Associated Papers
BRCA2-Related Hereditary Cancer Syndrome-Associated Small Bowel Adenocarcinoma With Multiple BRCA2 Mutations: A Case Report and Review of the Literature.
Antoci F et al.
Cancer Reports (hoboken, N.j.), 2025
Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project.
Green RC et al.
American Journal of Human Genetics, 2023
Development and validation of a targeted gene sequencing panel for application to disparate cancers.
McCabe MJ et al.
Scientific Reports, 2019
A Functional Analysis of the Unclassified Pro2767Ser BRCA2 Variant Reveals Its Potential Pathogenicity that Acts by Hampering DNA Binding and Homology-Mediated DNA Repair.
Esposito MV et al.
Cancers, 2019
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.
Ceyhan-Birsoy O et al.
American Journal of Human Genetics, 2019
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H et al.
Plos One, 2017
28152038 (PubMed )
Supplement: pone.0170843.s003.xlsx › S3_Table
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.
Johnston JJ et al.
American Journal of Human Genetics, 2015
Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer.
Wong-Brown MW et al.
Breast Cancer Research and Treatment, 2015
Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.
Thompson ER et al.
Plos Genetics, 2012
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.
Johnston JJ et al.
American Journal of Human Genetics, 2012
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