Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability

Genay O Pilarowski; Hilary J Vernon; Carolyn D Applegate; Leandros Boukas; Megan T Cho; Christina A Gurnett; Paul J Benke; Erin Beaver; Jennifer M Heeley; Livija Medne; Ian D Krantz; Meron Azage; Dmitriy Niyazov; Lindsay B Henderson; Ingrid M Wentzensen; Berivan Baskin; Maria J Guillen Sacoto; Gregory D Bowman; Hans T Bjornsson

doi:10.1136/jmedgenet-2017-104759

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New disease loci

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Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability

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Genay O Pilarowski 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 PubMed articles Google scholar articles
Hilary J Vernon 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 PubMed articles Google scholar articles
Carolyn D Applegate McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA PubMed articles Google scholar articles
Leandros Boukas 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 PubMed articles Google scholar articles
Megan T Cho GeneDx, Gaithersburg, Maryland, USA PubMed articles Google scholar articles
Christina A Gurnett Department of Neurology, Division of Pediatric Neurology, Washington University School of Medicine, Saint Louis, Missouri, USA PubMed articles Google scholar articles
Paul J Benke Joe DiMaggio Children’s Hospital, Florida Atlantic School of Medicine, Hollywood, Florida, USA PubMed articles Google scholar articles
Erin Beaver Mercy Kids Genetics, Mercy Hospital, Saint Louis, Missouri, USA PubMed articles Google scholar articles
Jennifer M Heeley Mercy Kids Genetics, Mercy Hospital, Saint Louis, Missouri, USA PubMed articles Google scholar articles
Livija Medne Division of Human Genetics, Department of Pediatrics, Individualized Medical Genetics Center, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA PubMed articles Google scholar articles
Ian D Krantz Division of Human Genetics, Department of Pediatrics, Individualized Medical Genetics Center, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA PubMed articles Google scholar articles
Meron Azage Department of Pediatrics, Ochsner Clinic, New Orleans, Louisiana, USA PubMed articles Google scholar articles
Dmitriy Niyazov Department of Pediatrics, Ochsner Clinic, New Orleans, Louisiana, USA PubMed articles Google scholar articles
Lindsay B Henderson GeneDx, Gaithersburg, Maryland, USA PubMed articles Google scholar articles
Ingrid M Wentzensen GeneDx, Gaithersburg, Maryland, USA PubMed articles Google scholar articles
Berivan Baskin GeneDx, Gaithersburg, Maryland, USA PubMed articles Google scholar articles
Maria J Guillen Sacoto GeneDx, Gaithersburg, Maryland, USA PubMed articles Google scholar articles
Gregory D Bowman T.C. Jenkins Department of Biophysics, Johns Hopkins University, Baltimore, Maryland, USA Department of Biology, Johns Hopkins University, Baltimore, Maryland, USA PubMed articles Google scholar articles
Hans T Bjornsson 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 PubMed articles Google scholar articles

Correspondence to Dr Hans T Bjornsson, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, 733 N Broadway, MRB 435, Baltimore, MD 21205, USA; hbjorns1{at}jhmi.edu

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Citation

Pilarowski GO, Vernon HJ, Applegate CD, et al

Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability

Journal of Medical Genetics 2018;55:561-566.

Publication history

Received April 27, 2017
Revised July 7, 2017
Accepted August 4, 2017
First published September 2, 2017.

Online issue publication

July 24, 2018

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