Associated Papers
Heterozygous variants of NOD2, IL10RA, PLA2G6 and COL7A1 correlate with Crohn's disease.
Zhang Q et al.
Heliyon, 2024
38163100 (PubMed )
Supplement: mmc1.xlsx › Sheet1
A synergetic effect of BARD1 mutations on tumorigenesis.
Li W et al.
Nature Communications, 2021
33623049 (PubMed )
Supplement: 41467_2021_21519_MOESM5_ESM.xlsx › sheet1
Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.
Zhou Y et al.
Bmc Medical Genetics, 2020
32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL1
A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism.
Meinke P et al.
Ebiomedicine, 2020
31862442 (PubMed )
Supplement: mmc1.xlsx › Family_Sequencing
Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.
Kim YC et al.
Plos One, 2017
28076423 (PubMed )
Supplement: pone.0167581.s005.xlsx › 24_Caucasian_controls
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