Associated Papers
Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.
Gusakova M et al.
Frontiers in Oncology, 2024
39301547 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_10.XLSX › Group_1
Novel Calcium-Binding Ablating Mutations Induce Constitutive RET Activity and Drive Tumorigenesis.
Tabata J et al.
Cancer Research, 2022
36166639 (PubMed )
Supplement: can-22-0834_supplementary_table_s1_suppst1.xlsx › Supplementary_Table_S1
Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.
Cong PK et al.
Clinical and Translational Medicine, 2022
35538921 (PubMed )
Supplement: CTM2-12-e866-s001.docx
Deciphering the mutation spectrum in south Indian children with congenital anomalies of the kidney and urinary tract.
Narikot A et al.
Bmc Nephrology, 2022
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Targeted mutation detection in breast cancer using MammaSeq™.
Smith NG et al.
Breast Cancer Research : Bcr, 2019
30736836 (PubMed )
Supplement: 13058_2019_1102_MOESM7_ESM.xlsx › Solid_Tumors
Clonal and microclonal mutational heterogeneity in high hyperdiploid acute lymphoblastic leukemia.
de Smith AJ et al.
Oncotarget, 2016
27683039 (PubMed )
Supplement: oncotarget-07-72733-s003.xlsx › Sheet1
RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling.
Widowati T et al.
European Journal of Human Genetics : Ejhg, 2016
Screening of the RET gene of Vietnamese Hirschsprung patients identifies 2 novel missense mutations.
Ngo DN et al.
Journal of Pediatric Surgery, 2012
Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting.
Crockett DK et al.
Genome Medicine, 2012
22640420 (PubMed )
Supplement: gm347-S2.DOC
Predicting phenotypic severity of uncertain gene variants in the RET proto-oncogene.
Crockett DK et al.
Plos One, 2011
Mutations and polymorphisms of Hirschsprung disease candidate genes in Thai patients.
Sangkhathat S et al.
Journal of Human Genetics, 2006
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