Associated Papers
A Tiered Approach to Exome Sequencing Analysis in Early-Onset Primary Ovarian Insufficiency.
McGlacken-Byrne SM et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Genomic alterations in normal breast tissues preceding breast cancer diagnosis.
Dai J et al.
Breast Cancer Research : Bcr, 2025
Phenotypic evaluation of deep learning models for classifying germline variant pathogenicity.
Chow RD et al.
Npj Precision Oncology, 2024
Identification of Genes with Rare Loss of Function Variants Associated with Aggressive Prostate Cancer and Survival.
Saunders EJ et al.
European Urology Oncology, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.
Bolze A et al.
Jama Oncology, 2024
Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study.
Adam F et al.
Bmc Medical Genomics, 2023
Comprehensive Approach to Genomic and Immune Profiling: Insights of a Real-World Experience in Gynecological Tumors.
Prieto-Potin I et al.
Diagnostics (basel, Switzerland), 2022
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
Development and evaluation of ActSeq: A targeted next-generation sequencing panel for clinical oncology use.
Shi Z et al.
Plos One, 2022
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
Novel LRRK2 mutations and other rare, non-BAP1-related candidate tumor predisposition gene variants in high-risk cancer families with mesothelioma and other tumors.
Cheung M et al.
Human Molecular Genetics, 2021
Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study.
Karlsson Q et al.
European Urology Oncology, 2021
Sensitivity of cells to ATR and CHK1 inhibitors requires hyperactivation of CDK2 rather than endogenous replication stress or ATM dysfunction.
Ditano JP et al.
Scientific Reports, 2021
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.
Byrjalsen A et al.
Plos Genetics, 2020
Pan-cancer whole-genome analyses of metastatic solid tumours.
Priestley P et al.
Nature, 2019
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.
Boonsawat P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Rare germline variants in ATM are associated with chronic lymphocytic leukemia.
Tiao G et al.
Leukemia, 2017
A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.
Mucaki EJ et al.
Bmc Medical Genomics, 2016
Patterns and functional implications of rare germline variants across 12 cancer types.
Lu C et al.
Nature Communications, 2015
Beyond BRAF(V600): clinical mutation panel testing by next-generation sequencing in advanced melanoma.
Siroy AE et al.
The Journal of Investigative Dermatology, 2015