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De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Mirzaa, Ghayda M; Chong, Jessica X; Piton, Amélie; Popp, Bernt; Foss, Kimberly; Guo, Hui; Harripaul, Ricardo; Xia, Kun; Scheck, Joshua; Aldinger, Kimberly A; Sajan, Samin A; Tang, Sha; Bonneau, Dominique; Beck, Anita; White, Janson; Mahida, Sonal; Harris, Jacqueline; Smith-Hicks, Constance; Hoyer, Juliane; Zweier, Christiane; Reis, André; Thiel, Christian T; Jamra, Rami Abou; Zeid, Natasha; Yang, Amy; Farach, Laura S; Walsh, Laurence; Payne, Katelyn; Rohena, Luis; Velinov, Milen; Ziegler, Alban; Schaefer, Elise; Gatinois, Vincent; Geneviève, David; Simon, Marleen E H; Kohler, Jennefer; Rotenberg, Joshua; Wheeler, Patricia; Larson, Austin; Ernst, Michelle E; Akman, Cigdem I; Westman, Rachel; Blanchet, Patricia; Schillaci, Lori-Anne; Vincent-Delorme, Catherine; Gripp, Karen W; Mattioli, Francesca; Guyader, Gwenaël Le; Gerard, Bénédicte; Mathieu-Dramard, Michèle.
Afiliação
  • Mirzaa GM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA. ghayda.mirzaa@seattlechildrens.org.
  • Chong JX; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA. ghayda.mirzaa@seattlechildrens.org.
  • Piton A; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA. ghayda.mirzaa@seattlechildrens.org.
  • Popp B; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.
  • Foss K; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA.
  • Guo H; Molecular Genetic Unit, Strasbourg University Hospital, Strasbourg, France.
  • Harripaul R; Institute of Genetics and Molecular and Cellular Biology, Université de Strasbourg, Illkirch, France.
  • Xia K; Institute of Human Genetics, University Hospital Elrangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany.
  • Scheck J; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
  • Aldinger KA; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
  • Sajan SA; The Campbell Family Mental Health Research Institute, Centre for Addiction & Mental Health (CAMH), Toronto, ON, Canada.
  • Tang S; Institute of Medical Science, University of Toronto, Toronto, ON, Canada.
  • Bonneau D; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
  • Beck A; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
  • White J; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
  • Mahida S; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA.
  • Harris J; WuXi NextCODE, Cambridge, MA, USA.
  • Smith-Hicks C; Département de Biochimie et de Génétique, CHU d'Angers, Angers, France.
  • Hoyer J; UMR INSERM 1083 CNRS 6015, Angers, France.
  • Zweier C; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.
  • Reis A; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
  • Thiel CT; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.
  • Jamra RA; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.
  • Zeid N; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.
  • Yang A; Institute of Human Genetics, University Hospital Elrangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany.
  • Farach LS; Institute of Human Genetics, University Hospital Elrangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany.
  • Walsh L; Institute of Human Genetics, University Hospital Elrangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany.
  • Payne K; Institute of Human Genetics, University Hospital Elrangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany.
  • Rohena L; Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany.
  • Velinov M; Yale New Haven Health, New Haven, CT, USA.
  • Ziegler A; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.
  • Schaefer E; Department of Pediatrics, McGovern Medical School at the University of Texas Health Sciences Center, Houston, TX, USA.
  • Gatinois V; Indiana University Health at Riley Hospital for Children, Indianapolis, IN, USA.
  • Geneviève D; Indiana University Health at Riley Hospital for Children, Indianapolis, IN, USA.
  • Simon MEH; Division of Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, TX, USA.
  • Kohler J; Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX, USA.
  • Rotenberg J; New York State Institute for Basic Research in Developmental Disability, NY, Staten Island, USA.
  • Wheeler P; Département de Biochimie et de Génétique, CHU d'Angers, Angers, France.
  • Larson A; Service de Génétique Médicale, Centre hospitalier, Le Mans, France.
  • Ernst ME; Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Institut de Génétique Médicale d'Alsace, Strasbourg, France.
  • Akman CI; Service de génétique clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Strasbourg, France.
  • Westman R; Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Ouest Occitanie Réunion, Hôpital Arnaud de Villeneuve, Montpellier, France.
  • Blanchet P; Université Montpellier, Unité Inserm U1183, Montpellier, France.
  • Schillaci LA; Service de génétique clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Strasbourg, France.
  • Vincent-Delorme C; Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Ouest Occitanie Réunion, Hôpital Arnaud de Villeneuve, Montpellier, France.
  • Gripp KW; Université Montpellier, Unité Inserm U1183, Montpellier, France.
  • Mattioli F; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Guyader GL; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.
  • Gerard B; Memorial Hermann Memorial City Medical Center, Houston, TX, USA.
  • Mathieu-Dramard M; Arnold Palmer Hospital for Children, Orlando, FL, USA.
Genet Med ; 22(3): 538-546, 2020 03.
Article em En | MEDLINE | ID: mdl-31723249
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Transporte / Predisposição Genética para Doença / Transtornos do Neurodesenvolvimento / Transtorno do Espectro Autista / Proteínas do Tecido Nervoso Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Transporte / Predisposição Genética para Doença / Transtornos do Neurodesenvolvimento / Transtorno do Espectro Autista / Proteínas do Tecido Nervoso Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos