| Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer S Reid, D Schindler, H Hanenberg, K Barker, S Hanks, R Kalb, ... Nature genetics 39 (2), 162-164, 2007 | 740 | 2007 |
| Mutations of the SLX4 gene in Fanconi anemia Y Kim, FP Lach, R Desetty, H Hanenberg, AD Auerbach, ... Nature genetics 43 (2), 142-146, 2011 | 397 | 2011 |
| A genetic screen identifies FAN1, a Fanconi anemia-associated nuclease necessary for DNA interstrand crosslink repair A Smogorzewska, R Desetty, TT Saito, M Schlabach, FP Lach, ME Sowa, ... Molecular cell 39 (1), 36-47, 2010 | 393 | 2010 |
| Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency L Gineau, C Cognet, N Kara, FP Lach, J Dunne, U Veturi, C Picard, ... The Journal of clinical investigation 122 (3), 821-832, 2012 | 325 | 2012 |
| FANCI is a second monoubiquitinated member of the Fanconi anemia pathway AE Sims, E Spiteri, RJ Sims III, AG Arita, FP Lach, T Landers, M Wurm, ... Nature structural & molecular biology 14 (6), 564-567, 2007 | 321 | 2007 |
| A dominant mutation in human RAD51 reveals its function in DNA interstrand crosslink repair independent of homologous recombination AT Wang, T Kim, JE Wagner, BA Conti, FP Lach, AL Huang, H Molina, ... Molecular cell 59 (3), 478-490, 2015 | 298 | 2015 |
| FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair W Zhou, EA Otto, A Cluckey, R Airik, TW Hurd, M Chaki, K Diaz, FP Lach, ... Nature genetics 44 (8), 910-915, 2012 | 272 | 2012 |
| Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4 Y Kim, GS Spitz, U Veturi, FP Lach, AD Auerbach, A Smogorzewska Blood, The Journal of the American Society of Hematology 121 (1), 54-63, 2013 | 197 | 2013 |
| Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations M Castella, R Pujol, E Callén, JP Trujillo, JA Casado, H Gille, FP Lach, ... Blood, The Journal of the American Society of Hematology 117 (14), 3759-3769, 2011 | 161 | 2011 |
| Human GEN1 and the SLX4-associated nucleases MUS81 and SLX1 are essential for the resolution of replication-induced Holliday junctions E Garner, Y Kim, FP Lach, MC Kottemann, A Smogorzewska Cell reports 5 (1), 207-215, 2013 | 155 | 2013 |
| Deficiency of UBE2T, the E2 ubiquitin ligase necessary for FANCD2 and FANCI ubiquitination, causes FA-T subtype of Fanconi anemia KA Rickman, FP Lach, A Abhyankar, FX Donovan, EM Sanborn, ... Cell reports 12 (1), 35-41, 2015 | 148 | 2015 |
| Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency J Cottineau, MC Kottemann, FP Lach, YH Kang, F Vély, EK Deenick, ... The Journal of clinical investigation 127 (5), 1991-2006, 2017 | 140 | 2017 |
| Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia SC Chandrasekharappa, FP Lach, DC Kimble, A Kamat, JK Teer, ... Blood, The Journal of the American Society of Hematology 121 (22), e138-e148, 2013 | 111 | 2013 |
| Natural history and management of F anconi anemia patients with head and neck cancer: A 10‐year follow‐up DI Kutler, KR Patel, AD Auerbach, J Kennedy, FP Lach, E Sanborn, ... The Laryngoscope 126 (4), 870-879, 2016 | 94 | 2016 |
| Removal of RTF2 from stalled replisomes promotes maintenance of genome integrity MC Kottemann, BA Conti, FP Lach, A Smogorzewska Molecular cell 69 (1), 24-35. e5, 2018 | 60 | 2018 |
| Distinct roles of BRCA2 in replication fork protection in response to hydroxyurea and DNA interstrand cross-links KA Rickman, RJ Noonan, FP Lach, S Sridhar, AT Wang, A Abhyankar, ... Genes & development 34 (11-12), 832-846, 2020 | 59 | 2020 |
| A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families DC Kimble, FP Lach, SQ Gregg, FX Donovan, EK Flynn, A Kamat, ... Human mutation 39 (2), 237-254, 2018 | 51 | 2018 |
| Assessment of SLX4 mutations in hereditary breast cancers S Shah, Y Kim, I Ostrovnaya, R Murali, KA Schrader, FP Lach, K Sarrel, ... PloS one 8 (6), e66961, 2013 | 47 | 2013 |
| Comprehensive Analysis of Pathogenic Deletion Variants in F anconi Anemia Genes EK Flynn, A Kamat, FP Lach, FX Donovan, DC Kimble, N Narisu, ... Human mutation 35 (11), 1342-1353, 2014 | 46 | 2014 |
| Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer ALH Webster, MA Sanders, K Patel, R Dietrich, RJ Noonan, FP Lach, ... Nature 612 (7940), 495-502, 2022 | 45 | 2022 |
