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Blood|November 4, 2004
A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from SpainElsa Callén, José A Casado, Marc D Tischkowitz, et al.
The EMBO Journal|March 31, 2007
FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathwayChen Ling, Masamichi Ishiai, Abdullah Mahmood Ali, et al.
Nature Genetics|January 18, 2011
SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtypeChantal Stoepker, Karolina Hain, Beatrice Schuster, et al.
Plos One|February 20, 2010
Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 functionMarc Trimborn, Mahdi Ghani, Diego J Walther, et al.
Journal of Medical Genetics|March 2, 2019
Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutationsNienke J H van Os, Luciana Chessa, Corry M R Weemaes, et al.
Nature Genetics|January 4, 2007
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancerSarah Reid, Detlev Schindler, Helmut Hanenberg, et al.
Blood Advances|January 4, 2018
Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemiaJudith Reina-Castillón, Roser Pujol, Marcos López-Sánchez, et al.
Annals of Clinical and Translational Neurology|January 10, 2015
Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weaknessHao Hu, Michelle L Matter, Lina Issa-Jahns, et al.
American Journal of Human Genetics|April 30, 2013
Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemiaMassimo Bogliolo, Beatrice Schuster, Chantal Stoepker, et al.
Nature Genetics|April 20, 2010
Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility geneAlfons Meindl, Heide Hellebrand, Constanze Wiek, et al.
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