Associated Papers
Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.
Ghorbanpour A et al.
Molecular Medicine (cambridge, Mass.), 2026
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
41374957 (PubMed )
Supplement: cancers-17-03756-s001.zip › Table_S4a.xlsx › Table_S4a
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
32463623 (PubMed )
Supplement: ct9-11-e00129-s005.docx
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
31813827 (PubMed )
Supplement: mmc3.xlsx › SNVs
Clinical and Genomic Correlates of Neutrophil Reactive Oxygen Species Production in Pediatric Patients With Crohn's Disease.
Denson LA et al.
Gastroenterology, 2018
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
27535533 (PubMed )
Supplement: NIHMS798561-supplement-supp_table20.xlsx › SI_Table_20
Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.
van Schouwenburg PA et al.
Clinical Immunology (orlando, Fla.), 2015
26122175 (PubMed )
Supplement: NIHMS64345-supplement-Supplementary_tables.xlsx › Table_S5
Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.
Samorodnitsky E et al.
Human Mutation, 2015
26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00010-Table_S13.xlsx › Sheet1
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
Genetics and immunopathology of chronic granulomatous disease.
Stasia MJ et al.
Seminars in Immunopathology, 2008
Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia.
El Kares R et al.
Journal of Human Genetics, 2006
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