1. Huda Y. Zoghbi 美国 Baylor College of Medicine 2004美国科学院院士;2000美国医学院院士 Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretat..
2. Mustafa,Sahin 美国 Harvard University 2023美国医学院院士 Autism spectrum disorder and epileptic encephalopathy: common causes, many questions
3. Sur, Mriganka 美国 Massachusetts Institute of Technology 2011美国医学院院士 Functional recovery with recombinant human IGF1 treatment in a mouse model of Rett Syndrome
4. Pericak-Vance, Margaret A. 美国 University of Miami 2003美国医学院院士 The Expanding Role of MBD Genes in Autism: Identification of a MECP2 Duplication and Novel Alteratio..
5. Gina G,Turrigiano 美国 Brandeis University 2013美国科学院院士 A Critical and Cell-Autonomous Role for MeCP2 in Synaptic Scaling Up
6. Arthur L. Beaudet 美国 Luna Genetics, Inc. 2011美国科学院院士;1995美国医学院院士 11p14.1 Microdeletions Associated With ADHD, Autism, Developmental Delay, and Obesity
7. Kipnis, Jonathan 美国 Washington University 2022美国医学院院士 Rett syndrome and other autism spectrum disorders-brain diseases of immune malfunction?
8. Percy, Alan K. 美国 University of ALABAMA Parental age effects and Rett syndrome
9. Christodoulou, John 澳大利亚 University of Melbourne Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience
10. 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..
11. Thierry,Bienvenu 法国 University of PARIS 05 Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretat..
12. Percy, Alan K. 美国 University of ALABAMA Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretat..
13. Christodoulou, John 澳大利亚 University of Melbourne CDKL5 deficiency disorder: molecular insights and mechanisms of pathogenicity to fast-track therapeu..
14. Richard H,Haas 美国 University of California San Diego Analysis of X-inactivation status in a Rett syndrome natural history study cohort
15. Percy, Alan K. 美国 University of ALABAMA Analysis of X-inactivation status in a Rett syndrome natural history study cohort
16. Leonard, Helen 澳大利亚 University of Western Australia Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international d..
17. Marc R,Del Bigio 加拿大 University of Manitoba The MeCP2E1/E2-BDNF-miR132Homeostasis Regulatory Network Is Region-Dependent in the Human Brain and ..
18. Hirose, Shinichi 日本 Fukuoka University Clinical features of early myoclonic encephalopathy caused by a CDKL5 mutation
19. Susanna,Esposito 意大利 University of Parma Rett Syndrome in Males: The Different Clinical Course in Two Brothers with the Same Microduplication..
20. 魏丽萍 中国 北京大学 教授 Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort