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S

Sarah P. Young

Duke University Medical Center
H指数:41
被引数:5,405

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Corrigendum to “Early detection in action: developing and refining newborn screening for Pompe disease in North Carolina” [Mol. Genet. Med. 149 (1–2) (2026) 110252]

勘误表：“行动中的早期检测：在北卡罗来纳州开发和改进庞贝病新生儿筛查”[Mol. Genet. Med. 149 (1–2) (2026) 110252]

Molecular Genetics and Metabolism
IF3.5
2026-09-160
PRE
Molly M. Crenshaw; Erica B. Nading; Jamie Mills; Erin Huggins; Natalie Krohl; Deeksha Bali; Sarah P. Young; Ashlee R. Stiles; Kimberly Blake; Lara Percenti; Dee Pettit; Sam Freeman; Scott Shone; Edwin C. Ferren; Katherine J. Dempsey; Kayleigh Bright; Catherine Rehder; Priya S. Kishnani; Jennifer L. Cohen
A North Carolina Newborn Screening Pilot for Mucopolysaccharidosis II: Evaluating Endogenous Non-Reducing End Glycosaminoglycan Analysis and IDS Sequencing as Higher-Tier Testing Options

北卡罗来纳州黏多糖贮积症II型新生儿筛查试点：评估内源性非还原端糖胺聚糖分析和IDS测序作为高级别检测选项

Genetics in Medicine
IF6.2
2026-04-210
PREAI
Katerina S. Kucera; Kristin Clinard; Samantha L. Blake; Veronica R. Copeland; Brooke Migliore; Lindsay Torrice; Javan K. Carter; Julia N. Apoian; Kirstyn A. Tober; Evan Thorp; Lisa M. Gehtland; Scott M. Shone; Elizabeth R. Jalazo; Deeksha Bali; Sarah P. Young; Catherine W. Rehder; Melissa Raspa; Joseph Muenzer
Dissecting the effect of mitochondrial BCAT inhibition in methylmalonic acidemia

解析线粒体BCAT抑制在甲基丙二酸血症中的效应

JCI INSIGHT
IF6.1
2025-09-091
OA
Hemmingsen, Madeline G.; Zhang, Guo-Fang; Ma, Yunhan; Marchuk, Hannah; Patel, Kalyani R.; Chen, Tong; Li, Xinning; Chapman, Mark; Collias, Sabrina; Lopez-Terrada, Dolores H.; Beasley, James; Stiles, Ashlee R.; Chandler, Randy J.; Venditti, Charles P.; Young, Sarah P.; Barzi, Mercedes; Bissig-Choisat, Beatrice; Krafte, Doug; Newgard, Christopher B.; Bissig, Karl-Dimiter
Positional isomers of Indolyl-benzodiazepines display dissimilar binding and recruitment of BET transcriptional regulators to targeted genomic loci

吲哚-苯二氮䓬类化合物的位置异构体表现出对靶向基因组位点上的BET转录调控因子的不同结合与募集活性。

Bioorganic Chemistry
IF4.7
2025-08-050
PRE
Nilanjana Chowdhury; Stanley Nithianantham; Sudip Dey; Rafi Mohammed; Ashraf Mohammed; Kelly Churion; Walter Lang; Sarah Young; Steven J. Philips; Sourav Das; Bedabrata Ray; Anang Shelat; Marcus Fischer; Aseem Z. Ansari; Parasuraman Jaisankar
In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease
OBSTETRICAL & GYNECOLOGICAL SURVEY
IF3.6
2023-06-010
OA
Cohen, Jennifer L.; Chakraborty, Pranesh; Fung-Kee-Fung, Karen; Schwab, Marisa E.; Bali, Deeksha; Young, Sarah P.; Gelb, Michael H.; Khaledi, Hamid; DiBattista, Alicia; Smallshaw, Stacey; Moretti, Felipe; Wong, Derek; Lacroix, Catherine; El Demellawy, Dina; Strickland, Kyle C.; Lougheed, Jane; Moon-Grady, Anita; Lianoglou, Billie R.; Harmatz, Paul; Kishnani, Priya S.; MacKenzie, Tippi C.
Rescue of glutaric aciduria type I in mice by liver- directed therapies
SCIENCE TRANSLATIONAL MEDICINE
IF14.6
2023-04-196
OA
Barzi, Mercedes; Johnson, Collin G.; Chen, Tong; Rodriguiz, Ramona M.; Hemmingsen, Madeline; Gonzalez, Trevor J.; Rosales, Alan; Beasley, James; Peck, Cheryl K.; Ma, Yunhan; Stiles, Ashlee R.; Wood, Timothy C.; Maeso-Diaz, Raquel; Diehl, Anna Mae; Young, Sarah P.; Everitt, Jeffrey I.; Wetsel, William C.; Lagor, William R.; Bissig-Choisat, Beatrice; Asokan, Aravind; El-Gharbawy, Areeg; Bissig, Karl-Dimiter
In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease
NEW ENGLAND JOURNAL OF MEDICINE
IF78.5
2022-12-0840
OA
Cohen, Jennifer L.; Chakraborty, Pranesh; Fung-Kee-Fung, Karen; Schwab, Marisa E.; Bali, Deeksha; Young, Sarah P.; Gelb, Michael H.; Khaledi, Hamid; DiBattista, Alicia; Smallshaw, Stacey; Moretti, Felipe; Wong, Derek; Lacroix, Catherine; El Demellawy, Dina; Strickland, Kyle C.; Lougheed, Jane; Moon-Grady, Anita; Lianoglou, Billie R.; Harmatz, Paul; Kishnani, Priya S.; MacKenzie, Tippi C.

研究方向

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D
David S. Millington
H 指数:62论文数:322被引数:1.5万
P
Priya S. Kishnani
H 指数:75论文数:762被引数:2.2万
D
Dwight D. Koeberl
H 指数:43论文数:212被引数:6,224
H
Haoyue Zhang
H 指数:34论文数:174被引数:3,633
D
Deeksha Bali
H 指数:47论文数:199被引数:7,874
A
Ashlee R. Stiles
H 指数:11论文数:64被引数:844
C
Christiane Auray‐Blais
H 指数:38论文数:201被引数:4,067
J
James Beasley
H 指数:9论文数:19被引数:454
L
Laura E. Case
H 指数:33论文数:123被引数:9,529
J
Joe T.R. Clarke
H 指数:38论文数:167被引数:4,063