Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Clinical and molecular significance of flow cytometric analysis for reactive oxygen species production and residual p67phox expression in p67phox-deficient chronic granulomatous disease.
Miyazawa H et al.
Scandinavian Journal of Immunology, 2024
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Identifying pathogenic variants related to systemic lupus erythematosus by integrating genomic databases and a bioinformatic approach.
Yudhani RD et al.
Genomics & Informatics, 2023
Novel loss-of-function mutations in TNFAIP3 gene in patients with lupus nephritis.
Zhang C et al.
Clinical Kidney Journal, 2022
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
Chan KW et al.
Frontiers in Immunology, 2022
Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses.
van Deuren RC et al.
Genome Medicine, 2021
Case Report: Symptomatic Chronic Granulomatous Disease in the Newborn.
Miladinovic M et al.
Frontiers in Immunology, 2021
Case Report: A Novel Missense Variant in the SIPA1L3 Gene Associated With Cataracts in a Chinese Family.
Yang D et al.
Frontiers in Genetics, 2021
Phenomic Analysis of Chronic Granulomatous Disease Reveals More Severe Integumentary Infections in X-Linked Compared With Autosomal Recessive Chronic Granulomatous Disease.
Chiu TL et al.
Frontiers in Immunology, 2021
Meta-analysis of genome-wide association study identifies FBN2 as a novel locus associated with systemic lupus erythematosus in Thai population.
Tangtanatakul P et al.
Arthritis Research & Therapy, 2020
Genetic Sequencing of Pediatric Patients Identifies Mutations in Monogenic Inflammatory Bowel Disease Genes that Translate to Distinct Clinical Phenotypes.
Ashton JJ et al.
Clinical and Translational Gastroenterology, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Clinical and Genomic Correlates of Neutrophil Reactive Oxygen Species Production in Pediatric Patients With Crohn's Disease.
Denson LA et al.
Gastroenterology, 2018
A Cohort of 169 Chronic Granulomatous Disease Patients Exposed to BCG Vaccination: a Retrospective Study from a Single Center in Shanghai, China (2004-2017).
Zhou Q et al.
Journal of Clinical Immunology, 2018
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Haploinsufficiency of NADPH Oxidase Subunit Neutrophil Cytosolic Factor 2 Is Sufficient to Accelerate Full-Blown Lupus in NZM 2328 Mice.
Jacob CO et al.
Arthritis & Rheumatology (hoboken, N.j.), 2017
A novel mutation in NCF2 associated with autoimmune disease and a solitary late-onset infection.
Chou J et al.
Clinical Immunology (orlando, Fla.), 2015
Systemic lupus erythematosus-associated neutrophil cytosolic factor 2 mutation affects the structure of NADPH oxidase complex.
Armstrong DL et al.
The Journal of Biological Chemistry, 2015
Widespread macromolecular interaction perturbations in human genetic disorders.
Sahni N et al.
Cell, 2015
Allelic heterogeneity in NCF2 associated with systemic lupus erythematosus (SLE) susceptibility across four ethnic populations.
Kim-Howard X et al.
Human Molecular Genetics, 2014
Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.
Rodriguez-Flores JL et al.
Human Mutation, 2014
Diagnostics of primary immunodeficiency diseases: a sequencing capture approach.
Moens LN et al.
Plos One, 2014
Rapid detection of intracellular p47phox and p67phox by flow cytometry; useful screening tests for chronic granulomatous disease.
Wada T et al.
Journal of Clinical Immunology, 2013
Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).
Roos D et al.
Blood Cells, Molecules & Diseases, 2010
Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations.
Köker MY et al.
European Journal of Clinical Investigation, 2009
Focus on FOCIS: the continuing diagnostic challenge of autosomal recessive chronic granulomatous disease.
Yu G et al.
Clinical Immunology (orlando, Fla.), 2008
Sequencing, expression, and functional analyses support the candidacy of Ncf2 in susceptibility to Salmonella typhimurium infection in wild-derived mice.
Sancho-Shimizu V et al.
Journal of Immunology (baltimore, Md. : 1950), 2006
PB1 domain-mediated heterodimerization in NADPH oxidase and signaling complexes of atypical protein kinase C with Par6 and p62.
Wilson MI et al.
Molecular Cell, 2003