Associated Papers
A rare haplotype of the GJD3 gene segregating in familial Meniere's disease interferes with connexin assembly.
Escalera-Balsera A et al.
Genome Medicine, 2025
Exome sequencing identifies novel genetic variants associated with varicose veins.
Zhang DD et al.
Plos Genetics, 2024
38980841 (PubMed )
Supplement: pgen.1011339.s009.xlsx › Sheet1
Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.
Patiño-García A et al.
Ebiomedicine, 2024
38484556 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_2
Genomic characterization of lymphomas in patients with inborn errors of immunity.
Ye X et al.
Blood Advances, 2022
35687490 (PubMed )
Supplement: advancesADV2021006654-suppl4.xlsx › PL5__PON_in_red_
Whole exome sequencing in 75 high-risk families with validation and replication in independent case-control studies identifies TANGO2, OR5H14, and CHAD as new prostate cancer susceptibility genes.
Karyadi DM et al.
Oncotarget, 2017
27902461 (PubMed )
Supplement: oncotarget-08-1495-s003.xlsx › Sheet1
Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency.
Schlechter N et al.
Frontiers in Immunology, 2017
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