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Cancer Research|October 3, 2007
Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancerMarianne Berwick, Jaya M Satagopan, Leah Ben-Porat, et al.
Human Mutation|July 3, 2010
Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotypeVéronique Dutrannoy, Ilja Demuth, Ulrich Baumann, et al.
Molecular Cancer|June 1, 2010
Genetic inactivation of the Fanconi anemia gene FANCC identified in the hepatocellular carcinoma cell line HuH-7 confers sensitivity towards DNA-interstrand crosslinking agentsAndreas Palagyi, Kornelia Neveling, Ursula Plinninger, et al.
Orphanet Journal of Rare Diseases|October 22, 2014
Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2)Horst von Bernuth, Ethiraj Ravindran, Hang Du, et al.
Scientific Reports|November 15, 2018
Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutationBeate Hagl, Benedikt D Spielberger, Silvia Thoene, et al.
Cellular Oncology : the Official Journal of the International Society for Cellular Oncology|April 25, 2007
Identification of the Fanconi anemia complementation group I gene, FANCIJosephine C Dorsman, Marieke Levitus, Davy Rockx, et al.
The Journal of Biological Chemistry|July 16, 2011
ATM protein-dependent phosphorylation of Rad50 protein regulates DNA repair and cell cycle controlMagtouf Gatei, Burkhard Jakob, Philip Chen, et al.
Plos Genetics|April 29, 2017
Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformationEthiraj Ravindran, Hao Hu, Scott A Yuzwa, et al.
Molecular Cell|June 19, 2012
A ubiquitin-binding protein, FAAP20, links RNF8-mediated ubiquitination to the Fanconi anemia DNA repair networkZhijiang Yan, Rong Guo, Manikandan Paramasivam, et al.
Nature Genetics|April 20, 2010
Mutation of the RAD51C gene in a Fanconi anemia-like disorderFiona Vaz, Helmut Hanenberg, Beatrice Schuster, et al.
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