Associated Papers
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.
Singh AK et al.
Bmc Medical Genomics, 2023
37296477 (PubMed )
Supplement: 12920_2023_1562_MOESM3_ESM.xlsx › Stage3.2.2-ClassUnknown_Splice
Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.
Smith ED et al.
Human Mutation, 2017
28106320 (PubMed )
Supplement: HUMU-38-600-s001.pdf
Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT.
Nicolaou N et al.
Kidney International, 2016
Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.
Hwang DY et al.
Kidney International, 2014
24429398 (PubMed )
Supplement: NIHMS543078-supplement-supplement_1.pdf
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