Publications by authors named "Jozef Gécz"

100Publications

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Nat Commun 2020 10 1;11(1):4932. Epub 2020 Oct 1.

Department of Genome Sciences, University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41467-020-18723-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7530681PMC
October 2020

Downregulation of the GHRH/GH/IGF1 axis in a mouse model of Börjeson-Forssman-Lehman syndrome.

Development 2020 Oct 23;147(21). Epub 2020 Oct 23.

Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria 3052, Australia

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http://dx.doi.org/10.1242/dev.187021DOI Listing
October 2020

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.

Nat Genet 2020 Oct 28;52(10):1046-1056. Epub 2020 Sep 28.

Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.

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http://dx.doi.org/10.1038/s41588-020-0695-1DOI Listing
October 2020

A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions.

Am J Hum Genet 2020 Oct 15;107(4):654-669. Epub 2020 Sep 15.

Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, Hess Center for Science and Medicine, New York, NY 10029, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.08.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7536611PMC
October 2020

PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum.

Adv Exp Med Biol 2020 Aug 28. Epub 2020 Aug 28.

Adelaide Medical School, the University of Adelaide, Adelaide, SA, Australia.

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http://dx.doi.org/10.1007/5584_2020_574DOI Listing
August 2020

Disentangling the paradox of the PCDH19 clustering epilepsy, a disorder of cellular mosaics.

Curr Opin Genet Dev 2020 Jul 26;65:169-175. Epub 2020 Jul 26.

Adelaide Medical School and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5005, Australia; Precision Medicine, South Australian Health and Medical Research Institute, Adelaide, SA 5005, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.gde.2020.06.012DOI Listing
July 2020

Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion.

Eur J Med Genet 2020 Oct 17;63(10):104010. Epub 2020 Jul 17.

Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, 5005, Australia; South Australian Health and Medical Research Institute, Adelaide, South Australia, 5000, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.104010DOI Listing
October 2020

Definition and diagnosis of cerebral palsy in genetic studies: a systematic review.

Dev Med Child Neurol 2020 Sep 15;62(9):1024-1030. Epub 2020 Jun 15.

Discipline of Obstetrics & Gynaecology, University of Adelaide, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1111/dmcn.14585DOI Listing
September 2020

Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation.

Neurology 2020 05 28;94(20):e2148-e2167. Epub 2020 Apr 28.

From the Department of Medicine (M.S.H., M.C., K.A.R., I.E.S.), The University of Melbourne, Austin Health, Heidelberg; Population Health and Immunity Division (V.E.J., T.S.S., M.B.), The Walter and Eliza Hall Institute of Medical Research; Departments of Medical Biology (V.E.J., T.S.S., M.B.) and Audiology and Speech Pathology (R.O.B., A.T.M.) and Department of Paediatrics, The Royal Children's Hospital (B.P.-F., G.P., M.H., D.J.A., I.E.S.), The University of Melbourne; Speech and Language (O.V.R., R.O.B., S.T., S.B., S.R., A.T.M.), Murdoch Children's Research Institute (M.S.H., D.J.A., I.E.S.); Victorian Clinical Genetics Services (A. Boys, M.D.), Parkville, Victoria; Department of Neurology (R.W.) and Clinical Genetics (A.M.), The Children's Hospital Westmead; Department of Paediatrics (M.F., K.S.), Monash University; Monash Children's Hospital (K.S.), Clayton, Victoria; The Wesley Hospital (D.C.), Auchenflower, Queensland; Hunter Genetics (H.G., A. Baxter), John Hunter Hospital, New Lambton Heights; Melbourne Children's Clinic (N.D.), Victoria; Griffith University (S.R.), Mount Gravatt, Queensland, Australia; UCL Great Ormond Street Institute of Child Health (F.J.L.), London, UK; Florey Institute of Neuroscience and Mental Health (A.C., I.E.S.), Parkville, Victoria; South Australian Health and Medical Research Institute (J.G.), Robinson Research Institute and Adelaide Medical School, University of Adelaide, South Australia; Language and Genetics Department (S.E.F.), Max Planck Institute for Psycholinguistics; and Donders Institute for Brain, Cognition and Behaviour (S.E.F.), Radboud University, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000009441DOI Listing
May 2020

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

Cell Rep 2020 03;30(11):3717-3728.e6

Collaborative Innovation Center for Brain Science, Department of Anatomy and Physiology, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China; Shanghai Research Center for Brain Science and Brain-Inspired Intelligence, Shanghai 201210, China. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2020.02.085DOI Listing
March 2020

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

Am J Hum Genet 2020 03 27;106(3):356-370. Epub 2020 Feb 27.

Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.01.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7058829PMC
March 2020

Levetiracetam efficacy in PCDH19 Girls Clustering Epilepsy.

Eur J Paediatr Neurol 2020 Jan 3;24:142-147. Epub 2020 Jan 3.

Department of Medicine, Epilepsy Research Centre, The University of Melbourne, Austin Health, Melbourne, VIC, Australia; Department of Paediatrics, Royal Children's Hospital, The University of Melbourne, VIC, Australia; The Florey Institute and Murdoch Children's Research Institute, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1016/j.ejpn.2019.12.020DOI Listing
January 2020

X-linked intellectual disability: Phenotypic expression in carrier females.

Clin Genet 2020 03 24;97(3):418-425. Epub 2019 Nov 24.

J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina.

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http://dx.doi.org/10.1111/cge.13667DOI Listing
March 2020

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Nat Commun 2019 10 29;10(1):4920. Epub 2019 Oct 29.

Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia.

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http://dx.doi.org/10.1038/s41467-019-12671-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6820779PMC
October 2019

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

Eur J Med Genet 2020 Apr 23;63(4):103799. Epub 2019 Oct 23.

Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, 5000, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5000, Australia; Healthy Mothers, Babies and Children, South Australian Health and Medical Research Institute, Adelaide, SA, 5000, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103799DOI Listing
April 2020

Disruptive variants of associate with autism and interfere with neuronal development and synaptic transmission.

Sci Adv 2019 09 25;5(9):eaax2166. Epub 2019 Sep 25.

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

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http://dx.doi.org/10.1126/sciadv.aax2166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6760934PMC
September 2019

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2020 01 29;87(2):100-112. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2019.05.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6925349PMC
January 2020

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2019 Mar;104(3):562

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http://dx.doi.org/10.1016/j.ajhg.2019.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407522PMC
March 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2018 11 18;103(5):666-678. Epub 2018 Oct 18.

Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
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http://dx.doi.org/10.1016/j.ajhg.2018.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6216110PMC
November 2018

A genomic cause of cerebral palsy should not change the clinical classification.

Ann Clin Transl Neurol 2018 Aug 22;5(8):1011. Epub 2018 Jun 22.

For the Australian Collaborative Cerebral Palsy Research Group The Robinson Research Institute The University of Adelaide North Adelaide South Australia Australia.

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http://dx.doi.org/10.1002/acn3.591DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6093850PMC
August 2018

Robust imaging and gene delivery to study human lymphoblastoid cell lines.

J Hum Genet 2018 Sep 20;63(9):945-955. Epub 2018 Jun 20.

School of Medicine, The University of Adelaide, Adelaide, 5005, Australia.

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http://dx.doi.org/10.1038/s10038-018-0483-2DOI Listing
September 2018

PCDH19 regulation of neural progenitor cell differentiation suggests asynchrony of neurogenesis as a mechanism contributing to PCDH19 Girls Clustering Epilepsy.

Neurobiol Dis 2018 08 12;116:106-119. Epub 2018 May 12.

School of Medicine, The University of Adelaide, Adelaide 5005, Australia; Robinson Research Institute, The University of Adelaide, Adelaide 5006, Australia; School of Biological Sciences, The University of Adelaide, Adelaide 5005, Australia; South Australian Health and Medical Research Institute, Adelaide 5000, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2018.05.004DOI Listing
August 2018

Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism.

Transl Psychiatry 2018 04 23;8(1):88. Epub 2018 Apr 23.

Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, Australia.

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http://dx.doi.org/10.1038/s41398-018-0136-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5911435PMC
April 2018

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Am J Hum Genet 2018 05 12;102(5):985-994. Epub 2018 Apr 12.

Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183009
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http://dx.doi.org/10.1016/j.ajhg.2018.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986698PMC
May 2018

Cerebral palsy and genomics: an international consortium.

Dev Med Child Neurol 2018 02;60(2):209-210

The Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1111/dmcn.13643DOI Listing
February 2018

Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy.

Neuron 2018 01;97(1):59-66.e5

School of Biological Sciences and Robinson Research Institute, The University of Adelaide, Adelaide, SA 5005, Australia; School of Medicine and Robinson Research Institute, The University of Adelaide, Adelaide, SA 5005, Australia; South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08966273173112
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http://dx.doi.org/10.1016/j.neuron.2017.12.005DOI Listing
January 2018

Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction.

Eur J Hum Genet 2017 09 14;25(9):1078-1082. Epub 2017 Jun 14.

The Robinson Research Institute, The University of Adelaide, Adelaide, Australia.

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http://dx.doi.org/10.1038/ejhg.2017.97DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5558180PMC
September 2017

Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations.

Eur J Med Genet 2017 Aug 8;60(8):437-443. Epub 2017 Jun 8.

Adelaide Medical School, Robinson Research Institute, The University of Adelaide, Adelaide 5005, Australia; School of Biological Sciences, The University of Adelaide, Adelaide 5005, Australia; South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.06.002DOI Listing
August 2017

Reduced steroidogenesis in patients with PCDH19-female limited epilepsy.

Epilepsia 2017 06 4;58(6):e91-e95. Epub 2017 May 4.

Neurology Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1111/epi.13772DOI Listing
June 2017

The genetic basis of cerebral palsy.

Dev Med Child Neurol 2017 05 1;59(5):462-469. Epub 2017 Jan 1.

Departments of Child Health, Neurology and Genetics, University of Arizona, College of Medicine, Phoenix, AZ, USA.

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http://dx.doi.org/10.1111/dmcn.13363DOI Listing
May 2017

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.

Genome Biol 2016 11 29;17(1):243. Epub 2016 Nov 29.

Murdoch Childrens Research Institute, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1186/s13059-016-1105-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5126855PMC
November 2016

Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?

Epilepsy Res 2016 12 25;128:48-51. Epub 2016 Oct 25.

Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2016.10.008DOI Listing
December 2016

Embryonic forebrain transcriptome of mice with polyalanine expansion mutations in the ARX homeobox gene.

Hum Mol Genet 2016 12;25(24):5433-5443

Department of Paediatrics, Adelaide Medical School.

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http://dx.doi.org/10.1093/hmg/ddw360DOI Listing
December 2016

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.

Neurology 2016 Nov 12;87(19):1975-1984. Epub 2016 Oct 12.

From the School of Medicine and Robinson Research Institute (M.A.C., R.C., J.G.) and School of Biological Sciences (J.G.), The University of Adelaide; Epilepsy Research Centre, Department of Medicine (S.T.B., S. Micallef, S.F.B., I.E.S.), University of Melbourne, Austin Health, Heidelberg; Florey Institute of Neuroscience and Mental Health (M.L., S. Maljevic, E.V.G., S.P., I.E.S.), Melbourne; Division of Genetic Medicine, Department of Pediatrics (G.L.C., C.T.M., H.C.M.), University of Washington, Seattle; Department of Neurology (K.B.H., I.E.S.), Royal Children's Hospital; Neurosciences Group (K.B.H.), Murdoch Childrens Research Institute, Melbourne; Department of Paediatrics (K.B.H.), University of Melbourne, Royal Children's Hospital, Parkville, Australia; Department of Neurology and Epileptology (S. Maljevic, H.L.), Hertie Institute for Clinical Brain Research, University of Tübingen, Germany; The Walter and Eliza Hall Institute of Medical Research (M.B.); Department of Medical Biology (M.B.), The University of Melbourne, Parkville; and Department of Medicine, Royal Melbourne Hospital (S.P.), The University of Melbourne, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000003309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5109949PMC
November 2016

Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome.

Am J Hum Genet 2016 Oct 15;99(4):942-949. Epub 2016 Sep 15.

Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei 230022, China; Institute of Reproductive Genetics, Anhui Medical University, Hefei 230022, China; Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei 230022, China. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.08.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5065659PMC
October 2016

A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability.

Eur J Hum Genet 2016 11 25;24(11):1612-1616. Epub 2016 May 25.

School of Medicine and the Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1038/ejhg.2016.46DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110046PMC
November 2016

Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism.

Clin Endocrinol (Oxf) 2016 Oct 9;85(4):609-15. Epub 2016 Jun 9.

School of Biological Sciences, University of Adelaide, Adelaide, SA, Australia.

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http://dx.doi.org/10.1111/cen.13094DOI Listing
October 2016

Reply.

Am J Obstet Gynecol 2016 05 29;214(5):671. Epub 2016 Jan 29.

Neurogenetics Research Program, School of Paediatrics and reproductive Health, The University of Adelaide, Adelaide, South Australia.

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http://dx.doi.org/10.1016/j.ajog.2016.01.179DOI Listing
May 2016

Multiplex families with epilepsy: Success of clinical and molecular genetic characterization.

Neurology 2016 Feb 22;86(8):713-22. Epub 2016 Jan 22.

From the Sackler School of Medicine (Z.A., I.B., M.Y.N., T.L.-S., A.D.K.), Tel Aviv University, Ramat Aviv, Israel; Epilepsy Research Centre (K.L.O., K.L.H., I.E.S., S.F.B.), University of Melbourne, Austin Health, Heidelberg, Australia; Epilepsy Unit (S.K., H.G.-S., R.S.), Schneider Children's Medical Center of Israel, Petach Tikvah; Department of Neurology (A.M., M.Y.N.), Tel Aviv Sourasky Medical Center; Department of Neurology (I.B.), The Chaim Sheba Medical Center, Tel Hashomer; Shaare Zedek Medical Center (A.J.M.), Jerusalem; Department of Neurology (S.W.), Western Galilee Hospital, Nahariya; Pediatric Neurology and Child Development Center (M. Mahajnah), Hillel Yaffe Medical Center, Hadera; Ruth and Bruce Rappaport Faculty of Medicine (M. Mahajnah), Technion, Haifa; Pediatric Neurology Unit (T.L.-S.), Wolfson Medical Center, Holon; The Edmond and Lily Safra Children's Hospital (B.B.-Z.), Sheba Medical Center, Ramat Gan; Department of Neurology (E.K.), Barzilai Medical Center, Ashkelon; Faculty of Health Sciences (E.K., R.M., Z.S.), Ben-Gurion University of the Negev, Beer-Sheva; Department of Neurology (R.M.) and Pediatric Neurology Unit (Z.S.), Soroka University Medical Center, Beer-Sheva; Pediatric Neurology Unit (U.K.), Dana Children's Hospital, Tel Aviv; Department of Neurology (D.E.), Agnes Ginges Center of Neurogenetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel; School of Biomedical Sciences (R.H.W.), Charles Sturt University, NSW; Queensland Brain Institute (M. Mangelsdorf), University of Queensland, Brisbane, Australia; Wessex Regional Genetics Laboratory (J.N.M.), Salisbury NHS Foundation Trust, Salisbury, UK; Division of Genetic Medicine (G.L.C., H.C.M.), Department of Pediatrics, University of Washington, Seattle; Florey Institute (G.D.J., I.E.S.), Melbourne; Department of Pediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital; Population Health and Immunity Division (M.B.), The Walter and Eliza Hall Institute o

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http://dx.doi.org/10.1212/WNL.0000000000002404DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4763801PMC
February 2016

A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.

Am J Med Genet A 2016 Apr 28;170A(4):1059-63. Epub 2015 Dec 28.

School of Medicine, University of Adelaide, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37527DOI Listing
April 2016

Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1.

Hum Mutat 2015 Dec 10;36(12):1176-87. Epub 2015 Sep 10.

Department of Biochemistry and Biophysics, University of Rochester School of Medicine, Rochester, New York, 14642.

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http://dx.doi.org/10.1002/humu.22897DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4643400PMC
December 2015

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573244PMC
August 2015

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.

Am J Hum Genet 2015 Aug 9;97(2):302-10. Epub 2015 Jul 9.

School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia; School of Molecular and Biomedical Sciences, University of Adelaide, Adelaide, SA 5005, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.05.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573269PMC
August 2015

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.

Hum Mol Genet 2015 Sep 29;24(18):5250-9. Epub 2015 Jun 29.

School of Paediatrics and Reproductive Health, School of Molecular and Biomedical Sciences, SA Pathology, Adelaide, Australia, Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia,

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http://dx.doi.org/10.1093/hmg/ddv245DOI Listing
September 2015

Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders.

Eur J Hum Genet 2016 Mar 10;24(3):373-80. Epub 2015 Jun 10.

Department of Paediatrics, School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1038/ejhg.2015.123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4757771PMC
March 2016

Cerebral palsy: causes, pathways, and the role of genetic variants.

Am J Obstet Gynecol 2015 Dec 21;213(6):779-88. Epub 2015 May 21.

Neurogenetics Research Program, School of Pediatrics and Reproductive Health, the University of Adelaide, Adelaide, Australia.

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http://dx.doi.org/10.1016/j.ajog.2015.05.034DOI Listing
December 2015

Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome.

Eur J Med Genet 2015 Jun-Jul;58(6-7):364-8. Epub 2015 Apr 28.

Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia; School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA 5000, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.04.004DOI Listing
March 2016