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S

Stuart A. Scott

Stanford University
H指数:63
被引数:1.6万

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荣誉奖项

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De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and Counseling

常染色体隐性条件相关的全新变异：病例系列及其对遗传检测和咨询的启示

American Journal of Medical Genetics Part A
IF1.7
2026-09-010
PRE
Niehaus, Annie D.; Bonner, Devon E.; Carter, Jennefer; Avello, Kayleigh; Jacob, Natalie; Neu, Matthew B.; Mendez, Rodrigo; Qiao, Wanqiong; Scott, Stuart A.; Levy, Rebecca J.; Mattas, Lauren; Schymick, Jennifer; Van Andel, Michael; Muntoni, Francesco; Mueller, Juliane; Sarkozy, Anna; DiTroia, Stephanie; O'Leary, Melanie; Neale, Ashana; O'Donnell-Luria, Anne; Toro, Camilo; Wolfe, Lynne A.; Martinez-Agosto, Julian A.; Montgomery, Stephen B.; Wheeler, Matthew T.; Bernstein, Jonathan A.; Tise, Christina G.
Biallelic Variants in RNU6ATAC Result in a Minor Spliceopathy Characterized by Transcriptome-Wide Minor Intron Retention Events and Short Stature with Variable Multisystem Manifestations

RNU6ATAC基因的双等位基因变异导致一种次要剪接障碍，其特征为转录组范围的次要内含子滞留事件、身材矮小以及多变的全身性表现。

Human Genetics and Genomics Advances
IF3.6
2026-03-090
OAAI
Rodrigo Mendez; Taylor M. Arriaga; Jialan Ma; Devon E. Bonner; Sara Emami; Rebecca J. Levy; Afaf Alsagheir; Bader Alhaddad; Khadijah Bakur; Rachel A. Ungar; Dena R. Matalon; Alexander M. Miller; Jonathan Nguyen; Kevin S. Smith; Stuart A. Scott; Linda Liao; Zena Ng; Shruti Marwaha; Alistair Ward; Danica Novacic
Drivers of differential antibody breadth in SARS-CoV-2 mRNA vaccination and infection

SARS-CoV-2 mRNA疫苗接种和感染中差异抗体宽度的驱动因素

JOURNAL OF IMMUNOLOGY
IF3.4
2025-11-010
PRE
Fabian Wirz, Oliver; Kotagiri, Prasanti; Haraguchi, Emily; Roltgen, Katharina; Hunter, Molly; Craig, Erin; Afaghani, Jumana; Lee, Ji-Yeun; Nielsen, Sandra C. A.; Hoh, Ramona A.; Pursell, Taylor; Arunachalam, Prabhu S.; Chang, Iris; Manohar, Monali; Schuetz, Jackson; Lam, Brandon; Fernandes, Andrea; Do, Even; Smith, Donna; Ha, Brian; Liao, Linda; Ho, Chandler; Wohlstadter, Jacob N.; Sigal, George B.; Scott, Stuart A.; Van Slyck, Sean; Davis, Mark M.; Pulendran, Bali; Minshull, Jeremy; Pinsky, Benjamin A.; Nadeau, Kari Christine; Niemann, Claus; Yang, Fan; Boyd, Scott
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies

转录组范围离群值方法识别具有微小剪接病变的个体

american journal of human genetics
IF0
2025-09-190
OA
Taylor M. Arriaga; Rodrigo Mendez; Rachel A. Ungar; Devon E. Bonner; Dena R. Matalon; Gabrielle Lemire; Pagé C. Goddard; Evin M. Padhi; Alexander M. Miller; Jonathan V. Nguyen; Jialan Ma; Kevin S. Smith; Stuart A. Scott; Linda Liao; Zena Ng; Shruti Marwaha; Guney Bademci; Stephanie A. Bivona; Mustafa Tekin; Jonathan A. Bernstein; Stephen B. Montgomery; Anne O’Donnell-Luria; Matthew T. Wheeler; Vijay S. Ganesh
Progress in Pharmacogenomics Implementation in the United States: Barrier Erosion and Remaining Challenges

美国药物基因组学实施进展：障碍侵蚀与遗留挑战

Clinical Pharmacology & Therapeutics
IF5.5
2025-06-040
OAAI
D. Max Smith; Michael P. Douglas; Christina L. Aquilante; Patricia A. Deverka; Beth Devine; Henry M. Dunnenberger; Philip E. Empey; Daniel L. Hertz; Andrew A. Monte; Ann M. Moyer; Jai N. Patel; Victoria M. Pratt; Loren Saulsberry; Stuart A. Scott; Deepak Voora; Erica L. Woodahl; Michelle Whirl-Carrillo; Akinyemi Oni-Orisan; the Pharmacogenomics Global Research Network (PGRN) Publications Committee
Discovery of ancestry-specific variants associated with clopidogrel response among Caribbean Hispanics

加勒比西班牙裔中与氯吡格雷反应相关的祖源特异性变异的发现

NPJ GENOMIC MEDICINE
IF4.8
2025-03-070
OA
Yang, Guang; Gonzalez, Pablo; Monero, Mariangeli; Carrasquillo, Kelvin; Renta, Jessicca Y.; Hernandez-Suarez, Dagmar F.; Botton, Mariana R.; Melin, Kyle; Scott, Stuart A.; Ruano, Gualberto; Roche-Lima, Abiel; Alarcon, Cristina; Ritchie, Marylyn D.; Perera, Minoli A.; Duconge, Jorge
DPYD Genotyping Recommendation: A Joint Consensus Recommendation of the Association for Molecular Pathology, American College of Medical Genetics and Genomics, Clinical Pharmacogenetics Implementation Consortium, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, European Society for Pharmacogenomics and Personalized Therapy, Pharmacogenomics Knowledgebase, and Pharmacogene Variation Consortium
JOURNAL OF MOLECULAR DIAGNOSTICS
IF3.4
2024-10-0114
PRE
Pratt, Victoria M.; Cavallari, Larisa H.; Fulmer, Makenzie L.; Gaedigk, Andrea; Hachad, Houda; Ji, Yuan; V. Kalman, Lisa; Ly, Reynold C.; Moyer, Ann M.; Scott, Stuart A.; Turner, Amy J.; Schaik, Ron H. N. van; Whirl-Carrillo, Michelle; Weck, Karen E.
A Joint Consensus Recommendation of the Association for Molecular Pathology, Clinical Pharmacogenetics Implementation Consortium, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, European Society for Pharmacogenomics and Personalized Therapy, and Pharmacogenomics Knowledgebase
JOURNAL OF MOLECULAR DIAGNOSTICS
IF3.4
2023-09-0130
OAAI
Pratt, Victoria M.; Cavallari, Larisa H.; Fulmer, Makenzie L.; Gaedigk, Andrea; Hachad, Houda; Ji, Yuan; Kalman, Lisa, V; Ly, Reynold C.; Moyer, Ann M.; Scott, Stuart A.; van Schaik, Ron H. N.; Whirl-Carrillo, Michelle; Weck, Karen E.
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6, CYP2C19, CYP2B6, SLC6A4, and HTR2A Genotypes and Serotonin Reuptake Inhibitor Antidepressants

CYP2D6，CYP2C19，CYP2B6，SLC6A4和HTR2A基因型和5-羟色胺再摄取抑制剂抗抑郁药的临床药物遗传学实施联盟 (CPIC) 指南

CLINICAL PHARMACOLOGY & THERAPEUTICS
IF5.5
2023-05-30138
OAAI
Bousman, Chad A.; Stevenson, James M.; Ramsey, Laura B.; Sangkuhl, Katrin; Hicks, J. Kevin; Strawn, Jeffrey R.; Singh, Ajeet B.; Ruano, Gualberto; Mueller, Daniel J.; Tsermpini, Evangelia Eirini; Brown, Jacob T.; Bell, Gillian C.; Leeder, J. Steven; Gaedigk, Andrea; Scott, Stuart A.; Klein, Teri E.; Caudle, Kelly E.; Bishop, Jeffrey R.

研究方向

暂未获取到该数据
T
Teri E. Klein
H 指数:110论文数:506被引数:5.0万
V
Victoria M. Pratt
H 指数:43论文数:183被引数:6,214
A
Andrea Gaedigk
H 指数:71论文数:332被引数:2.0万
L
Larisa H. Cavallari
H 指数:58论文数:378被引数:1.0万
M
Michelle Whirl‐Carrillo
H 指数:55论文数:142被引数:1.7万
L
Lisa Edelmann
H 指数:42论文数:138被引数:7,487
R
Robert J. Desnick
H 指数:111论文数:1,268被引数:4.5万
J
Jean‐Sébastien Hulot
H 指数:79论文数:475被引数:2.8万
A
Ann M. Moyer
H 指数:34论文数:205被引数:4,105
K
Katrin Sangkuhl
H 指数:48论文数:93被引数:1.4万