| Primary immunodeficiency diseases: genomic approaches delineate heterogeneous Mendelian disorders A Stray-Pedersen, HS Sorte, P Samarakoon, T Gambin, IK Chinn, ... Journal of Allergy and Clinical Immunology 139 (1), 232-245, 2017 | 277 | 2017 |
| The genetics and clinical manifestations of telomere biology disorders SA Savage, AA Bertuch Genetics in Medicine 12 (12), 753-764, 2010 | 275 | 2010 |
| Germline mutations in shelterin complex genes are associated with familial glioma MN Bainbridge, GN Armstrong, MM Gramatges, AA Bertuch, ... Journal of the National Cancer Institute 107 (1), dju384, 2015 | 221 | 2015 |
| The molecular genetics of the telomere biology disorders AA Bertuch RNA biology 13 (8), 696-706, 2016 | 180 | 2016 |
| Dyskeratosis congenita as a disorder of telomere maintenance ND Nelson, AA Bertuch Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 730 (1 …, 2012 | 177 | 2012 |
| ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants X Luo, S Feurstein, S Mohan, CC Porter, SA Jackson, S Keel, M Chicka, ... Blood Advances 3 (20), 2962-2979, 2019 | 131 | 2019 |
| A role for heterochromatin protein 1γ at human telomeres S Canudas, BR Houghtaling, M Bhanot, G Sasa, SA Savage, AA Bertuch, ... Genes & development 25 (17), 1807-1819, 2011 | 126 | 2011 |
| Distinct faces of the Ku heterodimer mediate DNA repair and telomeric functions A Ribes-Zamora, I Mihalek, O Lichtarge, AA Bertuch Nature structural & molecular biology 14 (4), 301-307, 2007 | 123 | 2007 |
| The Ku heterodimer performs separable activities at double-strand breaks and chromosome termini AA Bertuch, V Lundblad Molecular and cellular biology 23 (22), 8202-8215, 2003 | 123 | 2003 |
| Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia P Hermanns, AA Bertuch, TK Bertin, B Dawson, ME Schmitt, C Shaw, ... Human molecular genetics 14 (23), 3723-3740, 2005 | 120 | 2005 |
| EXO1 Contributes to Telomere Maintenance in Both Telomerase-Proficient and Telomerase-Deficient Saccharomyces cerevisiae AA Bertuch, V Lundblad Genetics 166 (4), 1651-1659, 2004 | 117 | 2004 |
| Proposal for the clinical detection and management of patients and their family members with familial myelodysplastic syndrome/acute leukemia predisposition syndromes JE Churpek, R Lorenz, S Nedumgottil, K Onel, OI Olopade, A Sorrell, ... Leukemia & lymphoma 54 (1), 28-35, 2013 | 114 | 2013 |
| Specific stimulation of simian virus 40 late transcription in vitro by a cellular factor binding the simian virus 40 21-base-pair repeat promoter element. CH Kim, C Heath, A Bertuch, U Hansen Proceedings of the National Academy of Sciences 84 (17), 6025-6029, 1987 | 106 | 1987 |
| Poly (ADP-ribose) polymerase inhibitor ABT-888 potentiates the cytotoxic activity of temozolomide in leukemia cells: influence of mismatch repair status and O 6-methylguanine … TM Horton, G Jenkins, D Pati, L Zhang, ME Dolan, A Ribes-Zamora, ... Molecular cancer therapeutics 8 (8), 2232-2242, 2009 | 104 | 2009 |
| Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome AL Kennedy, KC Myers, J Bowman, CJ Gibson, ND Camarda, E Furutani, ... Nature communications 12 (1), 1334, 2021 | 103 | 2021 |
| Somatic mutations and clonal hematopoiesis in congenital neutropenia J Xia, CA Miller, J Baty, A Ramesh, MRM Jotte, RS Fulton, TP Vogel, ... Blood, The Journal of the American Society of Hematology 131 (4), 408-416, 2018 | 102 | 2018 |
| Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood GS Sasa, A Ribes‐Zamora, ND Nelson, AA Bertuch Clinical genetics 81 (5), 470-478, 2012 | 101 | 2012 |
| Evaluation of patients and families with concern for predispositions to hematologic malignancies within the Hereditary Hematologic Malignancy Clinic (HHMC) CD DiNardo, SA Bannon, M Routbort, A Franklin, M Mork, M Armanios, ... Clinical Lymphoma Myeloma and Leukemia 16 (7), 417-428. e2, 2016 | 96 | 2016 |
| TRF2 interaction with Ku heterotetramerization interface gives insight into c-NHEJ prevention at human telomeres A Ribes-Zamora, SM Indiviglio, I Mihalek, CL Williams, AA Bertuch Cell reports 5 (1), 194-206, 2013 | 96 | 2013 |
| Consider the workhorse: Nonhomologous end-joining in budding yeast CH Emerson, AA Bertuch Biochemistry and cell biology 94 (5), 396-406, 2016 | 87 | 2016 |
