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De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Shashi, Vandana; Pena, Loren D M; Kim, Katherine; Burton, Barbara; Hempel, Maja; Schoch, Kelly; Walkiewicz, Magdalena; McLaughlin, Heather M; Cho, Megan; Stong, Nicholas; Hickey, Scott E; Shuss, Christine M; Freemark, Michael S; Bellet, Jane S; Keels, Martha Ann; Bonner, Melanie J; El-Dairi, Maysantoine; Butler, Megan; Kranz, Peter G; Stumpel, Constance T R M; Klinkenberg, Sylvia; Oberndorff, Karin; Alawi, Malik; Santer, Rene; Petrovski, Slavé; Kuismin, Outi; Korpi-Heikkilä, Satu; Pietilainen, Olli; Aarno, Palotie; Kurki, Mitja I; Hoischen, Alexander; Need, Anna C; Goldstein, David B; Kortüm, Fanny.
Afiliação
  • Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC 27710, USA. Electronic address: vandana.shashi@duke.edu.
  • Pena LD; Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC 27710, USA.
  • Kim K; Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.
  • Burton B; Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.
  • Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Schoch K; Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC 27710, USA.
  • Walkiewicz M; Baylor College of Medicine, Houston, TX 77030, USA.
  • McLaughlin HM; GeneDx, Gaithersburg, MD 20877, USA.
  • Cho M; GeneDx, Gaithersburg, MD 20877, USA.
  • Stong N; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.
  • Hickey SE; Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH 43082, USA.
  • Shuss CM; Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH 43082, USA.
  • Freemark MS; Division of Endocrinology and Diabetes, Department of Pediatrics, Duke Health, Durham, NC 27710, USA.
  • Bellet JS; Departments of Pediatrics and Dermatology, Duke Health, Durham, NC 27710, USA.
  • Keels MA; Departments of Pediatrics and Surgery, Duke Health, Durham, NC 27710, USA.
  • Bonner MJ; Psychiatry and Behavioral Sciences, Duke Health, Durham, NC 27710, USA.
  • El-Dairi M; Duke Eye Center, Duke Health, Durham, NC 27710, USA.
  • Butler M; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Duke Health, Durham, NC 27710, USA.
  • Kranz PG; Division of Neuroradiology, Department of Radiology, Duke Health, Durham, NC 27710, USA.
  • Stumpel CT; Department of Clinical Genetics and School for Oncology & Developmental Biology, Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.
  • Klinkenberg S; Department of Neurology, Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.
  • Oberndorff K; Department of Pediatrics, Zuyderland Medical Center, 6162 BG Sittard, the Netherlands.
  • Alawi M; Bioinformatics Service Facility, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; Center for Bioinformatics, University of Hamburg, 20246 Hamburg, Germany; Heinrich-Pette-Institute, Leibniz-Institute for Experimental Virology, Virus Genomics, 20246 Hamburg, Germany.
  • Santer R; Department of Paediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Petrovski S; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA; Department of Medicine, Austin Health and Royal Melbourne Hospital, University of Melbourne, Melbourne, VIC 3050, Australia.
  • Kuismin O; PEDEGO Research Unit, Medical Research Center Oulu, Oulu University Hospital and University of Oulu, 90014 Oulu, Finland; Department of Clinical Genetics, Oulu University Hospital, 90029 Oulu, Finland; Institute for Molecular Medicine Finland, University of Helsinki, 00290 Helsinki, Finland.
  • Korpi-Heikkilä S; Northern Ostrobothnia Hospital District, Center for Intellectual Disability Care, 90220 Oulu, Finland.
  • Pietilainen O; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Harvard Stem Cell Institute, Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA.
  • Aarno P; Institute for Molecular Medicine Finland, University of Helsinki, 00290 Helsinki, Finland; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston,
  • Kurki MI; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Psychiatric and Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Boston, MA 02114, USA; Genetic Analysis Platform, Broad Institute of MIT and Harvard,
  • Hoischen A; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Need AC; Division of Brain Sciences, Department of Medicine, Imperial College London, London W12 0NN, UK.
  • Goldstein DB; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.
  • Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Am J Hum Genet ; 99(4): 991-999, 2016 Oct 06.
Article em En | MEDLINE | ID: mdl-27693232
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Proteínas Repressoras Tipo de estudo: Risk_factors_studies Limite: Child / Child, preschool / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Hum Genet Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Proteínas Repressoras Tipo de estudo: Risk_factors_studies Limite: Child / Child, preschool / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Hum Genet Ano de publicação: 2016 Tipo de documento: Article