Associated Papers
Multi-gene panel sequencing reveals the relationship between driver gene mutation and clinical characteristics in lung adenocarcinoma.
Li J et al.
Discover Oncology, 2025
40053265 (PubMed )
Supplement: 12672_2025_2008_MOESM1_ESM.xlsx › Table_S2
The RET gene encodes RET protein, which triggers intracellular signaling pathways for enteric neurogenesis, and RET mutation results in Hirschsprung's disease.
Bhattarai C et al.
Aims Neuroscience, 2022
Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.
Newman S et al.
Cancer Discovery, 2021
34301788 (PubMed )
Supplement: cd-20-1631_supplementary_tables_suppst1.xlsx › S9._Germline_VUS
Paired comparisons of mutational profiles before and after brachytherapy in asian uveal melanoma patients.
Lee WS et al.
Scientific Reports, 2021
34545149 (PubMed )
Supplement: 41598_2021_98084_MOESM2_ESM.xlsx › Nonsynonymous_SNV_All_YUHS
Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma.
Suzuki H et al.
Nature, 2019
31664194 (PubMed )
Supplement: NIHMS1539056-supplement-2.xlsx › Supplementary_Table_5
Noncoding RET variants explain the strong association with Hirschsprung disease in patients without rare coding sequence variant.
Virtanen VB et al.
European Journal of Medical Genetics, 2019
Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls.
Kim J et al.
Genome Medicine, 2018
30583724 (PubMed )
Supplement: 13073_2018_607_MOESM3_ESM.xlsx › 115_variants_manually_reviewed
VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.
Lai Z et al.
Nucleic Acids Research, 2016
27060149 (PubMed )
Supplement: gkw227_Supplementary_Data.zip › nar-03544-met-k-2015-File003.xls › Suppl._Table_3
Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin.
McDonell LM et al.
Human Molecular Genetics, 2015
Functional analysis of the 5' regulatory region of the 5-aminolevulinate synthase (ALAS1) gene in response to estrogen.
du Plessis N et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2009
A review of genetic mutation in familial Hirschsprung's disease in South Africa: towards genetic counseling.
Moore SW et al.
Journal of Pediatric Surgery, 2008
[Molecular biology, basic research and diagnosis of Hirschsprung's disease].
Martucciello G et al.
Der Pathologe, 2007
Intrinsic susceptibility to misfolding of a hot-spot for Hirschsprung disease mutations in the ectodomain of RET.
Kjaer S et al.
Human Molecular Genetics, 2003
Novel RET mutations in Hirschsprung's disease patients from the diverse South African population.
Julies MG et al.
European Journal of Human Genetics : Ejhg, 2001
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