Landscape of somatic retrotransposition in human cancers E Lee, R Iskow, L Yang, O Gokcumen, P Haseley, LJ Luquette III, JG Lohr, ... Science 337 (6097), 967-971, 2012 | 784 | 2012 |
Natural mutagenesis of human genomes by endogenous retrotransposons RC Iskow, MT McCabe, RE Mills, S Torene, WS Pittard, AF Neuwald, ... Cell 141 (7), 1253-1261, 2010 | 674 | 2010 |
Which transposable elements are active in the human genome? RE Mills, EA Bennett, RC Iskow, SE Devine Trends in genetics 23 (4), 183-191, 2007 | 575 | 2007 |
Evidence for 28 genetic disorders discovered by combining healthcare and research data J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai, RY Eberhardt, ... Nature 586 (7831), 757-762, 2020 | 405 | 2020 |
Recently mobilized transposons in the human and chimpanzee genomes RE Mills, EA Bennett, RC Iskow, CT Luttig, C Tsui, WS Pittard, SE Devine The American Journal of human genetics 78 (4), 671-679, 2006 | 197 | 2006 |
Exploring the role of copy number variants in human adaptation RC Iskow, O Gokcumen, C Lee Trends in Genetics 28 (6), 245-257, 2012 | 143 | 2012 |
IL-17A inhibition by secukinumab induces early clinical, histopathologic, and molecular resolution of psoriasis JG Krueger, KA Wharton Jr, T Schlitt, M Suprun, RI Torene, X Jiang, ... Journal of Allergy and Clinical Immunology 144 (3), 750-763, 2019 | 139 | 2019 |
Sex-based analysis of de novo variants in neurodevelopmental disorders TN Turner, AB Wilfert, TE Bakken, RA Bernier, MR Pepper, Z Zhang, ... The American Journal of Human Genetics 105 (6), 1274-1285, 2019 | 101 | 2019 |
Molecular diagnostic yield of exome sequencing in patients with cerebral palsy A Moreno-De-Luca, F Millan, DR Pesacreta, HZ Elloumi, MT Oetjens, ... Jama 325 (5), 467-475, 2021 | 88 | 2021 |
Serological and phylogenetic evidence of monotypic immune responses to different mumps virus strains S Rubin, J Mauldin, K Chumakov, J Vanderzanden, R Iskow, K Carbone Vaccine 24 (14), 2662-2668, 2006 | 79 | 2006 |
Changes in mumps virus neurovirulence phenotype associated with quasispecies heterogeneity CJ Sauder, KM Vandenburgh, RC Iskow, T Malik, KM Carbone, SA Rubin Virology 350 (1), 48-57, 2006 | 78 | 2006 |
Refinement of primate copy number variationhotspots identifies candidate genomic regions evolving under positive selection O Gokcumen, PL Babb, RC Iskow, Q Zhu, X Shi, RE Mills, I Ionita-Laza, ... Genome Biology 12, 1-11, 2011 | 72 | 2011 |
Primate genome architecture influences structural variation mechanisms and functional consequences O Gokcumen, V Tischler, J Tica, Q Zhu, RC Iskow, E Lee, MHY Fritz, ... Proceedings of the National Academy of Sciences 110 (39), 15764-15769, 2013 | 69 | 2013 |
Mobile element insertion detection in 89,874 clinical exomes RI Torene, K Galens, S Liu, K Arvai, C Borroto, J Scuffins, Z Zhang, ... Genetics in Medicine 22 (5), 974-978, 2020 | 55 | 2020 |
Analysis of variable retroduplications in human populations suggests coupling of retrotransposition to cell division A Abyzov, R Iskow, O Gokcumen, DW Radke, S Balasubramanian, B Pei, ... Genome research 23 (12), 2042-2052, 2013 | 55 | 2013 |
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases E Perenthaler, A Nikoncuk, S Yousefi, WM Berdowski, M Alsagob, I Capo, ... Acta neuropathologica 139, 415-442, 2020 | 52 | 2020 |
Germline pathogenic variants identified in women with ovarian tumors NJ Carter, ML Marshall, LR Susswein, KK Zorn, S Hiraki, KJ Arvai, ... Gynecologic oncology 151 (3), 481-488, 2018 | 52 | 2018 |
Regulatory element copy number differences shape primate expression profiles RC Iskow, O Gokcumen, A Abyzov, J Malukiewicz, Q Zhu, AT Sukumar, ... Proceedings of the National Academy of Sciences 109 (31), 12656-12661, 2012 | 47 | 2012 |
Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai, RY Eberhardt, ... biorxiv, 797787, 2019 | 46 | 2019 |
Omalizumab normalizes the gene expression signature of lesional skin in patients with chronic spontaneous urticaria: a randomized, double‐blind, placebo‐controlled study M Metz, R Torene, S Kaiser, MT Beste, P Staubach, A Bauer, R Brehler, ... Allergy 74 (1), 141-151, 2019 | 45 | 2019 |