Associated Papers
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
Clinical Validation of the Somatic FANCD2 Mutation (c.2022-5C>T) as a Novel Molecular Biomarker for Early Disease Progression in Chronic Myeloid Leukemia: A Case-Control Study.
Alanazi N et al.
Hematology Reports, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
A comprehensive analysis of Fanconi anemia genes in Chinese patients with high-risk hereditary breast cancer.
Zhu QY et al.
Journal of Cancer Research and Clinical Oncology, 2023
Differential Regulation of Retinoic Acid Metabolism in Fanconi Anemia.
Blaize JL et al.
Biorxiv : the Preprint Server for Biology, 2023
Splicing-Disrupting Mutations in Inherited Predisposition to Solid Pediatric Cancer.
Alba-Pavón P 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
Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.
Song H et al.
Journal of Medical Genetics, 2021
Spectrum of Germline Mutations Within Fanconi Anemia-Associated Genes Across Populations of Varying Ancestry.
Chan SH et al.
Jnci Cancer Spectrum, 2021
Genomic profiling reveals high frequency of DNA repair genetic aberrations in gallbladder cancer.
Abdel-Wahab R et al.
Scientific Reports, 2020
TAPES: A tool for assessment and prioritisation in exome studies.
Xavier A et al.
Plos Computational Biology, 2019
Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia.
Maung KZY et al.
Blood Cancer Journal, 2018
A pilot study evaluating concordance between blood-based and patient-matched tumor molecular testing within pancreatic cancer patients participating in the Know Your Tumor (KYT) initiative.
Pishvaian MJ et al.
Oncotarget, 2017
Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma.
Brohl AS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility.
Mantere T et al.
Scientific Reports, 2017
Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders.
Zhang J et al.
Clinical Genetics, 2016
Update of the human and mouse Fanconi anemia genes.
Dong H et al.
Human Genomics, 2015
Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity.
Zhang MY et al.
Haematologica, 2015
Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4.
Kim Y et al.
Blood, 2013
Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma.
Smetsers S et al.
Familial Cancer, 2012
Diagnosis of fanconi anemia: mutation analysis by next-generation sequencing.
Ameziane N et al.
Anemia, 2012
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