpey PS, Hackett A, Edkins S, Raymond FL, Schwartz CE, Turner G, Iwase S, Shi Y, Futreal PA, Stratton MR, Gécz 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.

 

112.  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.

 

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

 

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

 

115.  Shoubridge C, Walikonis RS, Gécz 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.

 

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

 

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

 

118.  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.

 

119.  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.

 

120.  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.

 

121.  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.

 

122.  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, Gécz 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.

 

123.  Burdon KP, Durkin SR, Burke M, Edwards M, Pater J, Straga T, Gécz 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.

 

124.  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.

 

125.  Bensaid M, Melko M, Bechara EG, Davidovic L, Berretta A, Catania MV, Gécz 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.

 

126.  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, Gécz 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.

 

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

 

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

 

129.  Sharma S, Burdon KP, Dave A, Jamieson RV, Yaron Y, Billson F, Van Maldergem L, Lorenz B, Gécz J, Craig JE. Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform. Molecular Vision 14:1856-64, 2008.

 

130.  Peat RA, Gécz J, Fallon JR, Tarpey PS, Smith R, Futreal A, Stratton MR, Lamandé SR, Yang N, North KN. Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders. Neuromuscular Disorders 18(8):606-9, 2008.

 

131.  Craig JE, Friend KL, Gécz J, Rattray KM, Troski M, Mackey DA, Burdon KP. A novel locus for X-linked congenital cataract on Xq24. Molecular Vision 14:721-6, 2008.

 

132.  Jaeckle Santos LJ, Xing C, Barnes RB, Ades LC, Megarbane A, Vidal C, Xuereb A, Tarpey PS, Smith R, Khazab M, Shoubridge C, Partington M, Futreal A, Stratton MR, Gécz J, Zinn AR. Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes. Human Genetics 123(5):469-76, 2008.

 

133.  Frints SG, Lenzner S, Bauters M, Jensen LR, Van Esch H, des Portes V, Moog U, Macville MV, van Roozendaal K, Schrander-Stumpel CT, Tzschach A, Marynen P, Fryns JP, Hamel B, van Bokhoven H, Chelly J, Beldjord C, Turner G, Gécz J, Moraine C, Raynaud M, Ropers HH, Froyen G, Kuss AW. MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. Europen Journal of Human Genetics 16(9):1029-37, 2008.

 

134.  Molinari F, Foulquier F, Tarpey PS, Morelle W, Boissel S, Teague J, Edkins S,  Futreal PA, Stratton MR, Turner G, Matthijs G, Gécz J, Munnich A, Colleaux L. (2008) Oligosaccharyltransferase subunits mutations in non-syndromic mental retardation. American Journal of Human Genetics 82(5):1150-7, 2008.

 

135.  Gilfillan GD, Selmer KK, Roxrud I, Smith R, Kyllerman M, Eiklid K, Kroken M, Mattingsdal M, Egeland T, Stenmark H, Sjøholm H, Server A, Samuelsson L, Christianson A, Tarpey P, Whibley A, Stratton MR, Futreal PA, Teague J, Edkins S, Gécz J, Turner G, Raymond FL, Schwartz C, Stevenson RE, Undlien DE, Strømme P. SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome. American Journal of Human Genetics 82(4):1003-10, 2008.

 

136.  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 Protocadherin 19 mutations cause sex-limited epilepsy and cognitive impairment. Nature Genetics 40(6):776-81, 2008.

 

137.  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.

 

138.  G Froyen, M Corbett, J Vandewalle, I Jarvela, O Lawrence, C Meldrum, M Bauters, K Govaerts, L Vandeleur, H Van Esch, J Chelly, D Sanlaville, H van Bokhoven, HH Ropers, F Laumonnier, E Ranieri, CE Schwartz, F Abidi, PS Tarpey, PA Futreal, AC Whibley, FL Raymond, MR Stratton, JP Fryns, R Scott, M Peippo, M Sipponen, M Partington, D Mowat, M Field, A Hackett, P Marynen, G Turner, J Gécz 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.

 

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

 

140.  Butcher CM, Hahn U, To LB, Gécz J, Wilkins EJ, Scott HS, Bardy PG, D'Andrea RJ. Two novel JAK2 exon 12 mutations in JAK2V617F-negative polycythaemia vera patients. Leukemia, 22(4):870-3, 2008.

 

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

 

142.  Wu,Y, G Rumbaugh, AC Arai, AK Srivastava, J Gécz, G Turner, CE Schwartz, T Hayashi, E Suzuki, Y Jiang, L Zhang, P Tarpey, FL Raymond, J Nevelsteen, G Froyen, D Valle, R Huganir, T Wang. Mutations in Ionotropic AMPA Receptor 3 (GRIA3) Cause X-linked Mental Retardation. Proceedings of the National Academy of Sciences of the Unites States of America 104(46):18163-8, 2007.

 

143.  Kousoulidou L, Parkel S, Zilina O, Palta P, Puusepp H, Remm M, Turner G, Boyle J, van Bokhoven H, de Brouwer A, Van Esch H, Froyen G, Ropers HH, Chelly J, Moraine C, Gécz J, Kurg A, Patsalis PC. Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH. European Journal of Medical Genetics 50(6):399-410, 2007.

 

144.  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.

 

145.  Voss AK, Gamble R, Collin C, Shoubridge C, Corbett M, Gécz J, Thomas T. Protein and gene expression analysis of Phf6, the gene mutated in the Borjeson-Forssman-Lehmann Syndrome of intellectual disability and obesity. Gene Expression Patterns 7(8):858-871, 2007.

 

146.  Field M, Tarpey PS, Smith R, Edkins S, O'Meara S, Stevens C, Tofts C, Teague J, Butler A, Dicks E, Barthorpe S, Buck G, Cole J, Gray K, Halliday K, Hills K, Jenkinson A, Jones D, Menzies A, Mironenko T, Perry J, Raine K, Richardson D, Shepherd R, Small A, Varian J, West S, Widaa S, Mallya U, Wooster R, Moon J, Luo Y, Hughes H, Shaw M, Friend KL, Corbett M, Turner G, Partington M, Mulley J, Bobrow M, Schwartz C, Stevenson R, Gécz J, Stratton MR, Futreal PA, Raymond FL. Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly. American Journal of Human Genetics 81(2):367-374, 2007.

 

147.  Raymond FL, Tarpey PS, Edkins S, Tofts C, O'Meara S, Teague J, Butler A, Stevens C, Barthorpe S, Buck G, Cole J, Dicks E, Gray K, Halliday K, Hills K, Hinton J, Jones D, Menzies A, Perry J, Raine K, Shepherd R, Small A, Varian J, Widaa S, Mallya U, Moon J, Luo Y, Shaw M, Boyle J, Kerr B, Turner G, Quarrell O, Cole T, Easton DF, Wooster R, Bobrow M, Schwartz CE, Gécz J, Stratton MR, Futreal PA. Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus. American Journal of Human Genetics 80(5):982-987, 2007.

 

148.  Schwartz CE, Tarpey PS, Lubs HA, Verloes A, May MM, Risheg H, Friez MJ, Futreal PA, Edkins S, Teague J, Briault S, Skinner C, Bauer-Carlin A, Simensen RJ, Joseph SM, Jones JR, Gécz J, Stratton MR, Raymond FL, Stevenson RE. The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. Journal of Medical Genetics 44(7):472-477, 2007.

 

149.  Froyen G, Bauters M, Boyle J, Van Esch H, Govaerts K, van Bokhoven H, Ropers HH, Moraine C, Chelly J, Fryns JP, Marynen P, Gécz J, Turner G. Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region. Human Genetics 121(5):539-547, 2007.

 

150.  Shoubridge C, Cloosterman D, Parkinson–Lawrence E, Brooks D, Gécz J. Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene. Genomics, 90(1):59-71, 2007.

 

151.  McKenzie O, Ponte I, Mangelsdorf M, Finnis M, Stifani S, Shoubridge C, Gécz J, Broccoli V. Aristaless-related homebox gene, the gene responsible for West syndrome and related disorders, is a groucho/transducin-like enhancer of split (TLE) dependent transcriptional repressor. Neuroscience 146(1):236-247, 2007. I am listed as second to last author, but I am the corresponding author.

 

152.  de Brouwer AP, Yntema HG, Kleefstra T, Lugtenberg D, Oudakker AR, de Vries BB, van Bokhoven H, Van Esch H, Frints SG, Froyen G, Fryns JP, Raynaud M, Moizard MP, Ronce N, Bensalem A, Moraine C, Poirier K, Castelnau L, Saillour Y, Bienvenu T, Beldjord C, des Portes V, Chelly J, Turner G, Fullston T, Gécz J, Kuss AW, Tzschach A, Jensen LR, Lenzner S, Kalscheuer VM, Ropers HH, Hamel BC. Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Human Mutation. 28(2):207-225, 2007.

 

153.  Tarpey PS, Raymond FL, O'meara S, Edkins S, Teague J, Butler A, Dicks E, Stevens C, Tofts C, Avis T, Barthorpe S, Buck G, Cole J, Gray K, Halliday K, Harrison R, Hills K, Jenkinson A, Jones D, Menzies A, Mironenko T, Perry J, Raine K, Richardson D, Shepherd R, Small A, Varian J, West S, Widaa S, Mallya U, Moon J, Luo Y, Holder S, Smithson SF, Hurst JA, Clayton-Smith J, Kerr B, Boyle J, Shaw M, Vandeleur L, Rodriguez J, Slaugh R, Easton DF, Wooster R, Bobrow M, Srivastava AK, Stevenson RE, Schwartz CE, Turner G, Gécz J, Futreal PA, Stratton MR, Partington M. Mutations in CUL4B, encoding a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus and tremor. American Journal of Human Genetics. 80(2):345-352, 2007.

 

154.  Chen W, Jensen LR, Gécz J, Fryns JP, Moraine C, de Brouwer A, Chelly J, Moser B, Ropers HH, Kuss AW. Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation. European Journal of Human Genetics, 15(3):375-378, 2007.

 

155.  Ali A, Christie PT, Grigorieva IV, Harding B, Van Esch H, Ahmed SF, Bitner-Glindzicz M, Blind E, Bloch C, Christin P, Clayton P, Gécz J, Gilbert-Dussardier B, Guillen-Navarro E, Hackett A, Halac I, Hendy GN, Lalloo F, Mache CJ, Mughal Z, Ong AC, Rinat C, Shaw N, Smithson SF, Tolmie J, Weill J, Nesbit MA, Thakker RV. Functional Characterisation of GATA3 Mutations Causing  the Hypoparathyroidism- Deafness-Renal (HDR) Dysplasia  Syndrome:Insights into Mechanisms of DNA binding by the GATA3 transcription factor. Human Molecular Genetics. 16(3):265-275, 2007.

 

156.  Tarpey PS, Stevens C, Teague J, Edkins S, O'meara S, Avis T, Barthorpe S, Buck G, Butler A, Cole J, Dicks E, Gray K, Halliday K, Harrison R, Hills K, Hinton J, Jones D, Menzies A, Mironenko T, Perry J, Raine K, Richardson D, Shepherd R, Small A, Tofts C, Varian J, West S, Widaa S, Yates A, Catford R, Butler J, Mallya U, Moon J, Luo Y, Dorkins H, Thompson D, Easton DF, Wooster R, Bobrow M, Carpenter N, Simensen RJ, Schwartz CE, Stevenson RE, Turner G, Partington M, Gécz J, Stratton MR, Futreal PA, Raymond FL. Mutations in the Gene Encoding the Sigma 2 Subunit of the Adaptor Protein 1 Complex, AP1S2, Cause X-Linked Mental Retardation. American Journal of Human Genetics. 79(6):119-1124, 2006.

 

157.  Sharma S, Ang SL, Shaw M, Mackey DA, Gécz J, McAvoy JW, Craig JE. Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions. Human Molecular Genetics 15(12):1972-1983, 2006.

 

158.  Santos-Reboucas CB, Abdalla CB, Fullston T, Campos M Jr, Pimentel MM, Gécz J. Lack of FMR3 expression in a male with non-syndromic mental retardation and a microdeletion immediately distal to FRAXE CCG repeat. Neuroscience Letters 397(3):245-248, 2006.

 

159.  Lugtenberg D, Yntema HG, Banning MJ, Oudakker AR, Firth HV, Willatt L, Raynaud M, Kleefstra T, Fryns JP, Ropers HH, Chelly J, Moraine C, Gécz J, Reeuwijk J, Nabuurs SB, de Vries BB, Hamel BC, de Brouwer AP, Bokhoven H. ZNF674: A New Kruppel-Associated Box-Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental Retardation. American Journal of Human Genetics 78(2):265-278, 2006.

 

160.  Crawford J, Lower KM, Hennekam RC, Van Esch H, Megarbane A, Lynch SA, Turner G, Gécz J. Mutation screening in Borjeson-Forssman-Lehmann Syndrome (BFLS): Identification of a novel, de novo PHF6 mutation in a female patient. Journal of Medical Genetics 43(3):238-43, 2006.

 

161.  Hagens O, Dubos A, Abidi F, Barbi G, Van Zutven L, Hoeltzenbein M, Tommerup N, Moraine C, Fryns JP, Chelly J, van Bokhoven H, Gécz J, Dollfus H, Ropers HH, Schwartz CE, de Cassia Stocco Dos Santos R, Kalscheuer V, Hanauer A.  Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation. Human Genetics 118(5):578-90, 2006.

 

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

 

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

 

164.  Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gécz J, Moraine C, Marynen P, Fryns JP, Froyen G. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. American Journal of Human Genetics 77(3):442-53, 2005.

 

165.  Evans JC, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R, Whatley SD, Clarke AJ. Early onset seizures and Rett-like features associated with mutations in CDKL5. European Journal of Human Genetics 13(10):1113-20, 2005.

 

166.  Stepp ML, Cason AL, Finnis M, Mangelsdorf M, Holinski-Feder E, Macgregor D, MacMillan A, Holden JJ, Gécz J, Stevenson RE, Schwartz CE. XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene. BMC Medical Genetics 25;6:16, 2005. IF= 1.77 (4)

 

167.  Jensen LR, Amende M, Gurok U, Moser B, Gimmel V, Tzschach A, Janecke AR, Tariverdian G, Chelly J, Fryns JP, Van Esch H, Kleefstra T, Hamel B, Moraine C, Gécz J, Turner G, Reinhardt R, Kalscheuer VM, Ropers HH, Lenzner S. Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. American Journal of Human Genetics 76(2):227-36, 2005.

 

168.  Weaving LS, Ellaway CJ, Gécz J, Christodoulou J Rett Syndrome: Clinical Review and Genetic Update Journal of Medical Genetics 42(1):1-7, 2005.

 

169.  Tao J, Van Esch H, Hagedorn-Greiwe M, Hoffmann K, Moser B, Raynaud M, Sperner J, Fryns JP,Schwinger E, Gécz J, Ropers HH and Kalscheuer VM Mutations in the X-linked cyclin- dependent kinase-like 5 (CDKL5/STK9) gene are associated with  severe neurodevelopmental retardation. American Journal of Human Genetics 75(6):1149-1154, 2004.

 

170.  Weaving LS, Christodoulou J, Williamson SL, Friend KL, McKenzie OLD, Archer H, Evans J, Clarke A, Pelka GJ, Tam PPL, Watson C, Lahooti H,  Ellaway CJ, Bennetts B, Leonard H, and Gécz J Mutations of CDKL5 Cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. American Journal of Human Genetics 75(6):1079-1093, 2004.

 

171.  Cantagrel V, Lossi AM, Boulanger S, Depetris D, Mattei MG, Gécz J, Schwartz CE, Van Maldergem L, Villard L Disruption of a new x-linked gene highly expressed in brain in a family with two mentally retarded males.  Journal of Medical Genetics 41:736-742, 2004.

 

172.  Lower KM, Kumar R, Woollatt E, Villard L, Gécz J, Sutherland GR and Callen DF Partial Androgen Insensitivity Syndrome and t(X;5): Are these Upstream Regulatory Elements of the Androgen Receptor Gene?. Hormone Research 62(4):208-214, 2004.

 

173.  Christophe-Hobertus C, Kooy F, Gécz J, Abramowicz MJ, Holinski-Feder E, Schwartz C, Christophe D TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation. BMC Medical Genetics 5(1):22-26, 2004.

 

174.  Colombo E, Galli R, Cossu G, Gécz J, Broccoli V Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons. Developmental Dynamics 231(3):631-639, 2004.

 

175.  Freude K, Hoffmann K, Jensen LR, Delatycki MB, des Portes V, Moser B, Hamel B, van Bokhoven H, Moraine C, Fryns JP, Chelly J, Gécz J, Lenzner S, Kalscheuer VM, Ropers HH. Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation. American Journal of Human Genetics 75(2):305-309, 2004.

 

176.  Tarpey P, Parnau J, Blow M, Woffendin H, Bignell G, Cox C, Cox J, Davies H, Edkins S, Holden S, Korny A, Mallya U, Moon J, O'Meara S, Parker A, Stephens P, Stevens C, Teague J, Donnelly A, Mangelsdorf M, Mulley J, Partington M, Turner G, Stevenson R, Schwartz C, Young I, Easton D, Bobrow M, Futreal PA, Stratton MR, Gécz J, Wooster R, Raymond FL. Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. American Journal of Human Genetics 75(2):318-324, 2004.

 

177.  Lower KM, Solders G, Bondeson ML, Nelson J, Brun A, Crawford J, Malm G, Borjeson M, Turner G, Partington M, Gécz J 1024C>T (R342X) is a recurrent PHF6 mutation also found in the original Borjeson-Forssman-Lehmann syndrome family. European Journal of Human Genetics 12(10):787-789, 2004.

 

178.  Sarafidou T, Kahl C, Martinez-Garay I, Mangelsdorf M, Gesk S, Baker E, Kokkinaki M, Talley, Maltby EL, French L, Harder L, Hinzmann B, Nobile C, Richkind K, Finnis M, European Collaborative Consortium for the study of ADLTE, Deloukas P, Sutherland GR, Kutsche K, Moschonas NK, Siebert R, Gécz J Folate-sensitive fragile site FRA10A is due to an expansion of a CGG-repeat in a novel gene FRA10AC1, encoding a nuclear protein. Genomics 84(1):69-81, 2004.

 

179.  Shaw MA, McDonough B, Hodess AB, Harter DH, Gécz J Identification of a SEDL Gene Mutation in an Individual with Leber Hereditary Optic Neuropathy and Spondyloepiphyseal Dysplasia. American Journal of Medical Genetics 129A(2):206-267, 2004.

 

180.  Partington MW, Turner G, Boyle J and Gécz, J Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX and a review of published cases. Clinical Genetics 66(1):39-45, 2004.

 

181.  Turner G, Lower KM, White SL, Delatycki M, Lampe AK, Wright M, Clayton Smith J, Kerr B, Shelley S, Hoyme HE, De Vries BBA, Kleefstra T, Grompe M, Cox B, Gécz J, Partington M The clinical picture of the Borjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations. Clinical Genetics  65(3):226-232, 2004.

 

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

 

183.  Birrell G, Lampe A, Richmond S, Bruce SN, Lower K, Gécz J, Wright M, Cheetham TD. Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency. Journal of Pediatric Endocrinology & Metabolism16(9):1295-300, 2003.

 

184.  Burdon KP, McKay JD, Sale MM, Russell-Eggitt IM, Mackey DA, Wirth MG, Elder JE, Nicoll A, Clarke MP, FitzGerald LM, Stankovich JM, Shaw MA, Sharma S, Gajovic S, Gruss P, Ross S, Thomas P, Voss AK, Thomas T, Gécz J, Craig JE. Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation. American Journal of Human Genetics 73(5):1120-30, 2003.

 

185.  Shaw MA, Brunetti-Pierri N, Kádasi  L, del Maldergem V, Kovácová V and Gécz J. Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4.. Clinical Genetics 64(3):235-42, 2003.

 

186.  Kalscheuer VM, Freude K, Jensen LR, Gécz J, Hoffmann K, Moser B Haas S, Gurok S, Haesler S, Nierle P, Aranda B, Nshedjan A, Tzschach A, Hartmann N, Roloff TC, Shoichet S, Hagens O, Jiong T, Fryns JP, Nuber U, Hoeltzenbein M, Reinhardt R, Vingron M, Scharff C, Scherthan H, Lenzner  S, Schweiger S & Ropers HH. Mutations in the polyglutamine-binding protein 1 gene cause X-linked mental retardation. Nature Genetics 35(4):313-315, 2003.

 

187.  Strømme P, Gécz J. Spectrum of Neurological Phenotypes Caused by ARX Mutations. Acta Neurologica Scandinavica 107(6):432, 2003.

 

188.  Gécz J, Shaw MA, Bellon JR, de Barros Lopes M. Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not. Gene 320(11):137-144, 2003.

 

189.  Kalscheuer VM, Tao J, Donnelly A, Hollway G, Schwinger E, Kübart S, Menzel C, Hoeltzenbein M, Tommerup N, Eyre H, Harbord M, Haan E, Sutherland GR, Ropers HH, and Gécz J. Disruption of the Serine/Threonine Kinase 9 gene causes severe X-linked infantile spasms and mental retardation. American Journal of Human Genetics 72(6):1401-11, 2003.

 

190.  Ropers HH, Hoeltzenbein M, Kalscheuer VM, Yntema H, Hamel B,  Fryns JP, Chelly J, Turner G, Gécz J and Moraine C Non-syndromic X-linked mental retardation: where are the missing mutations? Trends in Genetics Jun;19(6):316-320, 2003.

 

191.  Gedeon AK, Nelson J, Gécz J, Mulley JC X-Linked Mild Non-syndromic Mental Retardation with Neuropsychiatric Problems and the Missense Mutation A365E in PAK3. American Journal of Medical Genetics 120A(4):509-17, 2003.

 

192.  Strømme P, Bahhl SJ, Dahl A, Gécz J Brain cysts associated with mutation in the Aristaless-related homeobox gene ARX. Journal of Neurology, Neurosurgery & Psychiatry, 74(4):536-538, 2003.

 

193.  Baumstark A, Lower KM, Sinkus A, Andriuskeviciute I, Jurkeniene L, Gécz J, Just W Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome. Journal of Medical Genetics 40(4):E50, 2003.

 

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

 

195.  Gécz J Sutherland GR. Nucleotide and protein expansion and human disease-Preface. Cytogenetics and Genome Research 100(1-4):5-6, 2003.

 

196.  Strømme P, Mangelsdorf ME, Scheffer IE, Gécz J Infantile spasms, dystonia, and other phenotypes caused by mutations in Aristaless, a novel X-linked homeobox gene, ARX.  Brain & Development  24:266-268, 2002.

 

197.  Shaw MA, Chiurazzi P, Romain DR, Neri G, Gécz J A novel gene, FAM11A, associated with the FRAXF CpG island is transcriptionaly silent in FRAXF full mutation. European Journal of Human Genetics 10:767-72, 2002.

 

198.  Turner G, Partington M, Kerr B, Mangelsdorf M, Gécz J Variable Expression of Mental Retardation, Autism, Seizures and Dystonic Hand Movements in Two Families with an Identical ARX Gene Mutation. American Journal of Medical Genetics 112(4):405-11, 2002.

 

199.  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 PHF6are associated with Börjeson -Forssman-Lehmann syndrome Nature Genetics 32(4):661-5, 2002.

 

200.  Bienvenu T, Poirier K, Friocourt G, Bahi N, Beaumont D, Fauchereau F, Ben Jeema L, Zemni R, Vinet MC, Francis F, Couvert P, Gomot M, Moraine C, van Bokhoven H, Kalscheuer V, Frints S, Gécz J, Ohzaki K, Chaabouni H, Fryns JP, Desportes V, Beldjord C, Chelly J. ARX, a novel prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental deficiency. Human Molecular Genetics 11(8):981-991, 2002.

 

201.  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.

 

202.  Scheffer IE, Wallace RH, Phillips FL, Hewson P, Reardon K, Parasivam G, Strømme P, Berkovic SF, Gécz J, Mulley JC X-Linked Myoclonic Epilepsy with Spasticity and Intellectual Disability – Mutation in the homeobox gene ARX Neurology 59(3):348-56, 2002.

 

203.  Lossi AM, Laugier-Anfossi F, Depetris D, Gécz J, Gedeon A, Kooy F, Schwartz C, Mattei MG, Croquette MF, Villard L. Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an x-autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation.  Journal of Medical Genetics 39:(2)113-117, 2002.

 

204.  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.

 

205.  Tiller GE, Hannig VL, Dozier D, Carrel L, Trevarthen KC, Wilcox WR, Mundlos S, Haines JL, Gedeon AK, Gécz J A recurrent RNA splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda. American Journal of Human Genetics 68(6):1398–1407, 2001.

 

206.  Gedeon AK, Tiller GE, Le Merrer M, Heuertz S, Tranebjaerg L, Chitayat D, Robertson S, Glass IA, Savarirayan R, Cole WG, Rimoin DL, Kousseff BG, Ohashi H, Zabel B, Munnich A, Gécz J, Mulley JC. The molecular basis of x-linked spondyloepiphyseal dysplasia tarda . American Journal of Human Genetics 68(6):1386–1397, 2001.

 

207.  Lower K, and Gécz J Characterisation of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for X-linked mental retardation: Mutation screening in Börjeson-Forssman-Lehmann Syndrome and MRX27. American Journal of Medical Genetics. 100(1):43-48, 2001.

 

208.  Hillman M, and Gécz J Fragile XE associated familial mental retardation protein 2 (FMR2) acts as a potent transcription activator. Journal of Human Genetics 46(5):251-259, 2001.

 

209.  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.

 

210.  Gécz J FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations. Journal of Medical Genetics 37(10):782-784, 2000.

 

211.  Gécz J, Hillman M, Gedeon A, Baker E, Cox T, Mulley JC Gene structure and expression study of SEDL gene associated with spondyloepiphyseal dysplasia tarda (SEDL). Genomics 69(2):242-251, 2000.

 

212.  Villard L, Fontes M, Ades LC, and Gécz J Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome. American Journal of Medical Genetics 91(1): 83-85, 2000.

 

213.  Gécz J, and Mulley JC. Genes for cognitive function: Developments on the X. Genome Research 10(2):157-163, 2000.

 

214.  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.

 

215.  Gécz J, Barnett S, Hollway G, Donnelly A, Eyre H, Eshkevari HS, Nagaraja R, Baron M, Peltonen L, Sutherland GR and Mulley JC Characterisation of The Human Glutamate Receptor Subunit 3 Gene (GRIA3), a candidate for a bipolar disorder and nonspecific  X-linkedMental Retardation. Genomics 62(3): 356-368, 1999.

 

216.  Villard L, Briault S, Losi AM, Parigaux C, Belougne J, Colleaux L, Pincus DR, Woollatt E, Lespinasse J, Munnich A, Moraine C, Fontes M, and Gécz J Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: Physical and transcriptional mapping of their common breakpoint region in Xq13.1. Journal of Medical Genetics 36(10): 754-758, 1999.

 

217.  Gedeon AK, Colley A, Jamieson R, Thompson EM, Rogers J, Sillence D, Tiller GE Mulley JC and Gécz J Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda . Nature Genetics 22(4): 400-404, 1999.

 

218.  Merienne K, Jacquot S, Pennetier S, Bankier A, Gécz J, Mandel JL, Mulley JC, Sassone-Corsi P and Hanauer A A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation. Nature Genetics 22(1) 13-14, 1999.

 

219.  Gécz J, and Mulley JC Characterisation and expression of a large, 13.7 kb FMR2 isoform. European Journal of Human Genetics, 7(2): 157-163, 1999.

 

220.  Gécz J, Baker E, Donnelly A, Ming JE, McDonald-McGinn DM, Spinner NB, Zackai EH, Sutherland GRS, and Mulley JC Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Borjeson-Forsmann-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient. Human Genetics, 104(1): 56-63, 1999.

 

221.  Gécz J, Bielby S, Sutherland GR, and Mulley JC Gene structure and subcellular localisation of FMR2, a member of a new family of putative transcription activators. Genomics 44(2): 201-213, 1997.

 

222.  Gécz J, Oostra BA, Hockey A, Carbonell P, Turner G, Haan EA, Sutherland GR, and Mulley JC  FMR2 expression in families with FRAXE mental retardation. Human Molecular Genetics 6(3): 435-441, 1997.

 

223.  Hollway G, Suthers GK, Haan EA, Thompson E, David DJ, Gécz J, and Mulley JC  Mutation detection in FGFR2 craniosynostosis syndromes. Human Genetics 99(2): 251-255, 1997.

 

224.  Villard L, Gécz J, Mattei JF, Saugier-Veber P, Munnich A, Lyonnet S, Fontes M  XNP Mutation in a large family with Juberg-Marsidi Syndrome. Nature Genetics 12(4):359-360, 1996.

 

225.  Villard L, Toutain A, Lossi AM, Gécz J, Houdayer C, Moraine C, Fontes M  Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia. American Journal of Human Genetics 58(3):499-505, 1996.

 

226.  Gécz J, Gedeon AG, Sutherland GR, Mulley JC  Identification of the gene FMR2, associated with FRAXE mental retardation. Nature Genetics 13(1):105-108, 1996.

 

227.  Villard L, Gécz J, Colleaux L, Lossi AM, Chelly J, Ishikawa-Brush Y, Monaco AP, Fontes M  Construction of a YAC contig spanning the Xq13.3 subband. Genomics 26(1):115-122, 1995.

 

228.  Gedeon AK, Keinanen M, Ades L, Kaariainen H, Gécz J, Baker E, Sutherland GR, Mulley JC  Overlapping submicroscopic deletions in Xq28 in two boys with developmental disorders: Identification of a gene near FRAXE. American Journal of Human Genetics 56(4): 907-914, 1995.

 

229.  Gécz J, Gaunt SJ, Passage E, Burton RD, Cudrey C, Pearce JH, Fontes M  Assignment of a polycomb-like chromobox gene (CBX2) to human chromosome 17 (17Q25). Genomics 26(1):130-133, 1995.

 

230.  Kadasi L, Gécz J, Ferakova I, Lubyova B, Bohusova T, Ferakova E, Polakova H Distribution of ApoBII, MCT118(D1S80), YNZ22(D17S30), and COL2A1 Amp-FLPs (amplified fragment length polymorphisms) in Caucasoid population of Slovakia. Gene Geography 8(2):121-127, 1994.

 

231.  Stayton CL, Dabovic B, Gulisano M, Gécz J, Broccoli V, Giovanazzi S, Bossolasco M, Moanco L, Rastan S, Bonicelli E, Bianchi ME, Consalez GG  Cloning and characterization of a new human XQ13 gene, encoding a putative helicase. Human Molecular Genetics 3(11):1957-1964, 1994.

 

232.  Gécz J, Pollard H, Consalez GG, Villard L, Stayton CL, Millasseau P, Khrestchatisky M, Fontes M  Cloning and expression of a murine homologue of a human X-linked nuclear protein gene close to PGK1 (Xq13.3). Human Molecular Genetics 3(1):39-44, 1994.

 

233.  Villard L, Gécz J. Lossi AM, Fontes M  Progress toward the construction of a YAC contig covering the whole Xq13.3 subband. Cytogenetics and Cell Genetics 64, 4 Mar: 177, 1993.

 

234.  Gécz J, Villard L, Lossi AM, Fontes M Construction of a transcription map of the DXS56-PGK1 1Mb region via direct cDNA selection approach. Cytogenetics and Cell Genetics 64, 4 Mar: 178, 1993.

 

235.  Saksova L, Gécz J, Kadasi L, Ferak V  TaqI digestion of PCR product increases the informativity of st14 VNTR for the diagnosis of hemophilia A. Disease Markers 11, 3 Feb:139-141, 1993.

 

236.  The Cystic Fibrosis Genotype-Phenotype Consortium. Correlation between genotype and phenotype in patients with cystic fibrosis. New England Journal of Medicine 329(18):1308-1313, 1993.

 

237.  Gécz J, Villard L, Lossi AM, Millasseau P, Djabali M, Fontes M  Physical and transcriptional mapping of the DXS56-PGK1 1Mb region: Identification of 3 new transcripts. Human Molecular Genetics 2(9):1389-1396, 1993.

 

238.  Kadasi L, Gécz J, Saksova L, Thurzova M  Molecular genetic analysis of deletions in the Duchenne and Becker types of progressive muscular dystrophy. Bratislavske Lekárske Listy 94:249-253, 1993.

 

239.  Gécz J DNA diagnosis of hemophilia A in a family without an affected proband. Bratislavske Lekárske Listy 94:326-328, 1993.

 

240.  Kadasi L, Gécz J, Krivusova T, Matusek J, Ferak V  Haplotype analysis of delta F508 deletion in Slovak CF patients. Functional Development and Morphology 2:141-142, 1992.

 

241.  Gécz J, Saksova L, Kadasi L, Veghova E  Identification of a de novo mutation in a factor FVIII:C gene in a family requesting prenatal diagnosis of hemophilia A. Bratislavske Lekárske Listy 93:459-462, 1992.

 

242.  Gécz J, Magdolen P, Ondrejcak M, Hruskovic I, Hinst J, Ferak V  Rapid prenatal diagnosis of cystic fibrosis by means of PCR: Results of the first five diagnoses. Bratislavske Lekárske Listy 93:76-81, 1992.

 

243.  Consalez GG, Gécz J, Stayton CL, Dabovic B, Pasini B, Pezzolo A, Bicocchi P, Fontes M, Romeo, G  Fine mapping and cloning of the breakpoint associated with Menkes syndrome in a female patient. Genomics 14(3):557-562, 1992.

 

244.  Kadasi L, Gécz J, Krivusova T, Matusek J, Hruskovic I, Ferak V The delta F508 mutation which causes cystic fibrosis and its association with closely linked DNA polymorphisms in the Slovak population. Bratislavske Lekárske Listy 93:141-145, 1992.

 

245.  Kadasi L, Gécz J, Matusek J, Krivusova T, Ferak V, Devotto M, Hruskovic I, Romeo, G  Deletion Delta F508 and the haplotype analysis of CFTR gene in Slovak CF patients. Human Genetics 89(3):305 1992.

 

246.  Gécz J  PCR amplification of large VNTR alleles of D17S5 (YNZ22) locus. Nucleic Acids Research 19(20):5806, 1991.

 

247.  Puliti A, Orriols JJ, Ronchetto P, Fenu L, Devoto M, Romeo G, Kadasi L, Gécz J, Ferak V  Frequency of cystic fibrosis mutations and associated haplotype distribution in Slovak CF patients. Advances in Experimental Medical Biology 290:383-385, 1991.

 

248.  Kadasi L, Gécz J, Saksova L Frequency and distribution of deletions in dystrophin gene in Duchenne muscular dystrophy patients from an east-European Slavonic population. Gene Geography 5:137-140, 1991.

 

249.  Kadasi L, Gécz J, Ferak V.  Amplification of DNA using the polymerase chain reaction technique (PCR) in medical practice. Lekársky Obzor 40:641-650, 1991.

 

250.  Gécz J, Kadasi L, Polakova H, Ferak V Use of DNA analysis in the diagnosis and prevention of hemophilia A. Bratislavske Lekárske Listy 91:219-224, 1990.

 

251.  Kadasi L, Hruskovic I, Thurzova M, Kayserova H, Gécz J, Ferak V. DNA analysis as a method of prevention of cystic fibrosis. Ceskoslovenská Pediatrie 43:646-651, 1988.

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)

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Entry last updated: Tuesday, 29 Aug 2017

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