Associated Papers
Clinical relevance of protein-truncating variants of germline DNA repair genes in prostate cancer.
Shao YJ et al.
Bmc Cancer, 2024
EZH2 mutations in follicular lymphoma distort H3K27me3 profiles and alter transcriptional responses to PRC2 inhibition.
Romero P et al.
Nature Communications, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Genetic variants underlying spermatogenic arrests in men with non-obstructive azoospermia.
Ozturk S
Cell Cycle (georgetown, Tex.), 2023
Forty-seven pathogenic variants causing autosomal recessive disorders are shared by Israeli and Saudi Arabian Arabs.
Zlotogora J
Clinical Genetics, 2021
A genomics approach to male infertility.
Alhathal N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Genomic profiling in ovarian cancer retreated with platinum based chemotherapy presented homologous recombination deficiency and copy number imbalances of CCNE1 and RB1 genes.
da Costa AABA et al.
Bmc Cancer, 2019
Autozygome and high throughput confirmation of disease genes candidacy.
Maddirevula S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
XRCC2 (X-ray repair cross complementing 2).
Andreassen PR et al.
Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2019
XRCC2 Regulates Replication Fork Progression during dNTP Alterations.
Saxena S et al.
Cell Reports, 2018
XRCC2 mutation causes meiotic arrest, azoospermia and infertility.
Yang Y et al.
Journal of Medical Genetics, 2018
Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target.
Dufva O et al.
Nature Communications, 2018
Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53.
Lolas Hamameh S et al.
International Journal of Cancer, 2017
Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia.
Mamrak NE et al.
Blood Reviews, 2017
Complementation of hypersensitivity to DNA interstrand crosslinking agents demonstrates that XRCC2 is a Fanconi anaemia gene.
Park JY et al.
Journal of Medical Genetics, 2016
Functional Analysis of Missense Variants in the Putative Breast Cancer Susceptibility Gene XRCC2.
Hilbers FS et al.
Human Mutation, 2016
Patterns and functional implications of rare germline variants across 12 cancer types.
Lu C et al.
Nature Communications, 2015
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.
Johnston JJ et al.
American Journal of Human Genetics, 2015
Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation.
Shamseldin HE et al.
Journal of Medical Genetics, 2012