Associated Papers
Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.
Ghorbanpour A et al.
Molecular Medicine (cambridge, Mass.), 2026
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
Loss-of-function of lipopolysaccharide-responsive beige-like anchor protein causes inflammatory bowel disease-a case report and literature review.
Wang Z et al.
Translational Pediatrics, 2025
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
38534782 (PubMed )
Supplement: cimb-46-00166-s001.zip › cimb-2829607-supplementary.xlsx › S3Tab_EDS-917_DNA_variants
Analysis of rare genetic variants in All of Us cohort patients with common variable immunodeficiency.
von Beck T et al.
Frontiers in Genetics, 2024
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F et al.
Journal of Translational Medicine, 2023
37353797 (PubMed )
Supplement: 12967_2023_4183_MOESM3_ESM.xlsx › Table_S3
Very-Early Onset Chronic Active Colitis with Heterozygous Variants in LRBA1 and CARD11, a Case of "Immune TOR-Opathies".
He M et al.
Fetal and Pediatric Pathology, 2023
Characterization of infectious and non-infectious gastrointestinal disease in common variable immunodeficiency: analysis of 114 patient cohort.
Sanchez DA et al.
Frontiers in Immunology, 2023
Genetics and clinical phenotypes in common variable immunodeficiency.
Cunningham-Rundles C et al.
Frontiers in Genetics, 2023
38274105 (PubMed )
Supplement: DataSheet1.PDF
Genetic variation in genes of inborn errors of immunity in children with unexplained encephalitis.
Malik D et al.
Genes and Immunity, 2022
Divergent Roles of PI3K Isoforms in PTEN-Deficient Glioblastomas.
Xie S et al.
Cell Reports, 2020
32997991 (PubMed )
Supplement: NIHMS1633676-supplement-2.xlsx › BT224_Mutations
Multiple Presentations of LRBA Deficiency: a Single-Center Experience.
Kostel Bal S et al.
Journal of Clinical Immunology, 2017
Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency.
Maffucci P et al.
Frontiers in Immunology, 2016
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.
Di Fruscio G et al.
Autophagy, 2015
26075876 (PubMed )
Supplement: kaup-11-06-1043077-s001.zip › 1043077_supplemental_files › TABLE_S6.xlsx › results
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