Associated Papers
Mutational scanning reveals substrate-assisted autoregulation of the WNT destruction complex.
Padmanarayana M et al.
Biorxiv : the Preprint Server for Biology, 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
Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.
Plowman JN et al.
Hgg Advances, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.
Cowan RW et al.
Clinical and Translational Gastroenterology, 2021
TAPES: A tool for assessment and prioritisation in exome studies.
Xavier A et al.
Plos Computational Biology, 2019
CharGer: clinical Characterization of Germline variants.
Scott AD et al.
Bioinformatics (oxford, England), 2019
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
Yehia L et al.
Plos Genetics, 2018
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
DeRycke MS et al.
Molecular Genetics & Genomic Medicine, 2017
Cell Dispersal Influences Tumor Heterogeneity and Introduces a Bias in NGS Data Interpretation.
Pongor L et al.
Scientific Reports, 2017
Clinical targeted exome-based sequencing in combination with genome-wide copy number profiling: precision medicine analysis of 203 pediatric brain tumors.
Ramkissoon SH et al.
Neuro-oncology, 2017
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Reinhold WC et al.
Plos One, 2014
Messing up disorder: how do missense mutations in the tumor suppressor protein APC lead to cancer?
Minde DP et al.
Molecular Cancer, 2011
Ethnic differences in the metabolism, toxicology and efficacy of three anticancer drugs.
Sai K et al.
Expert Opinion on Drug Metabolism & Toxicology, 2011
Missense polymorphisms in the adenomatous polyposis coli gene and colorectal cancer risk.
Cleary SP et al.
Diseases of the Colon and Rectum, 2008
Cutaneous melanoma susceptibility and progression genes.
de Snoo FA et al.
Cancer Letters, 2005
Genetic and epigenetic alterations of the APC gene in malignant melanoma.
Worm J et al.
Oncogene, 2004
First genotype characterization of Argentinean FAP patients: identification of 14 novel APC mutations.
De Rosa M et al.
Human Mutation, 2004