1. Mary-Claire,King 美国 University of Washington 1994美国医学院院士;2005美国科学院院士;2014拉斯克奖 Genetic Heterogeneity and Core Clinical Features of NOG-Related-Symphalangism Spectrum Disord..
2. Mary-Claire,King 美国 University of Washington 1994美国医学院院士;2005美国科学院院士;2014拉斯克奖 Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel h..
3. Mary-Claire,King 美国 University of Washington 1994美国医学院院士;2005美国科学院院士;2014拉斯克奖 Genomic Duplication and Overexpression of TJP2/ZO-2 Leads to Altered Expression of Apoptosis Genes i..
4. Petit, Christine 法国 Institut Pasteur 2011美国医学院院士；2016美国科学院院士 Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associate..
5. 邓子新 中国 上海交通大学 讲席教授 中国科学院院士 Glycodiversification of gentamicins through in vivo glycosyltransferase swapping enabled the creatio..
6. Petit, Christine 法国 Institut Pasteur 2011美国医学院院士；2016美国科学院院士 Splice-altering variant of PJVK gene in a Mauritanian family with non-syndromic hearing impai..
7. 韩德民 中国 首都医科大学 中国工程院院士 Genetic screening of newborns for deafness over 11 years in Beijing, China: More infants could benef..
8. Arturo Casadevall 美国 Johns Hopkins University 2022美国科学院院士;2014美国医学院院士 Top five unanswered questions in fungal cell surface research
9. Smith, Richard J. H. 美国 University of Iowa 2006美国医学院院士 Single-cell RNA-sequencing of stria vascularis cells in the adult Slc26a4-/- mouse
10. Smith, Richard J. H. 美国 University of Iowa 2006美国医学院院士 Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafne..
11. Lupski, James R. 美国 Baylor College of Medicine 2002美国医学院院士 SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated wit..
12. Smith, Richard J. H. 美国 University of Iowa 2006美国医学院院士 De novo variants are a common cause of genetic hearing loss
13. Gantz, Bruce J. 美国 The University of Iowa 2000美国医学院院士 Genetic Causes of Hearing Loss in a Large Cohort of Cochlear Implant Recipients
14. Smith, Richard J. H. 美国 University of Iowa 2006美国医学院院士 Genetic Causes of Hearing Loss in a Large Cohort of Cochlear Implant Recipients
15. Smith, Richard J. H. 美国 University of Iowa 2006美国医学院院士 AudioGene: refining the natural history of KCNQ4, GSDME, WFS1, and COCH-associated hearing loss
16. Gleeson, Joseph G. 美国 University of California, San Diego 2013美国医学院院士 Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss..
17. 王恩多 中国 中国科学院 中国科学院院士 Distinct pathogenic mechanisms of various RARS1 mutations in Pelizaeus-Merzbacher-like diseas..
18. Berkovic, Samuel F. 澳大利亚 University of Melbourne 2017美国医学院院士 Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individ..
19. Lowenstein, Daniel H. 美国 University of California, San Francisco 2017美国医学院院士 Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individ..
20. Smith, Richard J. H. 美国 University of Iowa 2006美国医学院院士 A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal r..