Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder.

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Title: Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder.
Authors: Hunter JM; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio 43205, USA., Massingham LJ; Division of Medical Genetics, Department of Pediatrics, Hasbro Children's Hospital, Providence, Rhode Island 02903, USA.; Alpert School of Medicine at Brown University, Providence, Rhode Island 02903, USA., Manickam K; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio 43205, USA.; Division of Genetic and Genomic Medicine., Bartholomew D; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio 43205, USA.; Division of Genetic and Genomic Medicine., Williamson RK; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Schwab JL; Division of Medical Genetics, Department of Pediatrics, Hasbro Children's Hospital, Providence, Rhode Island 02903, USA., Marhabaie M; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Siemon A; Division of Genetic and Genomic Medicine., de Los Reyes E; Division of Neurology, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Reshmi SC; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio 43205, USA., Cottrell CE; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio 43205, USA., Wilson RK; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio 43205, USA., Koboldt DC; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio 43205, USA.
Source: Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2022 Mar 24; Vol. 8 (2). Date of Electronic Publication: 2022 Mar 24 (Print Publication: 2022).
Publication Type: Journal Article
Journal Info: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 101660017 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2373-2873 (Electronic) Linking ISSN: 23732873 NLM ISO Abbreviation: Cold Spring Harb Mol Case Stud Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2373-2873
DOI:10.1101/mcs.a006180