1. 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 ..
2. 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
3. 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
4. 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
5. 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 ..
6. 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..
7. 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..
8. Pfeffer, Suzanne R. 美国 Stanford University 2024美国科学院院士 Pathogenic LRRK2 regulates ciliation probability upstream of tau tubulin kinase 2 via Rab10 and RILP..
9. Sheffield, Val C. 美国 The University of Iowa 2005美国医学院院士 Photoreceptor cilia, in contrast to primary cilia, grant entry to a partially assembled BBSome
10. Hildebrandt, Friedhelm 美国 Harvard Medical School 2015美国医学院院士 Roscovitine blocks collecting duct cyst growth in Cep164-deficient kidneys
11. Sheffield, Val C. 美国 The University of Iowa 2005美国医学院院士 BBS4 is required for intraflagellar transport coordination and basal body number in mammalian olfact..
12. Gahl, William A. 美国 National Human Genome Research Institute 2018美国医学院院士 Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in ..
13. Hildebrandt, Friedhelm 美国 Harvard Medical School 2015美国医学院院士 The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for..
14. Gahl, William A. 美国 National Human Genome Research Institute 2018美国医学院院士 Defective ciliogenesis in INPP5E-related Joubert syndrome
15. 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 FBN3 gene involved in pathogenesis of a Chinese family with Bardet-Biedl syndrome
16. Sheffield, Val C. 美国 The University of Iowa 2005美国医学院院士 Gene Therapeutic Reversal of Peripheral Olfactory Impairment in Bardet-Biedl Syndrome
17. Gahl, William A. 美国 National Human Genome Research Institute 2018美国医学院院士 Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency
18. Hildebrandt, Friedhelm 美国 Harvard Medical School 2015美国医学院院士 Ciliopathies
19. Harper, J. Wade 美国 Harvard Medical School 2023美国科学院院士 Systematic proteomics of the VCP-UBXD adaptor network identifies a role for UBXN10 in regulating cil..
20. Hildebrandt, Friedhelm 美国 Harvard Medical School 2015美国医学院院士 Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization