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. 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 LYSET facilitates integration of both the Nand C-terminal transmembrane helices/cytoplasmic domains ..
4. 陈子江 中国 山东大学 中国科学院院士 Targeted long-read sequencing enables higher diagnostic yield of ADPKD by accurate PKD1 genetic anal..
5. 王晓斌 美国 Johns Hopkins University 2018美国医学院院士 Cord plasma metabolomic signatures of prenatal per- and polyfluoroalkyl substance (PFAS) exposures i..
6. 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
7. 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
8. 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
9. 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
10. 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..
11. 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
12. 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..
13. 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 ..
14. 王晓斌 美国 Johns Hopkins University 2018美国医学院院士 Allelic dropout in PAH affecting the results of genetic diagnosis in phenylketonuria
15. 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, ..
16. 王晓斌 美国 Johns Hopkins University 2018美国医学院院士 Clinical application of NGS-based SNP haplotyping for PGT-M of methylmalonic acidemia
17. 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
18. 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..
19. 王晓斌 美国 Johns Hopkins University 2018美国医学院院士 Development of a mutation hotspot detection kit for the phenylalanine hydroxylase gene by ARMS-PCR c..
20. 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..