| Low incidence of DNA sequence variation in human induced pluripotent stem cells generated by nonintegrating plasmid expression L Cheng, NF Hansen, L Zhao, Y Du, C Zou, FX Donovan, BK Chou, ... Cell stem cell 10 (3), 337-344, 2012 | 293 | 2012 |
| 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 | 139 | 2015 |
| 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 | 109 | 2013 |
| Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation L Mirabello, PP Khincha, SR Ellis, N Giri, S Brodie, ... Journal of medical genetics 54 (6), 417-425, 2017 | 73 | 2017 |
| Neuroanatomic, epigenetic and genetic differences in monozygotic twins discordant for attention deficit hyperactivity disorder YC Chen, G Sudre, W Sharp, F Donovan, SC Chandrasekharappa, ... Molecular psychiatry 23 (3), 683-690, 2018 | 65 | 2018 |
| iPSCs and fibroblast subclones from the same fibroblast population contain comparable levels of sequence variations EM Kwon, JP Connelly, NF Hansen, FX Donovan, T Winkler, BW Davis, ... Proceedings of the National Academy of Sciences 114 (8), 1964-1969, 2017 | 62 | 2017 |
| Somatic mutational landscape of AML with inv (16) or t (8; 21) identifies patterns of clonal evolution in relapse leukemia R Sood, NF Hansen, FX Donovan, B Carrington, D Bucci, B Maskeri, ... Leukemia 30 (2), 501-504, 2016 | 57 | 2016 |
| Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50 SC Chandrasekharappa, SB Chinn, FX Donovan, NI Chowdhury, ... Cancer 123 (20), 3943-3954, 2017 | 52 | 2017 |
| Deficiency of interleukin-1 receptor antagonist (DIRA): report of the first Indian patient and a novel deletion affecting IL1RN LO Mendonca, L Malle, FX Donovan, SC Chandrasekharappa, ... Journal of Clinical Immunology 37 (5), 445–451, 2017 | 49 | 2017 |
| 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 | 45 | 2018 |
| 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 | 43 | 2014 |
| Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype RS Asur, DC Kimble, FP Lach, M Jung, FX Donovan, A Kamat, ... Molecular genetics & genomic medicine 6 (1), 77-91, 2018 | 35 | 2018 |
| Whole-exome sequencing for diagnosis of Turner syndrome: toward next-generation sequencing and newborn screening DR Murdock, FX Donovan, SC Chandrasekharappa, N Banks, C Bondy, ... The Journal of Clinical Endocrinology & Metabolism 102 (5), 1529-1537, 2017 | 35 | 2017 |
| Association of clinical severity with FANCB variant type in Fanconi anemia M Jung, R Ramanagoudr-Bhojappa, S van Twest, RO Rosti, V Murphy, ... Blood, The Journal of the American Society of Hematology 135 (18), 1588-1602, 2020 | 31 | 2020 |
| 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 | 29 | 2022 |
| Regulation of Alr1 Mg transporter activity by intracellular magnesium PH Lim, NP Pisat, N Gadhia, A Pandey, FX Donovan, L Stein, DE Salt, ... PLoS One 6 (6), e20896, 2011 | 27 | 2011 |
| Exome sequencing and high-density microarray testing in monozygotic twin pairs discordant for features of VACTERL association BD Solomon, DE Pineda-Alvarez, DW Hadley, NF Hansen, A Kamat, ... Molecular Syndromology 4 (1-2), 27-31, 2013 | 22 | 2013 |
| A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India FX Donovan, A Solanki, M Mori, N Chavan, M George, Y Okuno, ... Human mutation 41 (1), 122-128, 2020 | 11 | 2020 |
| Fanconi anemia pathway deficiency drives copy number variation in squamous cell carcinomas ALH Webster, MA Sanders, K Patel, R Dietrich, RJ Noonan, FP Lach, ... Biorxiv, 2021.08. 14.456365, 2021 | 10 | 2021 |
| Studies of a mosaic patient with DBA and chimeric mice reveal erythroid cell–extrinsic contributions to erythropoiesis RT Doty, X Fan, DJ Young, J Liang, K Singh, Z Pakbaz, R Desmond, ... Blood, The Journal of the American Society of Hematology 139 (23), 3439-3449, 2022 | 9 | 2022 |
