1. William E. Moerner 美国 STANFORD University 2008沃尔夫化学奖;2014诺贝尔化学奖 Cby1 promotes Ahi1 recruitment to a ring-shaped domain at the centriole-cilium interface and facilit..
2. Hegemann, Peter 德国 Humboldt-Universität zu Berlin 2021拉斯克奖;2022美国科学院院士 Deciphering the role of cytoplasmic domain of Channelrhodopsin in modulation of the interactome and ..
3. Douglas R,Lowy 美国 National Cancer Institute 2003美国医学院院士;2009美国科学院院士;2017拉斯克奖 Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment
4. Wing Hung Wong 美国 Stanford University 2009美国科学院院士 Genetic effects of sequence-conserved enhancer-like elements on human complex traits
5. Hildebrandt, Friedhelm 美国 Harvard Medical School 2015美国医学院院士 Nephronophthisis: a pathological and genetic perspective
6. Berkovic, Samuel F. 澳大利亚 University of Melbourne 2017美国医学院院士 Brain mosaicism of hedgehog signalling and other cilia genes in hypothalamic hamartoma
7. 陈晔光 中国 清华大学 中国科学院院士 ARL13B promotes angiogenesis and glioma growth by activating VEGFA-VEGFR2 signaling
8. Andrew P. McMahon 美国 University of Southern California 2020美国科学院院士 A scalable organoid model of human autosomal dominant polycystic kidney disease for disease mechanis..
9. Sheffield, Val C. 美国 The University of Iowa 2005美国医学院院士 Retinal ciliopathies through the lens of Bardet-Biedl Syndrome: Past, present and future
10. 杨正林 中国 四川省人民医院 2021中国科学院院士 Characterization of two novel knock-in mouse models of syndromic retinal ciliopathy carrying hypomor..
11. Hildebrandt, Friedhelm 美国 Harvard Medical School 2015美国医学院院士 A Novel Form of Familial Vasopressin Deficient Diabetes Insipidus Transmitted in an X-linked Recessi..
12. Hildebrandt, Friedhelm 美国 Harvard Medical School 2015美国医学院院士 Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney ..
13. Sheffield, Val C. 美国 The University of Iowa 2005美国医学院院士 Gene therapy rescues olfactory perception in a clinically relevant ciliopathy model of Bardet-Biedl ..
14. Randall T. Moon 美国 University of Washington 2015美国科学院院士 Loss of the ciliary protein Chibby1 in mice leads to exocrine pancreatic degeneration and pancreatit..
15. Michael L. Dustin 英国 University of Oxford 2021美国科学院院士 The Bardet-Biedl syndrome complex component BBS1 controls T cell polarity during immune synapse asse..
16. Kari Stefansson 冰岛 deCODE genetics 2019美国科学院院士 The genetic architecture of age-related hearing impairment revealed by genome-wide association analy..
17. Gleeson, Joseph G. 美国 University of California, San Diego 2013美国医学院院士 Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
18. Richard P. Lifton 美国 The Rockefeller University 2001美国科学院院士;2002美国医学院院士 Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome
19. Hildebrandt, Friedhelm 美国 Harvard Medical School 2015美国医学院院士 Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome
20. Richard P. Lifton 美国 The Rockefeller University 2001美国科学院院士;2002美国医学院院士 Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice