Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases

Christopher Grunseich; Nathan Sarkar; Joyce Lu; Mallory Owen; Alice Schindler; Peter A Calabresi; Charlotte J Sumner; Ricardo H Roda; Vinay Chaudhry; Thomas E Lloyd; Thomas O Crawford; S H Subramony; Shin J Oh; Perry Richardson; Kurenai Tanji; Justin Y Kwan; Kenneth H Fischbeck; Ami Mankodi

doi:10.1136/jnnp-2020-325437

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Neurogenetics

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Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases

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Christopher Grunseich Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA PubMed articles Google scholar articles
Nathan Sarkar Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA PubMed articles Google scholar articles
Joyce Lu Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA PubMed articles Google scholar articles
Mallory Owen Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA PubMed articles Google scholar articles
Alice Schindler Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA PubMed articles Google scholar articles
Peter A Calabresi Departments of Neurology and Neuroscience, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA PubMed articles Google scholar articles
Charlotte J Sumner Departments of Neurology and Neuroscience, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA PubMed articles Google scholar articles
Ricardo H Roda Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA PubMed articles Google scholar articles
Vinay Chaudhry Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA PubMed articles Google scholar articles
Thomas E Lloyd Departments of Neurology and Neuroscience, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA PubMed articles Google scholar articles
Thomas O Crawford Departments of Neurology and Neuroscience, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA PubMed articles Google scholar articles
S H Subramony Department of Neurology, University of Florida, Gainesville, Florida, USA PubMed articles Google scholar articles
Shin J Oh Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama, USA PubMed articles Google scholar articles
Perry Richardson Department of Neurology, George Washington University, Washington, District of Columbia, USA PubMed articles Google scholar articles
Kurenai Tanji Division of Neuropathology, Columbia University Medical Center, New York, New York, USA PubMed articles Google scholar articles
Justin Y Kwan Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA PubMed articles Google scholar articles
Kenneth H Fischbeck Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA PubMed articles Google scholar articles
Ami Mankodi Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA PubMed articles Google scholar articles

Correspondence to Dr Christopher Grunseich, Neurogenetics Branch, NINDS, Bethesda, Maryland, USA; christopher.grunseich{at}nih.gov; Dr Ami Mankodi; ami.mankodi{at}nih.gov

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Grunseich C, Sarkar N, Lu J, et al

Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases

Journal of Neurology, Neurosurgery & Psychiatry 2021;92:1186-1196.

Publication history

Received October 24, 2020
Revised April 10, 2021
Accepted May 5, 2021
First published June 8, 2021.

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October 13, 2021

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