1. Gelb, Bruce D. 美国 Mount Sinai School of Medicine 2010美国医学院院士 Detection of mosaic variants using genome sequencing in a large pediatric cohort
2. Gleeson, Joseph G. 美国 University of California, San Diego 2013美国医学院院士 Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development
3. 黄荷凤 中国 浙江大学 中国科学院院士 Parental mosaicism detection and preimplantation genetic testing in families with multiple transmiss..
4. 黄荷凤 中国 浙江大学 中国科学院院士 Living birth following preimplantation genetic testing for monogenic disorders to prevent low-level ..
5. 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
6. Gleeson, Joseph G. 美国 University of California, San Diego 2013美国医学院院士 Developmental and temporal characteristics of clonal sperm mosaicism
7. 黄荷凤 中国 浙江大学 中国科学院院士 Low-level germline mosaicism of a novel SMARCA2 missense variant: Expanding the phenotypic spectrum ..
8. Gleeson, Joseph G. 美国 University of California, San Diego 2013美国医学院院士 Comprehensive identification of somatic nucleotide variants in human brain tissue
9. Christopher A. Walsh 美国 Harvard University 2018美国科学院院士;2013美国医学院院士 Comprehensive identification of somatic nucleotide variants in human brain tissue
10. Weinberger, Daniel R. 美国 Lieber Institute for Brain Development 1999美国医学院院士 Comprehensive identification of somatic nucleotide variants in human brain tissue
11. Lupski, James R. 美国 Baylor College of Medicine 2002美国医学院院士 Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection metho..
12. Biesecker, Leslie G. 美国 National Human Genome Research Institute 2016美国医学院院士 A six-attribute classification of genetic mosaicism
13. Lupski, James R. 美国 Baylor College of Medicine 2002美国医学院院士 Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected..
14. Christopher A. Walsh 美国 Harvard University 2018美国科学院院士;2013美国医学院院士 Accurate detection of mosaic variants in sequencing data without matched controls
15. Gleeson, Joseph G. 美国 University of California, San Diego 2013美国医学院院士 Autism risk in offspring can be assessed through quantification of male sperm mosaicism
16. Gleeson, Joseph G. 美国 University of California, San Diego 2013美国医学院院士 Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy
17. Christopher A. Walsh 美国 Harvard University 2018美国科学院院士;2013美国医学院院士 Somatic mosaicism and neurodevelopmental disease
18. Berkovic, Samuel F. 澳大利亚 University of Melbourne 2017美国医学院院士 Genetic literacy series: genetic epilepsy with febrile seizures plus
19. Berkovic, Samuel F. 澳大利亚 University of Melbourne 2017美国医学院院士 Parental Mosaicism in "De Novo" Epileptic Encephalopathies
20. Bianchi, Diana W. 美国 National Institutes of Health 2013美国医学院院士 Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations