Associated Papers
Expanding the spectrum of epidermodysplasia verruciformis: mutations linked to primary immunodeficiency disorders.
Sharma A et al.
Clinical and Experimental Dermatology, 2025
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
Yuan B et al.
Genome Medicine, 2022
36180924 (PubMed )
Supplement: 13073_2022_1113_MOESM1_ESM.xlsx › Table_S6
Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing.
Ono S et al.
International Journal of Hematology, 2018
Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.
Yu H et al.
The Journal of Allergy and Clinical Immunology, 2016
The expanding spectrum of human coronin 1A deficiency.
Moshous D et al.
Current Allergy and Asthma Reports, 2014
Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy.
Stray-Pedersen A et al.
Journal of Clinical Immunology, 2014
Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation.
Moshous D et al.
The Journal of Allergy and Clinical Immunology, 2013
The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency.
Shiow LR et al.
Nature Immunology, 2008
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