Associated Papers
Summarizing the human genes and their variants causative of non-obstructive azoospermia uncovered using whole genome/exome sequencing.
Ibrahim R et al.
Reproductive Biology, 2025
Impact of CHEK2 germline variants on haematological malignancy risk and outcomes of allogeneic HSCT.
Lahtinen AK et al.
British Journal of Haematology, 2025
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
Significantly increased load of hereditary cancer-linked germline variants in infertile men.
Valkna A et al.
Human Reproduction Open, 2025
High- and Moderate-Risk Variants Among Breast Cancer Patients and Healthy Donors Enrolled in Multigene Panel Testing in a Population of Central Russia.
Shumilova S et al.
International Journal of Molecular Sciences, 2024
Toward clinical exomes in diagnostics and management of male infertility.
Lillepea K et al.
American Journal of Human Genetics, 2024
Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases.
Figlioli G et al.
Cancers, 2023
Association of FANCM Mutations with Familial and Early-Onset Breast Cancer Risk in a South American Population.
Morales-Pison S et al.
International Journal of Molecular Sciences, 2023
Clinically relevant germline variants in allogeneic hematopoietic stem cell transplant recipients.
Lahtinen AK et al.
Bone Marrow Transplantation, 2023
Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.
Bonfiglio F et al.
Ebiomedicine, 2023
Pathogenic Variant Spectrum in Breast Cancer Risk Genes in Finnish Patients.
Nurmi AK et al.
Cancers, 2022
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Platinum-based chemotherapy for pancreatic cancer: impact of mutations in the homologous recombination repair and Fanconi anemia genes.
Emelyanova M et al.
Therapeutic Advances in Medical Oncology, 2022
Novel Bi-Allelic Variants of FANCM Cause Sertoli Cell-Only Syndrome and Non-Obstructive Azoospermia.
Zhang Y et al.
Frontiers in Genetics, 2021
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases.
Figlioli G et al.
Cancers, 2020
Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia.
Kasak L et al.
American Journal of Human Genetics, 2018
FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine.
Nguyen-Dumont T et al.
Bmc Medical Genetics, 2018
Germline whole exome sequencing and large-scale replication identifies FANCM as a likely high grade serous ovarian cancer susceptibility gene.
Dicks E et al.
Oncotarget, 2017