Associated Papers
Clinical and genetic spectrum of Fanconi anemia in Australia and New Zealand.
Fluhler H et al.
Genetics in Medicine Open, 2025
A comprehensive study evaluating germline FANCG variants in predisposition to breast and ovarian cancer.
Soukupova J et al.
Cancer Medicine, 2024
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1
A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects.
George M et al.
Human Mutation, 2021
Frequent internuclear bridging in a Fanconi anemia patient with FANCG mutation.
Cochran T et al.
Blood, 2021
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
Clinical, cytogenetic and molecular findings in nine Moroccan patients with Fanconi anemia.
Doubaj Y et al.
The Pan African Medical Journal, 2021
Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.
Bogliolo M et al.
Journal of Medical Genetics, 2020
Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia.
Maung KZY et al.
Blood Cancer Journal, 2018
29891941 (PubMed )
Supplement: 41408_2018_90_MOESM1_ESM.docx
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 › UK10K_AR
Patterns and functional implications of rare germline variants across 12 cancer types.
Lu C et al.
Nature Communications, 2015
26689913 (PubMed )
Supplement: ncomms10086-s11.xlsx › supplementary_data_10
Spectrum of sequence variation in the FANCG gene: an International Fanconi Anemia Registry (IFAR) study.
Auerbach AD et al.
Human Mutation, 2003
Functional analysis of patient-derived mutations in the Fanconi anemia gene, FANCG/XRCC9.
Nakanishi K et al.
Experimental Hematology, 2001
Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9.
Demuth I et al.
European Journal of Human Genetics : Ejhg, 2000
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