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3 articles related to "Whole Exome Sequencing4"

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Articles

Original Research

Published on 01 Sep 2022

Hemizygous nonsense variant in the moesin gene (MSN) leads to a new autoimmune phenotype of Immunodeficiency 50

in Primary Immunodeficiencies

András L. Kovács
Judit Kárteszi
Zoltán Prohászka
Tibor Kalmár
Gábor Késmárky
Katalin Koltai
Zsuzsanna Nagy
Judit Sebők
Tibor Vas
Krisztián Molnár

Frontiers in Immunology

doi 10.3389/fimmu.2022.919411

6,713 views
16 citations

Original Research

Published on 13 Jul 2022

Genetic Diagnostic Yield and Novel Causal Genes of Congenital Heart Disease

in Computational Genomics

Meihua Tan
Xinrui Wang
Hongjie Liu
Xiaoyan Peng
You Yang
Haifei Yu
Liangpu Xu
Jia Li
Hua Cao

Frontiers in Genetics

doi 10.3389/fgene.2022.941364

8,060 views
17 citations

Review

Published on 07 Feb 2018

Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes

in Genomic Assay Technology

Paul Dunn
Cassie L. Albury
Neven Maksemous
Miles C. Benton
Heidi G. Sutherland
Robert A. Smith
Larisa M. Haupt
Lyn R. Griffiths

Frontiers in Genetics

doi 10.3389/fgene.2018.00020

53,768 views
126 citations