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De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.
Dulovic-Mahlow, Marija; Trinh, Joanne; Kandaswamy, Krishna Kumar; Braathen, Geir Julius; Di Donato, Nataliya; Rahikkala, Elisa; Beblo, Skadi; Werber, Martin; Krajka, Victor; Busk, Øyvind L; Baumann, Hauke; Al-Sannaa, Nouriya Abbas; Hinrichs, Frauke; Affan, Rabea; Navot, Nir; Al Balwi, Mohammed A; Oprea, Gabriela; Holla, Øystein L; Weiss, Maximilian E R; Jamra, Rami A; Kahlert, Anne-Karin; Kishore, Shivendra; Tveten, Kristian; Vos, Melissa; Rolfs, Arndt; Lohmann, Katja.
Afiliação
  • Dulovic-Mahlow M; Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany.
  • Trinh J; Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany.
  • Kandaswamy KK; Centogene AG, 18055 Rostock, Germany.
  • Braathen GJ; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.
  • Di Donato N; Institute of Clinical Genetics, Technical University of Dresden, Dresden, Germany.
  • Rahikkala E; Research Unit for Pediatrics, Pediatric Neurology, Pediatric Surgery, Child Psychiatry, Dermatology, Clinical Genetics, Obstetrics and Gynecology, Otorhinolaryngology and Ophthalmology (PEDEGO Research Unit) and Medical Research Center Oulu, University of Oulu and Oulu University Hospital, 90029 OYS
  • Beblo S; Institute of Human Genetics, University Hospital Leipzig, 04103 Leipzig, Germany; Center for Pediatric Research Leipzig, Department of Women and Child Health, Hospital for Children and Adolescents, University Hospitals, 04103 Leipzig, Germany.
  • Werber M; Centogene AG, 18055 Rostock, Germany.
  • Krajka V; Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany.
  • Busk ØL; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.
  • Baumann H; Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany.
  • Al-Sannaa NA; Department of Pediatric Services, Johns Hopkins Aramco Health Care, 34465 Dharan, Saudi Arabia.
  • Hinrichs F; Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany.
  • Affan R; Pronto Diagnostics, 6158002 Tel Aviv, Israel.
  • Navot N; Pronto Diagnostics, 6158002 Tel Aviv, Israel.
  • Al Balwi MA; Department of Pathology and Laboratory Medicine, College of Medicine, King Saud bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center, King Abdulaziz Medical City, 11426 Riyadh, Saudi Arabia.
  • Oprea G; Centogene AG, 18055 Rostock, Germany.
  • Holla ØL; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.
  • Weiss MER; Centogene AG, 18055 Rostock, Germany.
  • Jamra RA; Institute of Human Genetics, University Hospital Leipzig, 04103 Leipzig, Germany.
  • Kahlert AK; Institute of Clinical Genetics, Technical University of Dresden, Dresden, Germany.
  • Kishore S; Centogene AG, 18055 Rostock, Germany.
  • Tveten K; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.
  • Vos M; Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany.
  • Rolfs A; Centogene AG, 18055 Rostock, Germany; University of Rostock, 18147 Rostock, Germany.
  • Lohmann K; Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany. Electronic address: katja.lohmann@neuro.uni-luebeck.de.
Am J Hum Genet ; 105(1): 213-220, 2019 07 03.
Article em En | MEDLINE | ID: mdl-31230721
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Serina-Treonina Quinases / Drosophila melanogaster / Exoma / Transtornos do Neurodesenvolvimento / Mutação Limite: Animals / Child / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Serina-Treonina Quinases / Drosophila melanogaster / Exoma / Transtornos do Neurodesenvolvimento / Mutação Limite: Animals / Child / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article