Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Year of publication

2020

Authors

MYO-SEQ Consortium; Toepf, Ana; Johnson, Katherine; Bates, Adam; Phillips, Lauren; Chao, Katherine R.; England, Eleina M.; Laricchia, Kristen M.; Mullen, Thomas; Valkanas, Elise; Xu, Liwen; Bertoli, Marta; Blain, Alison; Casasus, Ana B.; Duff, Jennifer; Mroczek, Magdalena; Specht, Sabine; Lek, Monkol; Ensini, Monica; MacArthur, Daniel G.

Organizations and authors

Helsinki University Hospital

Wallgren-Pettersson Carina

Strang-Karlsson Sonja

University of Turku

Lähdetie Jaana

University of Helsinki

Wallgren-Pettersson Carina

Strang-Karlsson Sonja

Publication type

Publication format

Article

Parent publication type

Journal

Article type

Original article

Audience

Scientific

Peer-reviewed

Peer-Reviewed

MINEDU's publication type classification code

A1 Journal article (refereed), original research

Publication channel information

Journal/Series

Genetics in medicine

Parent publication name

Genetics In medicine

Volume

Issue

Pages

1478-1488

ISSN

1098-3600

Publication forum

56522

Publication forum level

Open access

Open access in the publisher’s service

Yes

Open access of publication channel

Partially open publication channel

License of the publisher’s version

CC BY NC ND

Self-archived

Yes

Other information

Fields of science

General medicine, internal medicine and other clinical medicine; Gynaecology and paediatrics; Neurology and psychiatry

Keywords

[object Object],[object Object],[object Object],[object Object],[object Object]

Publication country

United States

Internationality of the publisher

International

Language

English

International co-publication

Yes

Co-publication with a company

DOI

10.1038/s41436-020-0840-3

The publication is included in the Ministry of Education and Culture’s Publication data collection

Yes