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V

Vincent J. Carson

Clinic for Special Children
H指数:7
被引数:432

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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De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2020-10-0116
OAAI
Mendoza-Ferreira, Natalia; Karakaya, Mert; Cengiz, Nur; Beijer, Danique; Brigatti, Karlla W.; Gonzaga-Jauregui, Claudia; Fuhrmann, Nico; Hoelker, Irmgard; Thelen, Maximilian P.; Zetzsche, Sebastian; Rombo, Roman; Puffenberger, Erik G.; De Jonghe, Peter; Deconinck, Tine; Zuchner, Stephan; Strauss, Kevin A.; Carson, Vincent; Schrank, Bertold; Wunderlich, Gilbert; Baets, Jonathan; Wirth, Brunhilde
Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes

支链 α-酮酸脱氢酶缺乏症 (枫糖浆尿病): 治疗，生物标志物和结果

MOLECULAR GENETICS AND METABOLISM
IF3.5
2020-03-01110
OAAI
Strauss, Kevin A.; Carson, Vincent J.; Soltys, Kyle; Young, Millie E.; Bowser, Lauren E.; Puffenberger, Erik G.; Brigatti, Karlla W.; Williams, Katie B.; Robinson, Donna L.; Hendrickson, Christine; Beiler, Keturah; Taylor, Cora M.; Haas-Givler, Barbara; Chopko, Stephanie; Hailey, Jennifer; Muelly, Emilie R.; Shellmer, Diana A.; Radcliff, Zachary; Rodrigues, Ashlin; Loeven, KaLynn; Heaps, Adam D.; Mazariegos, George, V; Morton, D. Holmes
Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier
MOLECULAR GENETICS AND METABOLISM
IF3.5
2019-04-0133
PREAI
Bowser, Lauren E.; Young, Millie; Wenger, Olivia K.; Ammous, Zineb; Brigatti, Karlla W.; Carson, Vincent J.; Moser, Teresa; Deline, James; Aoki, Kazuhiro; Morlet, Thierry; Scott, Ethan M.; Puffenberger, Erik G.; Robinson, Donna L.; Hendrickson, Christine; Salvin, Jonathan; Gottlieb, Steven; Heaps, Adam D.; Tiemeyer, Michael; Strauss, Kevin A.
Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease

影响酪氨酰-tRNA合成酶 (YARS) 催化结构域的突变的纯合性导致多系统疾病

HUMAN MOLECULAR GENETICS
IF3.2
2018-10-0922
OAAI
Williams, Katie B.; Brigatti, Karlla W.; Puffenberger, Erik G.; Gonzaga-Jauregui, Claudia; Griffin, Laurie B.; Martinez, Erick D.; Wenger, Olivia K.; Yoder, Mark A.; Kandula, Vinay V. R.; Fox, Michael D.; Demczko, Matthew M.; Poskitt, Laura; Furuya, Katryn N.; Reid, Jeffrey G.; Overton, John D.; Baras, Aris; Miles, Lili; Radhakrishnan, Kadakkal; Carson, Vincent J.; Antonellis, Anthony; Jinks, Robert N.; Strauss, Kevin A.

研究方向

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E
Erik G. Puffenberger
H 指数:55论文数:138被引数:1.1万
K
Kevin A. Strauss
H 指数:55论文数:187被引数:9,784
K
Karlla W. Brigatti
H 指数:20论文数:56被引数:1,748
L
Lauren E. Bowser
H 指数:6论文数:8被引数:369
C
Claudia Gonzaga‐Jauregui
H 指数:48论文数:163被引数:1.3万
M
Millie Young
H 指数:10论文数:19被引数:520
P
Philip H. Iffland
H 指数:14论文数:35被引数:636
P
Peter B. Crino
H 指数:69论文数:228被引数:1.8万
M
Michael D. Fox
H 指数:11论文数:28被引数:414
A
Adam D. Heaps
H 指数:7论文数:7被引数:419