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..
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 ..
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 ..
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[KIF..
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. Elaine C,Wirrell 美国 Mayo Clinic - Rochester Global modified Delphi consensus on diagnosis, phenotypes, and treatment of SCN8A-related epi..
9. Ingrid E,Scheffer 澳大利亚 University of Melbourne SCN8A self-limited infantile epilepsy: Does epilepsy resolve?
10. Jagodzinski, Pawel P. 波兰 POZNAN UNIVERSITY OF MEDICAL SCIENCES A Review of the CACNA Gene Family: Its Role in Neurological Disorders
11. Chang,Lu 美国 Virginia Tech Epigenomic tomography for probing spatially defined chromatin state in the brain
12. John T,Wei 美国 University of Michigan Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cereb..
13. Meghan B,Azad 加拿大 University of Manitoba Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cereb..
14. Stuart E,Turvey 加拿大 University of British Columbia Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cereb..
15. Michael I,Shevell 加拿大 McGill University Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cereb..
16. Jacques L,Michaud 加拿大 University of MONTREAL Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cereb..
17. Stephen W,Scherer 加拿大 University of Toronto Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cereb..
18. Berge A,Minassian 美国 University of Texas Southwestern Medical Center KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature
19. Ausio, Juan 加拿大 University of VICTORIA MeCP2 ubiquitination and sumoylation, in search of a function
20. Debomoy K,Lahiri 美国 Indiana University Neurodevelopmental disorders and microcephaly: how apoptosis, the cell cycle, tau and amyloid-β pre..