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ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.
Bruel, Ange-Line; Vitobello, Antonio; Thiffault, Isabelle; Manwaring, Linda; Willing, Marcia; Agrawal, Pankaj B; Bayat, Allan; Kitzler, Thomas M; Brownstein, Catherine A; Genetti, Casie A; Gonzalez-Heydrich, Joseph; Jayakar, Parul; Zyskind, Jacob W; Zhu, Zehua; Vachet, Clemence; Wilson, Gena R; Pruniski, Brianna; Goyette, Anne-Marie; Duffourd, Yannis; Thauvin-Robinet, Christel; Philippe, Christophe; Faivre, Laurence.
Afiliação
  • Bruel AL; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France. ange-line.bruel@u-bourgogne.fr.
  • Vitobello A; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France. ange-line.bruel@u-bourgogne.fr.
  • Thiffault I; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.
  • Manwaring L; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
  • Willing M; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, USA.
  • Agrawal PB; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.
  • Bayat A; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.
  • Kitzler TM; Divisions of Newborn Medicine, Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
  • Brownstein CA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
  • Genetti CA; Department of Genetics and Precision Medicine, Danish Epilepsy Centre, Dianalund, Denmark.
  • Gonzalez-Heydrich J; Research Institute, McGill University Health Centre, Montreal, QC, Canada.
  • Jayakar P; Division of Medical Genetics, Department of Medicine, McGill University Health Centre, Montreal, QC, Canada.
  • Zyskind JW; Department of Human Genetics, McGill University, Montreal, QC, Canada.
  • Zhu Z; Divisions of Newborn Medicine, Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
  • Vachet C; Divisions of Newborn Medicine, Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
  • Wilson GR; Department of Psychiatry, Boston Children's Hospital, Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
  • Pruniski B; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL, USA.
  • Goyette AM; GeneDX, Gaitherburg, MD, USA.
  • Duffourd Y; GeneDX, Gaitherburg, MD, USA.
  • Thauvin-Robinet C; Service de néphrologie pédiatrique, Centre Hospitalier Régional Universitaire Besançon, Besançon, France.
  • Philippe C; Division of Genetics and Metabolism, Phoenix Children's Medical Group, Phoenix, AZ, USA.
  • Faivre L; Division of Genetics and Metabolism, Phoenix Children's Medical Group, Phoenix, AZ, USA.
Eur J Hum Genet ; 30(1): 111-116, 2022 01.
Article em En | MEDLINE | ID: mdl-34707297
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Proteínas Adaptadoras de Transporte Vesicular / Epilepsia / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Humans / Male Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Proteínas Adaptadoras de Transporte Vesicular / Epilepsia / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Humans / Male Idioma: En Ano de publicação: 2022 Tipo de documento: Article