1. Evan E. Eichler 美国 University of Washington 2012美国科学院院士;2017美国医学院院士 Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorde..
2. Siegelbaum, Steven A. 美国 Columbia University 2012美国医学院院士 Seizures, behavioral deficits, and adverse drug responses in two new genetic mouse models of HCN1 ep..
3. Gleeson, Joseph G. 美国 University of California, San Diego 2013美国医学院院士 Sperm mosaicism: implications for genomic diversity and disease
4. Lupski, James R. 美国 Baylor College of Medicine 2002美国医学院院士 Phenotypic expansion inKIF1A-related dominant disorders: A description of novel variants and review ..
5. Gibbs, Richard A. 美国 Baylor College of Medicine 2011美国医学院院士 Phenotypic expansion inKIF1A-related dominant disorders: A description of novel variants and review ..
6. Chung, Wendy K. 美国 Columbia University 2020美国医学院院士 Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A[KIF1A]
7. Pat,Levitt 美国 University of Southern California 2013美国医学院院士 Transcriptome data of temporal and cingulate cortex in the Rett syndrome brain
8. Berge A,Minassian 美国 University of Texas Southwestern Medical Center KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature
9. Debomoy K,Lahiri 美国 Indiana University Neurodevelopmental disorders and microcephaly: how apoptosis, the cell cycle, tau and amyloid-β pre..
10. Ausio, Juan 加拿大 University of VICTORIA MeCP2 ubiquitination and sumoylation, in search of a function
11. Ruggieri, Martino 意大利 University of Catania SCN8A and Its Related Epileptic Phenotypes
12. Ingrid E,Scheffer 澳大利亚 University of Melbourne Cation leak: a common functional defect causing HCN1 developmental and epileptic encephalopathy
13. 魏丽萍 中国 北京大学 教授 MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study..
14. Holger,Lerche 德国 University of Tubingen In vitro effects of eslicarbazepine (S-licarbazepine) as a potential precision therapy on ..
15. Wilkie, Andrew O.M. 英国 University of Oxford Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mut..
16. Erez Lieberman,Aiden 美国 Baylor College of Medicine Transcriptional and functional consequences of alterations to MEF2C and its topological organization..
17. James F,Gusella 美国 Harvard University Transcriptional and functional consequences of alterations to MEF2C and its topological organization..
18. Michael E,Talkowski 美国 Harvard University Transcriptional and functional consequences of alterations to MEF2C and its topological organization..
19. Rho, Jong M. 加拿大 Hotchkiss Brain Institute Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implica..
20. Pasquale,Striano 意大利 University of Genoa Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implica..