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Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis

Year of publication

2024

Authors

Vorsteveld, Emil E; Van der Made, Caspar I; Smeekens, Sanne P; Schuurs-Hoeijmakers, Janneke H; Astuti, Galuh; Diepstra, Heleen; Gilissen, Christian; Hoenselaar, Evelien; Janssen, Alice; van Roozendaal, Kees; Engelen, Jettie Sikkema-van; Steyaert, Wouter; Weiss, Marjan M; Yntema, Helger G; Mantere, Tuomo; AlZahrani, Mofareh S; van Aerde, Koen; Derfalvi, Beata; Faqeih, Eissa Ali; Henriet, Stefanie S V
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Organizations and authors

University of Oulu

Mantere Tuomo

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

Clinical immunology

Publisher

Elsevier

Article number

110375

ISSN

1521-6616

​Publication forum

53588

​Publication forum level

1

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

Self-archived

Yes

License of the self-archived publication

CC BY

Other information

Fields of science

General medicine, internal medicine and other clinical medicine

Keywords

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

No

DOI

10.1016/j.clim.2024.110375

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

Yes