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

Article info

PDF

PDF +
Supplementary
Material

Neurogenetics

Original research

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

Authors

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

View Full Text

Citation

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.

Online issue publication

May 04, 2023

Article Versions

Previous version (8 January 2022).
Previous version (8 January 2022).
Previous version (10 January 2022).
Previous version (10 January 2022).
You are viewing the most recent version of this article.

Supplementary Data

This web only file has been produced by the BMJ Publishing Group from an electronic file supplied by the author(s) and has not been edited for content.

Data supplement 1
Data supplement 2
Data supplement 3
Supplementary Data

This web only file has been produced by the BMJ Publishing Group from an electronic file supplied by the author(s) and has not been edited for content.

Data supplement 1
Data supplement 2
Data supplement 3
Supplementary Data

This web only file has been produced by the BMJ Publishing Group from an electronic file supplied by the author(s) and has not been edited for content.

Data supplement 1
Data supplement 2
Data supplement 3
Supplementary Data

This web only file has been produced by the BMJ Publishing Group from an electronic file supplied by the author(s) and has not been edited for content.

Data supplement 1
Data supplement 2
Data supplement 3
Supplementary Data

This web only file has been produced by the BMJ Publishing Group from an electronic file supplied by the author(s) and has not been edited for content.

Data supplement 1
Data supplement 2
Data supplement 3

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Copyright information

© Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY. Published by BMJ. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.

Log in using your username and password

Main menu

Log in using your username and password

You are here

Authors

Citation

Publication history

Article Versions

Supplementary Data

Supplementary Data

Supplementary Data

Supplementary Data

Supplementary Data

Request permissions

Copyright information

Read the full text or download the PDF:

Log in using your username and password