Associated Papers
A retrospective single-center pilot study of the genetic background of the transplanted kidney.
Novotna A et al.
Plos One, 2025
39777909 (PubMed )
Supplement: pone.0316192.s002.xlsx › List1
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc4.xlsx › Supplementary_Table_4
Uncovering hidden genetic risk factors for breast and ovarian cancers in BRCA-negative women: a machine learning approach in the Saudi population.
Alganmi N et al.
Peerj. Computer Science, 2024
Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset.
McAllister B et al.
Nature Neuroscience, 2022
35379994 (PubMed )
Supplement: 41593_2022_1033_MOESM1_ESM.pdf
New insights on familial colorectal cancer type X syndrome.
Garcia FAO et al.
Scientific Reports, 2022
FAN1 exo- not endo-nuclease pausing on disease-associated slipped-DNA repeats: A mechanism of repeat instability.
Deshmukh AL et al.
Cell Reports, 2021
Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer.
Felicio PS et al.
Human Mutation, 2021
FAN1, a DNA Repair Nuclease, as a Modifier of Repeat Expansion Disorders.
Deshmukh AL et al.
Journal of Huntington's Disease, 2021
Candidate genes for hereditary colorectal cancer: Mutational screening and systematic review.
Belhadj S et al.
Human Mutation, 2020
Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals.
Dámaso E et al.
Cancers, 2020
32635641 (PubMed )
Supplement: cancers-12-01799-s001.zip › Supplementary_tables__Epi_genetic_characterization_of_LLS_with_modified_table_number.xlsx › Table_S5
Dominantly Inherited Hereditary Nonpolyposis Colorectal Cancer Not Caused by MMR Genes.
Terradas M et al.
Journal of Clinical Medicine, 2020
Inherited DNA Repair Gene Mutations in Men with Lethal Prostate Cancer.
Rantapero T et al.
Genes, 2020
32183364 (PubMed )
Supplement: genes-11-00314-s001.zip › genes-736952-supplementary.xlsx › Sheet1
An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray.
Bacchelli E et al.
Scientific Reports, 2020
32081867 (PubMed )
Supplement: 41598_2020_59922_MOESM2_ESM.xlsx › Table_S6
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › MultCaCa_DNArep
Ubiquitinated Fancd2 recruits Fan1 to stalled replication forks to prevent genome instability.
Lachaud C et al.
Science (new York, N.y.), 2016
Candidate DNA repair susceptibility genes identified by exome sequencing in high-risk pancreatic cancer.
Smith AL et al.
Cancer Letters, 2016
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