Associated Papers
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
39799398 (PubMed )
Supplement: mmc2.xlsx › variantCounts
Role of DOCK8 in cytokine storm syndromes.
Zhang M et al.
The Journal of Allergy and Clinical Immunology, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2A.Summary_vars_CPGs_MMgenes
Genetic screening in a Brazilian cohort with inborn errors of immunity.
Ferreira CS et al.
Bmc Genomic Data, 2023
37592284 (PubMed )
Supplement: 12863_2023_1148_MOESM5_ESM.xlsx › Secondary_variants
Human inherited complete STAT2 deficiency underlies inflammatory viral diseases.
Bucciol G et al.
The Journal of Clinical Investigation, 2023
36976641 (PubMed )
Supplement: jci-133-168321-s202.pdf
Genetics and clinical phenotypes in common variable immunodeficiency.
Cunningham-Rundles C et al.
Frontiers in Genetics, 2023
Exome-first Approach Identified Novel Homozygous Dedicator of Cytokinesis 8 (DOCK8) Mutations in Three Unrelated Iranian Pedigrees Suspected with Hyper-IgE Syndrome.
Aghebati-Maleki A et al.
Iranian Journal of Allergy, Asthma, and Immunology, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma.
Brohl AS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28125078 (PubMed )
Supplement: NIHMS837744-supplement-Supplementary__Figure_and_Tables.pdf
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