| LINE-1 retrotransposition activity in human genomes CR Beck, P Collier, C Macfarlane, M Malig, JM Kidd, EE Eichler, ... Cell 141 (7), 1159-1170, 2010 | 663 | 2010 |
| LINE-1 elements in structural variation and disease CR Beck, JL Garcia-Perez, RM Badge, JV Moran Annual review of genomics and human genetics 12, 187-215, 2011 | 642 | 2011 |
| Extrachromosomal DNA is associated with oncogene amplification and poor outcome across multiple cancers H Kim, NP Nguyen, K Turner, S Wu, AD Gujar, J Luebeck, J Liu, ... Nature genetics 52 (9), 891-897, 2020 | 298 | 2020 |
| 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 |
| Mus81 and converging forks limit the mutagenicity of replication fork breakage R Mayle, IM Campbell, CR Beck, Y Yu, M Wilson, CA Shaw, L Bjergbaek, ... Science 349 (6249), 742-747, 2015 | 190 | 2015 |
| Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes B Yuan, D Pehlivan, E Karaca, N Patel, WL Charng, T Gambin, ... The Journal of clinical investigation 125 (2), 636-651, 2015 | 181 | 2015 |
| Assessing structural variation in a personal genome—towards a human reference diploid genome AC English, WJ Salerno, OA Hampton, C Gonzaga-Jauregui, S Ambreth, ... BMC genomics 16, 1-15, 2015 | 158 | 2015 |
| PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia A Stray-Pedersen, PH Backe, HS Sorte, L Mørkrid, NY Chokshi, ... The American Journal of Human Genetics 95 (1), 96-107, 2014 | 158 | 2014 |
| The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles PM Boone, B Yuan, IM Campbell, JC Scull, MA Withers, BC Baggett, ... The American Journal of Human Genetics 95 (2), 143-161, 2014 | 104 | 2014 |
| Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3 S Gu, BO Yuan, IM Campbell, CR Beck, CMB Carvalho, SCS Nagamani, ... Human molecular genetics 24 (14), 4061-4077, 2015 | 96 | 2015 |
| POGZ truncating alleles cause syndromic intellectual disability J White, CR Beck, T Harel, JE Posey, SN Jhangiani, S Tang, KD Farwell, ... Genome Medicine 8, 1-11, 2016 | 95 | 2016 |
| Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements X Song, CR Beck, R Du, IM Campbell, Z Coban-Akdemir, S Gu, ... Genome Research 28 (8), 1228-1242, 2018 | 87 | 2018 |
| Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination IM Campbell, T Gambin, P Dittwald, CR Beck, A Shuvarikov, P Hixson, ... BMC biology 12, 1-10, 2014 | 84 | 2014 |
| PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations M Wang, CR Beck, AC English, Q Meng, C Buhay, Y Han, ... BMC genomics 16, 1-12, 2015 | 79 | 2015 |
| Hotspots of human mutation AV Nesta, D Tafur, CR Beck Trends in Genetics 37 (8), 717-729, 2021 | 75 | 2021 |
| Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication CR Beck, CMB Carvalho, L Banser, T Gambin, D Stubbolo, B Yuan, ... PLoS genetics 11 (3), e1005050, 2015 | 69 | 2015 |
| Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders D Porubsky, W Höps, H Ashraf, PH Hsieh, B Rodriguez-Martin, F Yilmaz, ... Cell 185 (11), 1986-2005. e26, 2022 | 67 | 2022 |
| Megabase length hypermutation accompanies human structural variation at 17p11. 2 CR Beck, CMB Carvalho, ZC Akdemir, FJ Sedlazeck, X Song, Q Meng, ... Cell 176 (6), 1310-1324. e10, 2019 | 65 | 2019 |
| Recurrent HERV‐H‐Mediated 3q13. 2–q13. 31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays A Shuvarikov, IM Campbell, P Dittwald, NJ Neill, MG Bialer, C Moore, ... Human mutation 34 (10), 1415-1423, 2013 | 52 | 2013 |
| Curcumin facilitates a transitory cellular stress response in Trembler-J mice Y Okamoto, D Pehlivan, W Wiszniewski, CR Beck, GJ Snipes, JR Lupski, ... Human molecular genetics 22 (23), 4698-4705, 2013 | 51 | 2013 |
