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Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
Guo, Hui; Bettella, Elisa; Marcogliese, Paul C; Zhao, Rongjuan; Andrews, Jonathan C; Nowakowski, Tomasz J; Gillentine, Madelyn A; Hoekzema, Kendra; Wang, Tianyun; Wu, Huidan; Jangam, Sharayu; Liu, Cenying; Ni, Hailun; Willemsen, Marjolein H; van Bon, Bregje W; Rinne, Tuula; Stevens, Servi J C; Kleefstra, Tjitske; Brunner, Han G; Yntema, Helger G; Long, Min; Zhao, Wenjing; Hu, Zhengmao; Colson, Cindy; Richard, Nicolas; Schwartz, Charles E; Romano, Corrado; Castiglia, Lucia; Bottitta, Maria; Dhar, Shweta U; Erwin, Deanna J; Emrick, Lisa; Keren, Boris; Afenjar, Alexandra; Zhu, Baosheng; Bai, Bing; Stankiewicz, Pawel; Herman, Kristin; Mercimek-Andrews, Saadet; Juusola, Jane; Wilfert, Amy B; Abou Jamra, Rami; Büttner, Benjamin; Mefford, Heather C; Muir, Alison M; Scheffer, Ingrid E; Regan, Brigid M; Malone, Stephen; Gecz, Jozef; Cobben, Jan.
Afiliação
  • Guo H; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA.
  • Bettella E; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, 410078, Changsha, Hunan, China.
  • Marcogliese PC; Laboratory of Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padua, Via Giustiniani 3, 35128, Padua, Italy.
  • Zhao R; Fondazione Istituto di Ricerca Pediatrica Città della Speranza, Corso Stati Uniti 4, 35129, Padua, Italy.
  • Andrews JC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Nowakowski TJ; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, 77030, USA.
  • Gillentine MA; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, 410078, Changsha, Hunan, China.
  • Hoekzema K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Wang T; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, 77030, USA.
  • Wu H; UCSF Department of Anatomy, University of California, San Francisco, San Francisco, CA, 94143, USA.
  • Jangam S; UCSF Department of Psychiatry, University of California, San Francisco, San Francisco, CA, 94143, USA.
  • Liu C; UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, 94158, USA.
  • Ni H; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA.
  • Willemsen MH; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA.
  • van Bon BW; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA.
  • Rinne T; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, 410078, Changsha, Hunan, China.
  • Stevens SJC; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, 410078, Changsha, Hunan, China.
  • Kleefstra T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Brunner HG; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, 77030, USA.
  • Yntema HG; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, 410078, Changsha, Hunan, China.
  • Long M; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, 410078, Changsha, Hunan, China.
  • Zhao W; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.
  • Hu Z; Department of Clinical Genetics, Maastricht University Medical Center, 6202 AZ, Maastricht, The Netherlands.
  • Colson C; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.
  • Richard N; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.
  • Schwartz CE; Department of Clinical Genetics, Maastricht University Medical Center, 6202 AZ, Maastricht, The Netherlands.
  • Romano C; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.
  • Castiglia L; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.
  • Bottitta M; Department of Clinical Genetics, Maastricht University Medical Center, 6202 AZ, Maastricht, The Netherlands.
  • Dhar SU; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.
  • Erwin DJ; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, 410078, Changsha, Hunan, China.
  • Emrick L; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, 410078, Changsha, Hunan, China.
  • Keren B; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, 410078, Changsha, Hunan, China.
  • Afenjar A; Normandie Univ, UNICAEN, CHU de Caen Normandie, Department of Genetics, EA7450 BioTARGen, 14000, Caen, France.
  • Zhu B; Normandie Univ, UNICAEN, CHU de Caen Normandie, Department of Genetics, EA7450 BioTARGen, 14000, Caen, France.
  • Bai B; Greenwood Genetic Center, Greenwood, SC, 29646, USA.
  • Stankiewicz P; Oasi Research Institute-IRCCS, 94108, Troina, Italy.
  • Herman K; Oasi Research Institute-IRCCS, 94108, Troina, Italy.
  • Mercimek-Andrews S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Juusola J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Wilfert AB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Abou Jamra R; Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75013, Paris, France.
  • Büttner B; APHP, Centre de référence des malformations et maladies congénitales du cervelet Département de génétique et embryologie médicale, GRCn°19, pathologies Congénitales du Cervelet-LeucoDystrophies, AP-HP, Hôpital Armand Trousseau, F-75012, Paris, France.
  • Mefford HC; Department of Pediatrics, The First People's Hospital of Yunnan Province, 650032, Kunming, Yunnan, China.
  • Muir AM; Medical Faculty, Kunming University of Science and Technology, 650032, Kunming, Yunnan, China.
  • Scheffer IE; Department of Pediatrics, The First People's Hospital of Yunnan Province, 650032, Kunming, Yunnan, China.
  • Regan BM; Medical Faculty, Kunming University of Science and Technology, 650032, Kunming, Yunnan, China.
  • Malone S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Gecz J; Section of Medical Genomics, Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento, CA, 95817, USA.
Nat Commun ; 10(1): 4679, 2019 10 15.
Article em En | MEDLINE | ID: mdl-31616000
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas / Transtornos do Neurodesenvolvimento / Transtornos Mentais / Proteínas do Tecido Nervoso Tipo de estudo: Diagnostic_studies / Risk_factors_studies Idioma: En Revista: Nat Commun Assunto da revista: BIOLOGIA / CIENCIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Reino Unido
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas / Transtornos do Neurodesenvolvimento / Transtornos Mentais / Proteínas do Tecido Nervoso Tipo de estudo: Diagnostic_studies / Risk_factors_studies Idioma: En Revista: Nat Commun Assunto da revista: BIOLOGIA / CIENCIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Reino Unido