Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
Mapping multimodal phenotypes to perturbations in cells and tissue with CRISPRmap.
Gu J et al.
Nature Biotechnology, 2025
Whole-Exome Sequencing Reveals High Prevalence of Germline Alterations in Neuroendocrine Neoplasms.
Sukrithan V et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 2025
Distinct pathways for genetic and epigenetic predisposition in familial and bilateral Wilms tumor.
Wegert J et al.
Genome Medicine, 2025
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
Assessment of candidate high-grade serous ovarian carcinoma predisposition genes through integrated germline and tumour sequencing.
Subramanian DN et al.
Npj Genomic Medicine, 2025
Germline genetic mutations in a multi-center cohort of 248 phyllodes tumors.
Rosenberger LH et al.
Breast Cancer Research and Treatment, 2025
Widening the spectrum of players affected by genetic changes in Wilms tumor relapse.
Ciceri S et al.
Iscience, 2024
Susceptibility gene mutations in germline and tumors of patients with HER2-negative advanced breast cancer.
Fasching PA et al.
Npj Breast Cancer, 2024
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
Increased Frequency of Clonal Hematopoiesis of Indeterminate Potential in Bloom Syndrome Probands and Carriers.
Lin I et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Germline DNA damage response gene mutations as predictive biomarkers of immune checkpoint inhibitor efficacy.
Dennis MJ et al.
Frontiers in Immunology, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
CRISPRmap: Sequencing-free optical pooled screens mapping multi-omic phenotypes in cells and tissue.
Gu J et al.
Biorxiv : the Preprint Server for Biology, 2023
The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.
Davidson AL et al.
Genome Medicine, 2023
Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies.
Saygin C et al.
Blood Advances, 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
Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.
Bonfiglio F et al.
Ebiomedicine, 2023
The germline mutational landscape of genitourinary cancers and its indication for prognosis and risk.
Yang Y et al.
Bmc Urology, 2022
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
Genomics Driving Diagnosis and Treatment of Inborn Errors of Immunity With Cancer Predisposition.
Barmettler S et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2022
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
Exonic sequencing and MLH3 gene expression analysis of breast cancer patients.
Khailany RA et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2021
Molecular pathogenesis of hereditary lung cancer: a literature review.
Rammal S et al.
Pharmacogenomics, 2021
Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study.
Li N et al.
Npj Breast Cancer, 2021
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.
Sallevelt SCEH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Heterozygous germline BLM mutations increase susceptibility to asbestos and mesothelioma.
Bononi A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020
Common germline-somatic variant interactions in advanced urothelial cancer.
Vosoughi A et al.
Nature Communications, 2020
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
Kaseniit KE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020