1. Christopher A. Walsh 美国 Harvard University 2018美国科学院院士;2013美国医学院院士 BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 pati..
2. Gleeson, Joseph G. 美国 University of California, San Diego 2013美国医学院院士 BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 pati..
3. 高天明 中国 南方医科大学 2021中国工程院院士 Increased NMDARs in neurons and glutamine synthetase in astrocytes underlying autistic-like behavior..
4. Gleeson, Joseph G. 美国 University of California, San Diego 2013美国医学院院士 Control-independent mosaic single nucleotide variant detection with DeepMosaic
5. Celso,Arango 西班牙 University of COMPLUTENSE 2023美国医学院院士 Analysis of common genetic variation across targets of microRNAs dysregulated both in ASD and epilep..
6. 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
7. 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
8. 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..
9. Gahl, William A. 美国 National Human Genome Research Institute 2018美国医学院院士 Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosy..
10. 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 ..
11. Gleeson, Joseph G. 美国 University of California, San Diego 2013美国医学院院士 Clinico-radiological features, molecular spectrum, and identification of prognostic factors in devel..
12. 吴云东 中国 北京大学 中国科学院院士 Incorporating structural features to improve the prediction and understanding of pathogenic amino ac..
13. McNamara, James O. 美国 Duke University Medical Center 2005美国医学院院士 Cnksr2 Loss in Mice Leads to Increased Neural Activity and Behavioral Phenotypes of Epilepsy-Aphasia..
14. 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
15. 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
16. 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 ..
17. 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
18. 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
19. 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
20. Christopher A. Walsh 美国 Harvard University 2018美国科学院院士;2013美国医学院院士 MIPP-Seq: ultra-sensitive rapid detection and validation of low-frequency mosaic mutations