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R

Rebecca Truty

rabin medical center
H指数:27
被引数:1.8万

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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Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2023-04-0110
OAAI
Truty, Rebecca; Rojahn, Susan; Ouyang, Karen; Kautzer, Curtis; Kennemer, Michael; Pineda-Alvarez, Daniel; Johnson, Britt; Stafford, Amanda; Basel-Salmon, Lina; Saitta, Sulagna; Slavotinek, Anne; Chandrasekharappa, Settara C.; Suarez, Carlos Jose; Burnett, Leslie; Nussbaum, Robert L.; Aradhya, Swaroop
Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program

X连锁和其他遗传性低磷血症的分子诊断: 来自赞助的基因检测计划的结果

JOURNAL OF BONE AND MINERAL RESEARCH
IF5.9
2021-10-1125
OAAI
Rush, Eric T.; Johnson, Britt; Aradhya, Swaroop; Beltran, Daniel; Bristow, Sara L.; Eisenbeis, Scott; Guerra, Norma E.; Krolczyk, Stan; Miller, Nicole; Morales, Ana; Ramesan, Prameela; Sarafrazi, Soodabeh; Truty, Rebecca; Dahir, Kathryn
PIGG variant pathogenicity assessment reveals characteristic features within 19 families
GENETICS IN MEDICINE
IF6.2
2021-10-018
OAAI
Tremblay-Laganiere, Camille; Maroofian, Reza; Nguyen, Thi Tuyet Mai; Karimiani, Ehsan Ghayoor; Kirmani, Salman; Akbar, Fizza; Ibrahim, Shahnaz; Afroze, Bushra; Doosti, Mohammad; Ashrafzadeh, Farah; Babaei, Meisam; Efthymiou, Stephanie; Christoforou, Marilena; Sultan, Tipu; Ladda, Roger L.; McLaughlin, Heather M.; Truty, Rebecca; Mahida, Sonal; Cohen, Julie S.; Baranano, Kristin; Ismail, Fatima Y.; Patel, Millan S.; Lehman, Anna; Edmondson, Andrew C.; Nagy, Amanda; Walker, Melissa A.; Mercimek-Andrews, Saadet; Maki, Yuta; Sachdev, Rani; Macintosh, Rebecca; Palmer, Elizabeth E.; Mancini, Grazia M. S.; Barakat, Tahsin Stefan; Steinfeld, Robert; Rusch, Christina T.; Stettner, Georg M.; Wagner, Matias; Wortmann, Saskia B.; Kini, Usha; Brady, Angela F.; Stals, Karen L.; Ismayilova, Naila; Ellard, Sian; Bernardo, Danilo; Nugent, Kimberly; McLean, Scott D.; Antonarakis, Stylianos E.; Houlden, Henry; Kinoshita, Taroh; Campeau, Philippe M.; Murakami, Yoshiko
ATP1A3-Encoded Sodium-Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With Shortened QT Interval and Predisposition to Ventricular Fibrillation Preceded by Bradycardia
JOURNAL OF THE AMERICAN HEART ASSOCIATION
IF5.3
2021-09-079
OAAI
Moya-Mendez, Mary E.; Ogbonna, Chiagoziem; Ezekian, Jordan E.; Rosamilia, Michael B.; Prange, Lyndsey; de la Uz, Caridad; Kim, Jeffrey J.; Howard, Taylor; Garcia, John; Nussbaum, Robert; Truty, Rebecca; Callis, Thomas E.; Funk, Emily; Heyes, Matthew; Dear, Guy de Lisle; Carboni, Michael P.; Idriss, Salim F.; Mikati, Mohamad A.; Landstrom, Andrew P.
One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation
GENETICS IN MEDICINE
IF6.2
2021-09-0151
OAAI
Lincoln, Stephen E.; Hambuch, Tina; Zook, Justin M.; Bristow, Sara L.; Hatchell, Kathryn; Truty, Rebecca; Kennemer, Michael; Shirts, Brian H.; Fellowes, Andrew; Chowdhury, Shimul; Klee, Eric W.; Mahamdallie, Shazia; Cleveland, Megan H.; Vallone, Peter M.; Ding, Yan; Seal, Sheila; DeSilva, Wasanthi; Tomson, Farol L.; Huang, Catherine; Garlick, Russell K.; Rahman, Nazneen; Salit, Marc; Kingsmore, Stephen F.; Ferber, Matthew J.; Aradhya, Swaroop; Nussbaum, Robert L.
Jeffrey's insights: Jeffrey Modell Foundation's global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease management and treatment

Jeffrey's insights: Jeffrey Modell基金会的全球基因测序试点计划，用于识别特定的原发性免疫缺陷，以优化疾病管理和治疗

IMMUNOLOGIC RESEARCH
IF3.1
2020-05-2717
OAAI
Quinn, Jessica; Modell, Vicki; Holle, Jennifer; Truty, Rebecca; Aradhya, Swaroop; Johnson, Britt; Orange, Jordan; Modell, Fred

研究方向

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S
Swaroop Aradhya
H 指数:44论文数:182被引数:1.2万
R
Robert L. Nussbaum
H 指数:82论文数:500被引数:2.7万
B
Britt Johnson
H 指数:21论文数:114被引数:1,676
S
Sara L. Bristow
H 指数:15论文数:97被引数:889
J
Justin M. Zook
H 指数:54论文数:235被引数:1.8万
A
Ana Morales
H 指数:35论文数:122被引数:6,225
M
Marc Salit
H 指数:45论文数:270被引数:9,676
D
Dianalee McKnight
H 指数:32论文数:81被引数:4,299
K
Keith Nykamp
H 指数:24论文数:102被引数:2,499
S
Susan Rojahn
H 指数:11论文数:26被引数:633