Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits.
Witt D et al.
Breast (edinburgh, Scotland), 2025
Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clonal hematopoiesis.
Wen S et al.
Nature Genetics, 2025
A missense variant effect map for the human tumor-suppressor protein CHK2.
Gebbia M et al.
American Journal of Human Genetics, 2024
Increased Prevalence of Germline Pathogenic CHEK2 Variants in Individuals With Pituitary Adenomas.
De Sousa SMC et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
Performance of a RAD51-based functional HRD test on paraffin-embedded breast cancer tissue.
van Wijk LM et al.
Breast Cancer Research and Treatment, 2023
BRCA-deficient metastatic prostate cancer has an adverse prognosis and distinct genomic phenotype.
Fettke H et al.
Ebiomedicine, 2023
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.
Stolarova L et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
Somatic inactivation of breast cancer predisposition genes in tumors associated with pathogenic germline variants.
Lim BWX et al.
Journal of the National Cancer Institute, 2023
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
Functional Analysis Identifies Damaging CHEK2 Missense Variants Associated with Increased Cancer Risk.
Boonen RACM et al.
Cancer Research, 2022
Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.
Song H et al.
Journal of Medical Genetics, 2021
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P et al.
Frontiers in Genetics, 2021
Clustering of known low and moderate risk alleles rather than a novel recessive high-risk gene in non-BRCA1/2 sib trios affected with breast cancer.
Hilbers FS et al.
International Journal of Cancer, 2020
Clinical and genomic insights into circulating tumor DNA-based alterations across the spectrum of metastatic hormone-sensitive and castrate-resistant prostate cancer.
Kohli M et al.
Ebiomedicine, 2020
Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system.
Delimitsou A et al.
Human Mutation, 2019
Computational analysis of high-risk SNPs in human CHK2 gene responsible for hereditary breast cancer: A functional and structural impact.
Badgujar NV et al.
Plos One, 2019