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

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2. Clinical Neurology and Epidemiology of the Major Neurodegenerative Diseases

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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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