Associated Papers
Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia.
Zagnoli-Vieira G et al.
Human Genetics, 2023
Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis.
Joshi G et al.
Journal of Medical Genetics, 2023
Fanconi anemia: current insights regarding epidemiology, cancer, and DNA repair.
Peake JD et al.
Human Genetics, 2022
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Fanconi Anemia Patients from an Indigenous Community in Mexico Carry a New Founder Pathogenic Variant in FANCG.
Reyes P et al.
International Journal of Molecular Sciences, 2022
Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry.
Eygelaar D et al.
Scientific Reports, 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
African genetic diversity and adaptation inform a precision medicine agenda.
Pereira L et al.
Nature Reviews. Genetics, 2021
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
Canonical and Noncanonical Roles of Fanconi Anemia Proteins: Implications in Cancer Predisposition.
Milletti G et al.
Cancers, 2020
Endocrine profiling in patients with Fanconi anemia, homozygous for a FANCG founder mutation.
Dillon B et al.
Molecular Genetics & Genomic Medicine, 2020
Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms.
Kim B et al.
Plos One, 2019
Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations.
Krause A et al.
Annual Review of Genomics and Human Genetics, 2018
Diagnosis of Fanconi Anaemia by ionising radiation- or mitomycin C-induced micronuclei.
Francies FZ et al.
Dna Repair, 2018
Clinical characteristics and genetic subtypes of Fanconi anemia in Saudi patients.
Ghazwani Y et al.
Cancer Genetics, 2016
Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans.
Elmakky A et al.
Current Genomics, 2015
Hematological consequences of a FANCG founder mutation in Black South African patients with Fanconi anemia.
Feben C et al.
Blood Cells, Molecules & Diseases, 2015
Genetic counseling for Fanconi anemia: crosslinking disciplines.
Zierhut HA et al.
Journal of Genetic Counseling, 2014
Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing.
Gille JJ et al.
Anemia, 2012
A common Fanconi anemia mutation in black populations of sub-Saharan Africa.
Morgan NV et al.
Blood, 2005