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Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.
Khan, Kamal; Zech, Michael; Morgan, Angela T; Amor, David J; Skorvanek, Matej; Khan, Tahir N; Hildebrand, Michael S; Jackson, Victoria E; Scerri, Thomas S; Coleman, Matthew; Rigbye, Kristin A; Scheffer, Ingrid E; Bahlo, Melanie; Wagner, Matias; Lam, Daniel D; Berutti, Riccardo; Havránková, Petra; Fecíková, Anna; Strom, Tim M; Han, Vladimir; Dosekova, Petra; Gdovinova, Zuzana; Laccone, Franco; Jameel, Muhammad; Mooney, Marie R; Baig, Shahid M; Jech, Robert; Davis, Erica E; Katsanis, Nicholas; Winkelmann, Juliane.
Affiliation
  • Khan K; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.
  • Zech M; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.
  • Morgan AT; Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad, Pakistan.
  • Amor DJ; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
  • Skorvanek M; Institut für Humangenetik, Technische Universität München, Munich, Germany.
  • Khan TN; Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital, Parkville, Australia.
  • Hildebrand MS; Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital, Parkville, Australia.
  • Jackson VE; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.
  • Scerri TS; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.
  • Coleman M; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.
  • Rigbye KA; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan.
  • Scheffer IE; Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital, Parkville, Australia.
  • Bahlo M; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, Australia.
  • Wagner M; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, and University of Melbourne Department of Medical Biology and School of Mathematics and Statistics, Parkville, VIC, Australia.
  • Lam DD; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, and University of Melbourne Department of Medical Biology and School of Mathematics and Statistics, Parkville, VIC, Australia.
  • Berutti R; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, Australia.
  • Havránková P; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, Australia.
  • Fecíková A; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, Australia.
  • Strom TM; University of Melbourne Department of Paediatrics, Royal Children's Hospital, and Florey and Murdoch Children's Research Institute, Parkville, VIC, Australia.
  • Han V; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, and University of Melbourne Department of Medical Biology and School of Mathematics and Statistics, Parkville, VIC, Australia.
  • Dosekova P; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
  • Gdovinova Z; Institut für Humangenetik, Technische Universität München, Munich, Germany.
  • Laccone F; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
  • Jameel M; Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany.
  • Mooney MR; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic.
  • Baig SM; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic.
  • Jech R; Institut für Humangenetik, Technische Universität München, Munich, Germany.
  • Davis EE; Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany.
  • Katsanis N; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.
  • Winkelmann J; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.
Genet Med ; 21(11): 2532-2542, 2019 11.
Article in En | MEDLINE | ID: mdl-31036918
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Trans-Activators / Developmental Disabilities / Neurodevelopmental Disorders Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Female / Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2019 Type: Article Affiliation country: United States
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Trans-Activators / Developmental Disabilities / Neurodevelopmental Disorders Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Female / Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2019 Type: Article Affiliation country: United States