Genetic diagnosis of autoinflammatory disease patients using clinical exome sequencing-Reference-Cited by-同舟云学术

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Genetic diagnosis of autoinflammatory disease patients using clinical exome sequencing

Published:2020-05 Issue:5 Volume:63 Page:103920
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Batlle-Masó Laura,Mensa-Vilaró Anna,Solís-Moruno Manuel,Marquès-Bonet Tomàs,Arostegui Juan I.,Casals Ferran

Funder

Agencia Estatal de Investigación

Generalitat de Catalunya

Ministerio de Ciencia, Innovación y Universidades

Instituto de Salud Carlos III

Ministerio de Economía y Competitividad

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference64 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat. Methods,2010

2. Functional genetic variation in NFKBIA and susceptibility to childhood asthma, bronchiolitis, and bronchopulmonary dysplasia;Ali;J. Immunol.,2013

3. Monogenic autoinflammatory diseases: concept and clinical manifestations;Almeida de Jesus;Clin. Immunol.,2013

4. Clinical implications of digenic inheritance and epistasis in primary immunodeficiency disorders;Ameratunga;Front. Immunol.,2018

5. Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies;Arts;Genome Med.,2019

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