Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders-Reference-Cited by-同舟云学术

Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders

Published:2023-06 Issue:3 Volume:9 Page:
ISSN:2376-7839
Container-title:Neurology Genetics
language:en
Short-container-title:Neurol Genet

Author:

Schuermans Nika¹,Verdin Hannah¹^ORCID,Ghijsels Jody¹,Hellemans Madeleine¹,Debackere Elke¹,Bogaert Elke¹,Symoens Sofie¹,Naesens Leslie¹,Lecomte Elien¹,Crosiers David¹,Bergmans Bruno¹^ORCID,Verhoeven Kristof¹,Poppe Bruce¹,Laureys Guy¹^ORCID,Herdewyn Sarah¹,Van Langenhove Tim¹,Santens Patrick¹,De Bleecker Jan L.¹,Hemelsoet Dimitri¹^ORCID,Dermaut Bart¹^ORCID,Callens Steven,Terryn Wim,Verloo Patrick,Vanlander Arnaud V., ,

Affiliation:

1. From the Center for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes...

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),Neurology (clinical)

Link

https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000200071

Reference51 articles.

1. Global, regional, and national burden of neurological disorders, 1990–2016: a systematic analysis for the Global Burden of Disease Study 2016

2. Clinical Neurology and Epidemiology of the Major Neurodegenerative Diseases

3. The clinical utility of exome and genome sequencing across clinical indications: a systematic review

4. Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients

5. PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels

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