Associated Papers
Association of IgG4-related disease with human inborn errors of immunity.
Batani V et al.
Rheumatology (oxford, England), 2025
40569058 (PubMed )
Supplement: keaf353_supplementary_data.zip › keaf353_Supplementary_Data › rhe-24-2575-File009.pdf
Recessive genetic contribution to congenital heart disease in 5,424 probands.
Dong W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
40030011 (PubMed )
Supplement: pnas.2419992122.sd02.xlsx › Dataset_S2_-_RGs
Introducing Exome Sequencing as Part of the Diagnostic Algorithm for Pediatric Nephrology Patients in Bulgaria: A Single-Center Experience.
Beltcheva O et al.
Nephron, 2024
Genetic insights into MIS-C Post-COVID-19 in Kuwaiti children: investigating monogenic factors.
Dashti M et al.
Frontiers in Cellular and Infection Microbiology, 2024
Identification of a novel mutation in complement receptor 2 in Chinese familial systemic lupus erythematosus.
Tang Y et al.
Archives of Rheumatology, 2022
Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals.
D'Alterio G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
35511137 (PubMed )
Supplement: mmc1.xls › supplementary_table4
Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.
El Hawary RE et al.
Journal of Clinical Immunology, 2022
The Genetic Landscape of Ocular Adnexa MALT Lymphoma Reveals Frequent Aberrations in NFAT and MEF2B Signaling Pathways.
Magistri M et al.
Cancer Research Communications, 2021
35528192 (PubMed )
Supplement: crc-21-0022-s05.xlsx › Fig3_pathway_variants
The TNFRSF13C H159Y Variant Is Associated with Severe COVID-19: A Retrospective Study of 500 Patients from Southern Italy.
Russo R et al.
Genes, 2021
The impact of rare and low-frequency genetic variants in common variable immunodeficiency (CVID).
Bisgin A et al.
Scientific Reports, 2021
33859323 (PubMed )
Supplement: 41598_2021_87898_MOESM3_ESM.pdf
An integrated personal and population-based Egyptian genome reference.
Wohlers I et al.
Nature Communications, 2020
32948767 (PubMed )
Supplement: 41467_2020_17964_MOESM18_ESM.xlsx › Supplementary_Data_15
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