Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.
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| Title: | Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability. |
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| Authors: | Pilarowski GO; Predoctoral Program in Human Genetics, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA., Vernon HJ; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA.; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Department of Pediatrics, Johns Hopkins University, School of Medicine, Baltimore, Maryland, USA., Applegate CD; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA., Boukas L; Predoctoral Program in Human Genetics, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA., Cho MT; GeneDx, Gaithersburg, Maryland, USA., Gurnett CA; Department of Neurology, Division of Pediatric Neurology, Washington University School of Medicine, Saint Louis, Missouri, USA., Benke PJ; Joe DiMaggio Children's Hospital, Florida Atlantic School of Medicine, Hollywood, Florida, USA., Beaver E; Mercy Kids Genetics, Mercy Hospital, Saint Louis, Missouri, USA., Heeley JM; Mercy Kids Genetics, Mercy Hospital, Saint Louis, Missouri, USA., Medne L; Division of Human Genetics, Department of Pediatrics, Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Krantz ID; Division of Human Genetics, Department of Pediatrics, Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Azage M; Department of Pediatrics, Ochsner Clinic, New Orleans, Louisiana, USA., Niyazov D; Department of Pediatrics, Ochsner Clinic, New Orleans, Louisiana, USA., Henderson LB; GeneDx, Gaithersburg, Maryland, USA., Wentzensen IM; GeneDx, Gaithersburg, Maryland, USA., Baskin B; GeneDx, Gaithersburg, Maryland, USA., Sacoto MJG; GeneDx, Gaithersburg, Maryland, USA., Bowman GD; T.C. Jenkins Department of Biophysics, Johns Hopkins University, Baltimore, Maryland, USA.; Department of Biology, Johns Hopkins University, Baltimore, Maryland, USA., Bjornsson HT; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA.; Department of Pediatrics, Johns Hopkins University, School of Medicine, Baltimore, Maryland, USA.; Faculty of Medicine, University of Iceland, Reykjavik, Iceland. |
| Source: | Journal of medical genetics [J Med Genet] 2018 Aug; Vol. 55 (8), pp. 561-566. Date of Electronic Publication: 2017 Sep 02. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural |
| Journal Info: | Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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