Cottineau, Julien; Kottemann, Molly C.; Lach, Francis P.; Kang, Young-Hoon; Vely, Frederic; Deenick, Elissa K.; Lazarov, Tomi; Gineau, Laure; Wang, Yi; Farina, Andrea; Chansel, Marie; Lorenzo, Lazaro; Piperoglou, Christelle; Ma, Cindy S.; Nitschke, Patrick; Belkadi, Aziz; Itan, Yuval; Boisson, Bertrand; Jabot-Hanin, Fabienne; Picard, Capucine; Bustamante, Jacinta; Eidenschenk, Celine; Boucherit, Soraya; Aladjidi, Nathalie; Lacombe, Didier; Barat, Pascal; Qasim, Waseem; Hurst, Jane A.; Pollard, Andrew J.; Uhlig, Holm H.; Fieschi, Claire; Michon, Jean; Bermudez, Vladimir P.; Abel, Laurent; de Villartay, Jean-Pierre; Geissmann, Frederic; Tangye, Stuart G.; Hurwitz, Jerard; Vivier, Eric; Casanova, Jean-Laurent; Smogorzewska, Agata; Jouanguy, Emmanuelle

Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia

HUMAN MUTATION

IF3.7

2016-02-236

OAAI

A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination

MOLECULAR CELL

IF16.6

2015-08-01232

OAAI

Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia

CELL REPORTS

IF6.9

2015-07-01123

OAAI

Comprehensive Analysis of Pathogenic Deletion Variants in Fanconi Anemia Genes

HUMAN MUTATION

IF3.7

2014-08-0139

OAAI

Human GEN1 and the SLX4-Associated Nucleases MUS81 and SLX1 Are Essential for the Resolution of Replication-Induced Holliday Junctions

CELL REPORTS

IF6.9

2013-10-01130

FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair

NATURE GENETICS

IF31.8

2012-07-08187

OAAI

Zhou, Weibin; Otto, Edgar A.; Cluckey, Andrew; Airik, Rannar; Hurd, Toby W.; Chaki, Moumita; Diaz, Katrina; Lach, Francis P.; Bennett, Geoffrey R.; Gee, Heon Yung; Ghosh, Amiya K.; Natarajan, Sivakumar; Thongthip, Supawat; Veturi, Uma; Allen, Susan J.; Janssen, Sabine; Ramaswami, Gokul; Dixon, Joanne; Burkhalter, Felix; Spoendlin, Martin; Moch, Holger; Mihatsch, Michael J.; Verine, Jerome; Reade, Richard; Soliman, Hany; Godin, Michel; Kiss, Denes; Monga, Guido; Mazzucco, Gianna; Amann, Kerstin; Artunc, Ferruh; Newland, Ronald C.; Wiech, Thorsten; Zschiedrich, Stefan; Huber, Tobias B.; Friedl, Andreas; Slaats, Gisela G.; Joles, Jaap A.; Goldschmeding, Roel; Washburn, Joseph; Giles, Rachel H.; Levy, Shawn; Smogorzewska, Agata; Hildebrandt, Friedhelm

Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency

JOURNAL OF CLINICAL INVESTIGATION

IF13.6

2012-03-01240