Your browser doesn't support javascript.
loading
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
Geisheker, Madeleine R; Heymann, Gabriel; Wang, Tianyun; Coe, Bradley P; Turner, Tychele N; Stessman, Holly A F; Hoekzema, Kendra; Kvarnung, Malin; Shaw, Marie; Friend, Kathryn; Liebelt, Jan; Barnett, Christopher; Thompson, Elizabeth M; Haan, Eric; Guo, Hui; Anderlid, Britt-Marie; Nordgren, Ann; Lindstrand, Anna; Vandeweyer, Geert; Alberti, Antonino; Avola, Emanuela; Vinci, Mirella; Giusto, Stefania; Pramparo, Tiziano; Pierce, Karen; Nalabolu, Srinivasa; Michaelson, Jacob J; Sedlacek, Zdenek; Santen, Gijs W E; Peeters, Hilde; Hakonarson, Hakon; Courchesne, Eric; Romano, Corrado; Kooy, R Frank; Bernier, Raphael A; Nordenskjöld, Magnus; Gecz, Jozef; Xia, Kun; Zweifel, Larry S; Eichler, Evan E.
Afiliación
  • Geisheker MR; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
  • Heymann G; Department of Pharmacology, University of Washington, Seattle, Washington, USA.
  • Wang T; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, USA.
  • Coe BP; The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
  • Turner TN; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
  • Stessman HAF; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
  • Hoekzema K; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
  • Kvarnung M; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
  • Shaw M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Friend K; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Liebelt J; Robinson Research Institute and the University of Adelaide at the Women's and Children's Hospital, North Adelaide, South Australia, Australia.
  • Barnett C; Robinson Research Institute and the University of Adelaide at the Women's and Children's Hospital, North Adelaide, South Australia, Australia.
  • Thompson EM; SA Pathology, Adelaide, South Australia, Australia.
  • Haan E; South Australian Clinical Genetics Service, SA Pathology (at Women's and Children's Hospital), Adelaide, South Australia, Australia.
  • Guo H; South Australian Clinical Genetics Service, SA Pathology (at Women's and Children's Hospital), Adelaide, South Australia, Australia.
  • Anderlid BM; School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australia.
  • Nordgren A; South Australian Clinical Genetics Service, SA Pathology (at Women's and Children's Hospital), Adelaide, South Australia, Australia.
  • Lindstrand A; School of Medicine, University of Adelaide, Adelaide, South Australia, Australia.
  • Vandeweyer G; South Australian Clinical Genetics Service, SA Pathology (at Women's and Children's Hospital), Adelaide, South Australia, Australia.
  • Alberti A; School of Medicine, University of Adelaide, Adelaide, South Australia, Australia.
  • Avola E; The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
  • Vinci M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Giusto S; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Pramparo T; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Pierce K; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Nalabolu S; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Michaelson JJ; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Sedlacek Z; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
  • Santen GWE; Unit of Pediatrics &Medical Genetics, IRCCS Associazione Oasi Maria Santissima, Troina, Italy.
  • Peeters H; Unit of Pediatrics &Medical Genetics, IRCCS Associazione Oasi Maria Santissima, Troina, Italy.
  • Hakonarson H; Laboratory of Medical Genetics, IRCCS Associazione Oasi Maria Santissima, Troina, Italy.
  • Courchesne E; Unit of Neurology, IRCCS Associazione Oasi Maria Santissima, Troina, Italy.
  • Romano C; University of California, San Diego, Autism Center of Excellence, La Jolla, California, USA.
  • Kooy RF; University of California, San Diego, Autism Center of Excellence, La Jolla, California, USA.
  • Bernier RA; University of California, San Diego, Autism Center of Excellence, La Jolla, California, USA.
  • Nordenskjöld M; Department of Psychiatry, The University of Iowa, Iowa City, Iowa, USA.
  • Gecz J; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
  • Xia K; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
  • Zweifel LS; Centre for Human Genetics, KU Leuven and Leuven Autism Research, Leuven, Belgium.
  • Eichler EE; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Nat Neurosci ; 20(8): 1043-1051, 2017 Aug.
Article en En | MEDLINE | ID: mdl-28628100
Asunto(s)
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastorno Autístico / Secuencia de Aminoácidos / Predisposición Genética a la Enfermedad / Mutación Missense / Exoma Límite: Female / Humans / Male Idioma: En Revista: Nat Neurosci Asunto de la revista: NEUROLOGIA Año: 2017 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastorno Autístico / Secuencia de Aminoácidos / Predisposición Genética a la Enfermedad / Mutación Missense / Exoma Límite: Female / Humans / Male Idioma: En Revista: Nat Neurosci Asunto de la revista: NEUROLOGIA Año: 2017 Tipo del documento: Article País de afiliación: Estados Unidos