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R

Rebecca I. Torene

Geisinger
H指数:16
被引数:1,711

个人简介

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教育背景

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工作经历

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荣誉奖项

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Testing the performance of polygenic scores for multiple traits to explain cerebral palsy in two independent cohorts

测试多基因评分在多个性状上对脑瘫的解释性能，基于两个独立队列。

eBioMedicine
IF10.8
2026-03-140
OAAI
Jodi T. Thomas; Alexander S.F. Berry; Matthew T. Oetjens; Jesia G. Berry; Alastair H. MacLennan; Scott D. Gordon; Andrew T. Hale; Catherine M. Olsen; David C. Whiteman; Rebecca I. Torene; David H. Ledbetter; Nicholas G. Martin; Clare L. van Eyk; Jozef Gecz; Scott M. Myers; Brittany L. Mitchell; Mark A. Corbett
Multiscore, a gene ranker powered by artificial intelligence and real-world clinical data, shows high sensitivity for the molecular diagnosis of Mendelian disorders in nearly 10,000 exomes and genomes

Multiscore，一种由人工智能和真实世界临床数据驱动的基因排序器，在近10,000个外显子和基因组中对孟德尔疾病的分子诊断显示出高敏感性。

Human Genetics
IF3.6
2026-02-160
OAAI
Vincent D. Ustach; Maria J. Guillen Sacoto; Stephen McGee; Vladimir G. Gainullin; Kevin Arvai; Amber Begtrup; Flavia M. Facio; Matthew Greenberg; Hákon Guðbjartsson; Kirsty McWalter; Francisca Millán; Kristin Monaghan; Kyle Retterer; Gabriele Richard; Nadav Topaz; Rebecca Torene; Britt Johnson; Timothy Laurent
Clinical manifestations of VEXAS syndrome across a broad spectrum of UBA1 mutation burden

VEXAS综合征的临床表现横跨UBA1突变负荷的广泛谱系

Arthritis & Rheumatology
IF10.9
2025-07-210
PRE
Meghan Anderson D.O.; Defne Ercelen B.S.; Ashley Richardson M.S.; Jung Kim Ph.D.; Rebecca I. Torene Ph.D.; Maria Sirenko Ph.D.; Jeremy S. Haley M.S.; Adam Cook M.S.; Wesley Hill B.A.; James Dove B.A.; Kyle Retterer M.S.; Eitan Carroll B.A.; David J. Carey Ph.D.; Samira Asgari Ph.D.; Douglas R. Stewart M.D.; David B. Beck M.D., Ph.D.
Monogenic disorders associated with motor speech phenotypes in children and adolescents undergoing clinical exome sequencing

与进行临床外显子测序的儿童和青少年运动性言语表型相关的单基因病

GENETICS IN MEDICINE
IF6.2
2025-02-010
OAAI
Mitchel, Marissa W.; Oetjens, Matthew; Berry, Alexander S. F.; Johns, Alicia; Moreno-De-Luca, Andres; Torene, Rebecca I.; Strande, Natasha T.; Distefano, Marina T.; Dyer, Lindsay Havens; Brandt, Tracy; Finucane, Brenda M.; Retterer, Kyle; Martin, Christa L.; Myers, Scott M.
Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions

使用基因组测序扩展新生儿筛查早期可行条件

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
IF55
2025-01-213
PRE
Ziegler, Alban; Koval-Burt, Carrie; Kay, Denise M.; Suchy, Sharon F.; Begtrup, Amber; Langley, Katherine G.; Hernan, Rebecca; Amendola, Laura M.; Boyd, Brenna M.; Bradley, Jennifer; Brandt, Tracy; Cohen, Lilian L.; Coffey, Alison J.; Devaney, Joseph M.; Dygulska, Beata; Friedman, Bethany; Fuleihan, Ramsay L.; Gyimah, Awura; Hahn, Sihoun; Hofherr, Sean; Hruska, Kathleen S.; Hu, Zhanzhi; Jeanne, Mederic; Jin, Guanjun; Johnson, D. Aaron; Kavus, Haluk; Leibel, Rudolph L.; Lobritto, Steven J.; McGee, Stephen; Milner, Joshua D.; McWalter, Kirsty; Monaghan, Kristin G.; Orange, Jordan S.; Pimentel Soler, Nicole; Quevedo, Yeyson; Ratner, Samantha; Retterer, Kyle; Shah, Ankur; Shapiro, Natasha; Sicko, Robert J.; Silver, Eric S.; Strom, Samuel; Torene, Rebecca I.; Williams, Olatundun; Ustach, Vincent D.; Wynn, Julia; Taft, Ryan J.; Kruszka, Paul; Caggana, Michele; Chung, Wendy K.
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations
NATURE GENETICS
IF31.8
2024-09-231
OAAI
Chundru, V. Kartik; Zhang, Zhancheng; Walter, Klaudia; Lindsay, Sarah J.; Danecek, Petr; Eberhardt, Ruth Y.; Gardner, Eugene J.; Malawsky, Daniel S.; Wigdor, Emilie M.; Torene, Rebecca; Retterer, Kyle; Wright, Caroline F.; Olafsdottir, Hildur; Sacoto, Maria J. Guillen; Ayaz, Akif; Akbeyaz, Ismail Hakki; Tuerkdogan, Dilsad; Al Balushi, Aaisha Ibrahim; Bertoli-Avella, Aida; Bauer, Peter; Szenker-Ravi, Emmanuelle; Reversade, Bruno; Mcwalter, Kirsty; Sheridan, Eamonn; Firth, Helen V.; Hurles, Matthew E.; Samocha, Kaitlin E.; Ustach, Vincent D.; Martin, Hilary C.
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts
NATURE MEDICINE
IF50
2023-03-066
PRE
Kundishora, Adam J.; Allington, Garrett; McGee, Stephen; Mekbib, Kedous Y.; Gainullin, Vladimir; Timberlake, Andrew T.; Nelson-Williams, Carol; Kiziltug, Emre; Smith, Hannah; Ocken, Jack; Shohfi, John; Allocco, August; Duy, Phan Q.; Elsamadicy, Aladine A.; Dong, Weilai; Zhao, Shujuan; Wang, Yung-Chun; Qureshi, Hanya M.; DiLuna, Michael L.; Mane, Shrikant; Tikhonova, Irina R.; Fu, Po-Ying; Castaldi, Christopher; Lopez-Giraldez, Francesc; Knight, James R.; Furey, Charuta G.; Carter, Bob S.; Haider, Shozeb; Moreno-De-Luca, Andres; Alper, Seth L.; Gunel, Murat; Millan, Francisca; Lifton, Richard P.; Torene, Rebecca I.; Jin, Sheng Chih; Kahle, Kristopher T.
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

大脑中UGP2的缺失导致严重的癫痫性脑病，强调必需基因的双等位基因亚型特异性起始缺失突变可导致遗传性疾病

ACTA NEUROPATHOLOGICA
IF9.3
2019-12-0940
OAAI
Perenthaler, Elena; Nikoncuk, Anita; Yousefi, Soheil; Berdowski, Woutje M.; Alsagob, Maysoon; Capo, Ivan; van der Linde, Herma C.; van den Berg, Paul; Jacobs, Edwin H.; Putar, Darija; Ghazvini, Mehrnaz; Aronica, Eleonora; van IJcken, Wilfred F. J.; de Valk, Walter G.; Medici-van den Herik, Evita; van Slegtenhorst, Marjon; Brick, Lauren; Kozenko, Mariya; Kohler, Jennefer N.; Bernstein, Jonathan A.; Monaghan, Kristin G.; Begtrup, Amber; Torene, Rebecca; Al Futaisi, Amna; Al Murshedi, Fathiya; Mani, Renjith; Al Azri, Faisal; Kamsteeg, Erik-Jan; Mojarrad, Majid; Eslahi, Atieh; Khazaei, Zaynab; Darmiyan, Fateme Massinaei; Doosti, Mohammad; Karimiani, Ehsan Ghayoor; Vandrovcova, Jana; Zafar, Faisal; Rana, Nuzhat; Kandaswamy, Krishna K.; Hertecant, Jozef; Bauer, Peter; AlMuhaizea, Mohammed A.; Salih, Mustafa A.; Aldosary, Mazhor; Almass, Rawan; Al-Quait, Laila; Qubbaj, Wafa; Coskun, Serdar; Alahmadi, Khaled O.; Hamad, Muddathir H. A.; Alwadaee, Salem; Awartani, Khalid; Dababo, Anas M.; Almohanna, Futwan; Colak, Dilek; Dehghani, Mohammadreza; Mehrjardi, Mohammad Yahya Vahidi; Gunel, Murat; Ercan-Sencicek, A. Gulhan; Passi, Gouri Rao; Cheema, Huma Arshad; Efthymiou, Stephanie; Houlden, Henry; Bertoli-Avella, Aida M.; Brooks, Alice S.; Retterer, Kyle; Maroofian, Reza; Kaya, Namik; van Ham, Tjakko J.; Barakat, Tahsin Stefan
IL-17A inhibition by secukinumab induces early clinical, histopathologic, and molecular resolution of psoriasis

secukinumab的IL-17A抑制作用可诱导牛皮癣的早期临床，组织病理学和分子分辨率

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
IF11.2
2019-09-01136
OAAI
Krueger, James G.; Wharton, Keith A., Jr.; Schlitt, Thomas; Suprun, Maria; Torene, Rebecca I.; Jiang, Xiaoyu; Wang, Claire Q.; Fuentes-Duculan, Judilyn; Hartmann, Nicole; Peters, Thomas; Koroleva, Irina; Hillenbrand, Rainer; Letzkus, Martin; Yu, Xiaojing; Li, Yue; Glueck, Anton; Hasselberg, Anke; Flannery, Brian; Suarez-Farinas, Mayte; Hueber, Wolfgang

研究方向

暂未获取到该数据
K
Kyle Retterer
H 指数:43论文数:103被引数:7,999
M
Matthew T. Oetjens
H 指数:25论文数:80被引数:3,063
S
Stephen McGee
H 指数:7论文数:16被引数:191
F
Francisca Millan
H 指数:30论文数:65被引数:3,313
V
Vladimir G. Gainullin
H 指数:16论文数:69被引数:2,238
D
David H. Ledbetter
H 指数:112论文数:493被引数:5.8万
A
Andrés Moreno-De-Luca
H 指数:23论文数:68被引数:3,258
K
Kirsty McWalter
H 指数:36论文数:152被引数:3,853
V
Vincent D. Ustach
H 指数:9论文数:22被引数:371
K
Kevin J. Arvai
H 指数:10论文数:23被引数:1,159