Associated Papers
A Plot Twist: When RNA Yields Unexpected Findings in Paired DNA-RNA Germline Genetic Testing.
Zimmermann H et al.
Genes, 2025
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.
Yin X et al.
American Journal of Human Genetics, 2024
Systematic large-scale application of ClinGen InSiGHT APC -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases.
Yin X et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.
Shah SM et al.
Cancer Research Communications, 2024
38282550 (PubMed )
Supplement: crc-23-0312-s02.xlsx › Fig3A_CRC_data
Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project.
Seaby EG et al.
Human Genetics, 2023
36477409 (PubMed )
Supplement: 439_2022_2509_MOESM2_ESM.xlsx › Sheet1
Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.
Usui Y et al.
Cancer Science, 2022
36065483 (PubMed )
Supplement: CAS-113-3972-s007.pdf
A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.
Xiao J et al.
Bmc Cancer, 2021
33726687 (PubMed )
Supplement: 12885_2021_7942_MOESM3_ESM.xlsx › Table_S2
Highly multiplexed quantifications of 299 somatic mutations in colorectal cancer patients by automated MALDI-TOF mass spectrometry.
Xu C et al.
Bmc Medical Genomics, 2020
33008377 (PubMed )
Supplement: 12920_2020_804_MOESM1_ESM.xls › SuppTable1
Exploiting differential Wnt target gene expression to generate a molecular biomarker for colorectal cancer stratification.
Kleeman SO et al.
Gut, 2020
31563876 (PubMed )
Supplement: gutjnl-2019-319126supp003.xlsx › Sup_Table_3
Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.
Dong X et al.
Communications Biology, 2020
31925297 (PubMed )
Supplement: 42003_2019_736_MOESM10_ESM.xlsx › Sheet1
Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.
Punj S et al.
American Journal of Human Genetics, 2018
Targeted Next-Generation Sequencing Identifies Actionable Targets in Estrogen Receptor Positive and Estrogen Receptor Negative Endometriod Endometrial Cancer.
Suhaimi SS et al.
Frontiers in Pharmacology, 2018
30057548 (PubMed )
Supplement: Data_Sheet_1.xls › Supplementary_Table_S5
Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.
Ashktorab H et al.
Oncotarget, 2017
29245953 (PubMed )
Supplement: oncotarget-08-99966-s003.xlsx › AA.APC
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.
Palles C et al.
Nature Genetics, 2013
Identification and computationally-based structural interpretation of naturally occurring variants of human protein C.
Rovida E et al.
Human Mutation, 2007
Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations.
Gavert N et al.
Human Mutation, 2002
Maternal mosaicism for a second mutational event--a novel deletion--in a familial adenomatous polyposis family harboring a new germ-line mutation in the alternatively spliced-exon 9 region of APC.
Davidson S et al.
Human Mutation, 2002
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