关注
Rebecca Torene
Rebecca Torene
Postdoctoral research fellow, Harvard Medical School, Brigham and Women's Hospital
在 partners.org 的电子邮件经过验证
标题
引用次数
引用次数
年份
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
7842012
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
6742010
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
5752007
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
4052020
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
1972006
Exploring the role of copy number variants in human adaptation
RC Iskow, O Gokcumen, C Lee
Trends in Genetics 28 (6), 245-257, 2012
1432012
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
1392019
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
1012019
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
882021
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
792006
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
782006
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
722011
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
692013
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
552020
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
552013
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
522020
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
522018
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
472012
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
462019
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
452019
系统目前无法执行此操作,请稍后再试。
文章 1–20