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. 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
3. 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 ..
4. 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..
5. 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..
6. 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
7. 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
8. 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..
9. 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 ..
10. 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..
11. 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
12. 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
13. 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
14. 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
15. Hildebrandt, Friedhelm 美国 Harvard Medical School 2015美国医学院院士 Ciliopathies
16. 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..
17. 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
18. Merchant, Juanita L. 美国 University of Arizona, College of Medicine 2008美国医学院院士 Inhibition of Hedgehog signaling in the gastrointestinal tract: Targeting the cancer microenvironmen..
19. Gleeson, Joseph G. 美国 University of California, San Diego 2013美国医学院院士 Primary cilia in neurodevelopmental disorders
20. Sheffield, Val C. 美国 The University of Iowa 2005美国医学院院士 BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome pheno..