1. Pierre,Chambon 法国 Universite de Strasbourg 1985美国科学院院士;2004拉斯克奖 Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis..
2. Jean-Laurent Casanova 美国 The Rockefeller University 2015美国科学院院士;2015美国医学院院士 IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB-Ind..
3. 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..
4. 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
5. Mustafa,Sahin 美国 Harvard University 2023美国医学院院士 Autism spectrum disorder and epileptic encephalopathy: common causes, many questions
6. Ausio, Juan 加拿大 University of VICTORIA MeCP2 ubiquitination and sumoylation, in search of a function
7. 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..
8. 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..
9. Puel, Anne 法国 Hôpital Necker Enfants Malades IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB-Ind..
10. Thierry,Bienvenu 法国 University of PARIS 05 Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretat..
11. Percy, Alan K. 美国 University of ALABAMA Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretat..
12. Christodoulou, John 澳大利亚 University of Melbourne CDKL5 deficiency disorder: molecular insights and mechanisms of pathogenicity to fast-track therapeu..
13. Leonard, Helen 澳大利亚 University of Western Australia A brief history of MECP2 duplication syndrome: 20-years of clinical understanding
14. P. Jeffrey,Conn 美国 VANDERBILT University Profiling beneficial and potential adverse effects of MeCP2 overexpression in a hypomorphic Rett syn..
15. Niswender, Colleen M. 美国 VANDERBILT University Profiling beneficial and potential adverse effects of MeCP2 overexpression in a hypomorphic Rett syn..
16. Cabral, Joaquim M. S. 葡萄牙 University of Lisbon Modeling Rett Syndrome with Human Pluripotent Stem Cells: Mechanistic Outcomes and Future Clinical P..
17. Leonard, Helen 澳大利亚 University of Western Australia Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international d..
18. Hirose, Shinichi 日本 Fukuoka University Clinical features of early myoclonic encephalopathy caused by a CDKL5 mutation
19. 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..
20. Monica J,Justice 加拿大 University of Toronto Treating Rett syndrome: from mouse models to human therapies