1. James ,Rothman 美国 Yale University 1995美国医学院院士;1993美国科学院院士;2002拉斯克奖;2013诺贝尔生理学或医学奖 Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neu..
2. Roscoe O,Brady 美国 Harvard University 1975美国科学院院士 ;1982拉斯克奖 Induced Pluripotent Stem Cells for Disease Modeling and Evaluation of Therapeutics for Niemann-Pick ..
3. Chung, Wendy K. 美国 Columbia University 2020美国医学院院士 Universal newborn screening using genome sequencing: early experience from the GUARDIAN study
4. Leibel, Rudolph L. 美国 Columbia University College of Physicians and Surgeons 1998美国医学院院士 Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions
5. Orange, Jordan S. 美国 Columbia University College of Physicians and Surgeons 2018美国医学院院士 Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions
6. Chung, Wendy K. 美国 Columbia University 2020美国医学院院士 Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions
7. DeBerardinis, Ralph J. 美国 The University of Texas Southwestern Medical Center 2020美国医学院院士 Evaluation of the clinical, biochemical, and molecular spectrum of Cobalamin C (CblC) defect in 33 p..
8. Stallings, Virginia A. 美国 Children's Hospital of Philadelphia 2005美国医学院院士 Environmental Phenols and Growth in Infancy: The Infant Feeding and Early Development Study
9. 陈香美 中国 解放军总医院 中国工程院院士 The evolution of the initial manifestations and renal involvement of chinese patients with classical..
10. Stuart A. Kornfeld 美国 Washington University in St. Louis 1982美国科学院院士;1984美国医学院院士 Structure of the human GlcNAc-1-phosphotransferase alpha beta subunits reveals regulatory mechanism ..
11. Mathias Uhlen 美国 Royal Institute of Technology 2013美国工程院院士 Longitudinal Serum Metabolomics in Extremely Premature Infants: Relationships With Gestational Age, ..
12. Krainc, Dimitri 美国 Northwestern University Feinberg School of Medicine 2022美国医学院院士 Evaluation of Strategies for Measuring Lysosomal Glucocerebrosidase Activity
13. 金力 中国 复旦大学 教授 中国科学院院士 Temporal transcriptomic landscape of postnatal mouse ovaries reveals dynamic gene signatures associa..
14. 宁光 中国 上海交通大学医学院 中国工程院院士 Clinical and molecular characterization of thirty Chinese patients with congenital lipoid adrenal hy..
15. Stuart A. Kornfeld 美国 Washington University in St. Louis 1982美国科学院院士;1984美国医学院院士 Disease-causing missense mutations within the N-terminal transmembrane domain of GlcNAc-1-phosphotra..
16. 邱贵兴 中国 中国医学科学院 中国工程院院士 CCN6 mutation detection in Chinese patients with progressive pseudo-rheumatoid dysplasia and identif..
17. Krainc, Dimitri 美国 Northwestern University Feinberg School of Medicine 2022美国医学院院士 Emerging links between pediatric lysosomal storage diseases and adult parkinsonism
18. Gleeson, Joseph G. 美国 University of California, San Diego 2013美国医学院院士 Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine nove..
19. 杨焕明 中国 中国科学院 中国科学院院士;2014美国科学院院士 Molecular genetics of tetrahydrobiopterin deficiency in Chinese patients
20. David M. Sabatini 美国 Massachusetts Institute of Technology 2016美国科学院院士 Identification of a transporter complex responsible for the cytosolic entry of nitrogen-containing b..