Associated Papers
Polygenic variants in DNA repair genes are associated with neurodevelopmental disorders, regression and increased burdens of somatic variants and short tandem repeat expansions.
Cerminara M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Potential role of Fanconi anemia pathway in the pathogenesis of endometrial cancer (Review).
Yao M et al.
Molecular Medicine Reports, 2025
An Analysis of Genetic Polymorphisms in 76 Genes Related to the Development of Ovarian Tumors of Different Aggressiveness.
Szafron LA et al.
International Journal of Molecular Sciences, 2024
First report of familial mixed phenotype acute leukemia: shared clinical characteristics, Philadelphia translocation, and germline variants.
Shiozawa Y et al.
International Journal of Hematology, 2024
The genomic and evolutionary landscapes of anaplastic thyroid carcinoma.
Zeng PYF et al.
Cell Reports, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Functional Homologous Recombination (HR) Screening Shows the Majority of BRCA1/2-Mutant Breast and Ovarian Cancer Cell Lines Are HR-Proficient.
Meijer TG et al.
Cancers, 2024
Determination of genetic predisposition to early breast cancer in women of Kazakh ethnicity.
Zhunussova G et al.
Oncotarget, 2023
Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.
Adamson AW et al.
Journal of Ovarian Research, 2023
Clinical, pathological, and comprehensive molecular analysis of the uterine clear cell carcinoma: a retrospective national study from TMRG and GINECO network.
Nigon E et al.
Journal of Translational Medicine, 2023
Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene.
Fierheller CT et al.
Genes, 2023
Genetic analyses of DNA repair pathway associated genes implicate new candidate cancer predisposing genes in ancestrally defined ovarian cancer cases.
Alenezi WM et al.
Frontiers in Oncology, 2023
Analysis of high-risk pedigrees identifies 11 candidate variants for Alzheimer's disease.
Teerlink CC et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2022
A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene.
Fierheller CT et al.
Genome Medicine, 2021
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.
Wagener R et al.
European Journal of Human Genetics : Ejhg, 2021
Genomics of lethal prostate cancer at diagnosis and castration resistance.
Mateo J et al.
The Journal of Clinical Investigation, 2020
Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients.
Del Valle J et al.
Cancers, 2020
Multigene Panel Testing Increases the Number of Loci Associated with Gastric Cancer Predisposition.
Tedaldi G et al.
Cancers, 2019
Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.
Tessoulin B et al.
Journal of Hematology & Oncology, 2018
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
Mutational landscape of candidate genes in familial prostate cancer.
Johnson AM et al.
The Prostate, 2014
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014