Associated Papers
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Rare Germline ATM Variants Influence the Development of Chronic Lymphocytic Leukemia.
Lampson BL et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2023
Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools.
Garcia-Prieto CA et al.
Bioinformatics (oxford, England), 2022
Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia.
Dalmasso B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
Complementary Role of Circulating Tumor DNA Assessment and Tissue Genomic Profiling in Metastatic Renal Cell Carcinoma.
Zengin ZB et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2021
TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.
Lesueur F et al.
Cancers, 2021
Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.
Pearlman R et al.
Jco Precision Oncology, 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
Clinical Implications of Plasma-Based Genotyping With the Delivery of Personalized Therapy in Metastatic Non-Small Cell Lung Cancer.
Aggarwal C et al.
Jama Oncology, 2019
Analysis of Tissue and Circulating Tumor DNA by Next-Generation Sequencing of Hepatocellular Carcinoma: Implications for Targeted Therapeutics.
Ikeda S et al.
Molecular Cancer Therapeutics, 2018
Rare germline variants in known melanoma susceptibility genes in familial melanoma.
Goldstein AM et al.
Human Molecular Genetics, 2017
Genomic profiling of Acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link between ATM mutations and chromothripsis.
Ratnaparkhe M et al.
Leukemia, 2017
Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.
Tavtigian SV et al.
American Journal of Human Genetics, 2009