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. 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
3. Mustafa,Sahin 美国 Harvard University 2023美国医学院院士 Autism spectrum disorder and epileptic encephalopathy: common causes, many questions
4. Ausio, Juan 加拿大 University of VICTORIA MeCP2 ubiquitination and sumoylation, in search of a function
5. 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..
6. 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..
7. Christodoulou, John 澳大利亚 University of Melbourne CDKL5 deficiency disorder: molecular insights and mechanisms of pathogenicity to fast-track therapeu..
8. Thierry,Bienvenu 法国 University of PARIS 05 Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretat..
9. Percy, Alan K. 美国 University of ALABAMA Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretat..
10. P. Jeffrey,Conn 美国 VANDERBILT University Profiling beneficial and potential adverse effects of MeCP2 overexpression in a hypomorphic Rett syn..
11. Niswender, Colleen M. 美国 VANDERBILT University Profiling beneficial and potential adverse effects of MeCP2 overexpression in a hypomorphic Rett syn..
12. Cabral, Joaquim M. S. 葡萄牙 University of Lisbon Modeling Rett Syndrome with Human Pluripotent Stem Cells: Mechanistic Outcomes and Future Clinical P..
13. Leonard, Helen 澳大利亚 University of Western Australia Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international d..
14. Eric H,Kossoff 美国 Johns Hopkins University Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the internation..
15. Ingrid E,Scheffer 澳大利亚 University of Melbourne Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the internation..
16. Darryl C,De Vivo 美国 Columbia University Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the internation..
17. Hirose, Shinichi 日本 Fukuoka University Clinical features of early myoclonic encephalopathy caused by a CDKL5 mutation
18. 魏丽萍 中国 北京大学 教授 Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort[vol 21, pg 1330, 201..
19. Monica J,Justice 加拿大 University of Toronto Treating Rett syndrome: from mouse models to human therapies
20. 魏丽萍 中国 北京大学 教授 Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort