Associated Papers
Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.
Yang W et al.
Journal of Translational Medicine, 2025
Building a hereditary cancer program in Colombia: analysis of germline pathogenic and likely pathogenic variants spectrum in a high-risk cohort.
Sanabria-Salas MC et al.
European Journal of Human Genetics : Ejhg, 2025
Clinical and genetic spectrum of Fanconi anemia in Australia and New Zealand.
Fluhler H et al.
Genetics in Medicine Open, 2025
FANCD2 genome binding is nonrandom and is enriched at large transcriptionally active neural genes prone to copy number variation.
Blaize JL et al.
Functional & Integrative Genomics, 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
Genomic analysis of plasma circulating tumor DNA in patients with heavily pretreated HER2 + metastatic breast cancer.
Lee K et al.
Scientific Reports, 2023
Differential Regulation of Retinoic Acid Metabolism in Fanconi Anemia.
Blaize JL et al.
Biorxiv : the Preprint Server for Biology, 2023
Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort.
Altintas B et al.
Haematologica, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19.
López-Rodríguez R et al.
Scientific Reports, 2022
Acquired somatic variants in inherited myeloid malignancies.
Armes H et al.
Leukemia, 2022
The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature.
Thompson AS et al.
Molecular Genetics & Genomic Medicine, 2021
Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.
Bogliolo M et al.
Journal of Medical Genetics, 2020
Pan-cancer whole-genome analyses of metastatic solid tumours.
Priestley P et al.
Nature, 2019
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.
Girard E et al.
International Journal of Cancer, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Lymphopenia With Clinical and Laboratory Features of Combined Immune Deficiency in an 11-Year-Old Female With FANCD2 Variants and Fanconi Anemia.
Deniskin R et al.
Frontiers in Pediatrics, 2018
Re-emergence of acute myeloid leukemia in donor cells following allogeneic transplantation in a family with a germline DDX41 mutation.
Berger G et al.
Leukemia, 2017
Defective FANCI binding by a fanconi anemia-related FANCD2 mutant.
Sato K et al.
Plos One, 2014
Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4.
Kim Y et al.
Blood, 2013
Genotype-phenotype correlations in Fanconi anemia.
Neveling K et al.
Mutation Research, 2009
Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype.
Kalb R et al.
American Journal of Human Genetics, 2007