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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.
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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  Data: Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.
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  Data: <searchLink fieldCode="AU" term="%22Pilarowski+GO%22">Pilarowski GO</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Vernon+HJ%22">Vernon HJ</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Applegate+CD%22">Applegate CD</searchLink>; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Boukas+L%22">Boukas L</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Cho+MT%22">Cho MT</searchLink>; GeneDx, Gaithersburg, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Gurnett+CA%22">Gurnett CA</searchLink>; Department of Neurology, Division of Pediatric Neurology, Washington University School of Medicine, Saint Louis, Missouri, USA.<br /><searchLink fieldCode="AU" term="%22Benke+PJ%22">Benke PJ</searchLink>; Joe DiMaggio Children's Hospital, Florida Atlantic School of Medicine, Hollywood, Florida, USA.<br /><searchLink fieldCode="AU" term="%22Beaver+E%22">Beaver E</searchLink>; Mercy Kids Genetics, Mercy Hospital, Saint Louis, Missouri, USA.<br /><searchLink fieldCode="AU" term="%22Heeley+JM%22">Heeley JM</searchLink>; Mercy Kids Genetics, Mercy Hospital, Saint Louis, Missouri, USA.<br /><searchLink fieldCode="AU" term="%22Medne+L%22">Medne L</searchLink>; Division of Human Genetics, Department of Pediatrics, Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Krantz+ID%22">Krantz ID</searchLink>; Division of Human Genetics, Department of Pediatrics, Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Azage+M%22">Azage M</searchLink>; Department of Pediatrics, Ochsner Clinic, New Orleans, Louisiana, USA.<br /><searchLink fieldCode="AU" term="%22Niyazov+D%22">Niyazov D</searchLink>; Department of Pediatrics, Ochsner Clinic, New Orleans, Louisiana, USA.<br /><searchLink fieldCode="AU" term="%22Henderson+LB%22">Henderson LB</searchLink>; GeneDx, Gaithersburg, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Wentzensen+IM%22">Wentzensen IM</searchLink>; GeneDx, Gaithersburg, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Baskin+B%22">Baskin B</searchLink>; GeneDx, Gaithersburg, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Sacoto+MJG%22">Sacoto MJG</searchLink>; GeneDx, Gaithersburg, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Bowman+GD%22">Bowman GD</searchLink>; T.C. Jenkins Department of Biophysics, Johns Hopkins University, Baltimore, Maryland, USA.; Department of Biology, Johns Hopkins University, Baltimore, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Bjornsson+HT%22">Bjornsson HT</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%222985087R%22">Journal of medical genetics</searchLink> [J Med Genet] 2018 Aug; Vol. 55 (8), pp. 561-566. <i>Date of Electronic Publication: </i>2017 Sep 02.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22British+Medical+Association%22">British Medical Association </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>2985087R <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1468-6244 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200222593%22">00222593 </searchLink><i>NLM ISO Abbreviation: </i>J Med Genet <i>Subsets: </i>MEDLINE
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        Value: 10.1136/jmedgenet-2017-104759
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        Text: English
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              Text: 2018 Aug
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