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J

Jerry Vockley

university of pittsburgh schools of medicine and public health
H指数:78
被引数:1.8万

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荣誉奖项

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Long-Chain Fatty Acid Oxidation Disorder Genes: A Comprehensive Genetic Database of LC-FAOD Variants, Genotypes, and Phenotypes

长链脂肪酸氧化障碍基因：LC-FAOD变异体、基因型和表型的综合性遗传数据库

Human Mutation
IF3.7
2026-07-070
OAAI
Heather Richbourg; Vanessa Rangel Miller; Omid Khazaie Japalaghi; Moeenaldeen AlSayed; Peter R. Baker; Sean Daugherty; Tali Ekstein; Sarah C. Grünert; Mark J. Kiel; Aneal Khan; Hironori Kobayashi; Lawrence Korngut; Stephanie A. Monteleone; Ida Vanessa D. Schwartz; Nicole Miller; Jerry Vockley
Practical Considerations for the Diagnosis and Management of Isovaleryl-CoA-Dehydrogenase Deficiency (Isovaleric Acidemia): Systematic Search and Review and Expert Opinions

异戊酰辅酶A脱氢酶缺乏症（异戊酸血症）的诊断与管理：实用考量、系统检索与综述及专家意见

International Journal of Neonatal Screening
IF4
2026-03-030
OAAI
Eva Thimm; Anselma Riederer; Jerry Vockley; Dries Dobbelaere; Monique Williams; Anita MacDonald; Katharina Dokoupil; Ulrich A. Schatz; Regina Ensenauer
Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

苯丙氨酸羟化酶缺乏症的诊断与管理：美国医学遗传学与基因组学学院（ACMG）2023年循证临床指南

Genetics in Medicine
IF6.2
2026-01-060
OA
Wendy E. Smith; Susan A. Berry; Kaitlyn Bloom; Christine Brown; Barbara K. Burton; Olivia M. Demarest; Gabrielle P. Jenkins; Jennifer Malinowski; Kim L. McBride; H. Joel Mroczkowski; Curt Scharfe; Jerry Vockley

研究方向

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A
Al‐Walid Mohsen
H 指数:27论文数:98被引数:2,569
B
Barbara K. Burton
H 指数:64论文数:612被引数:1.3万
E
Eric S. Goetzman
H 指数:31论文数:143被引数:6,575
A
Anuradha Karunanidhi
H 指数:13论文数:52被引数:566
N
Nicola Longo
H 指数:55论文数:711被引数:1.1万
D
Dietrich Matern
H 指数:59论文数:275被引数:1.0万
S
Steven F. Dobrowolski
H 指数:30论文数:94被引数:3,876
C
Cary O. Harding
H 指数:43论文数:196被引数:5,917
S
Susan A. Berry
H 指数:53论文数:311被引数:1.0万
L
Lina Ghaloul‐Gonzalez
H 指数:15论文数:51被引数:888