1. Gleeson, Joseph G. 美国 University of California, San Diego 2013美国医学院院士 The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian child..
2. Mardis, Elaine R. 美国 Ohio State University College of Medicine and Public Health 2019美国医学院院士 Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy
3. 王晓斌 美国 Johns Hopkins University 2018美国医学院院士 Association between atopic diseases and neurodevelopmental disabilities in a longitudinal birth coho..
4. Gibbs, Richard A. 美国 Baylor College of Medicine 2011美国医学院院士 Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome
5. Lupski, James R. 美国 Baylor College of Medicine 2002美国医学院院士 Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome
6. Hildebrandt, Friedhelm 美国 Harvard Medical School 2015美国医学院院士 Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype
7. John Rubenstein 美国 University of California-San Francisco 2020美国科学院院士;2006美国医学院院士 Astroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the ..
8. Gleeson, Joseph G. 美国 University of California, San Diego 2013美国医学院院士 Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations..
9. Buxbaum, Joseph D. 美国 Icahn School of Medicine at Mount Sinai 2015美国医学院院士 Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment ..
10. Rajkovic, Aleksandar 美国 University of California, San Francisco 2020美国医学院院士 Genomic Markers of Ovarian Reserve
11. Buxbaum, Joseph D. 美国 Icahn School of Medicine at Mount Sinai 2015美国医学院院士 Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome a..
12. Sheffield, Val C. 美国 The University of Iowa 2005美国医学院院士 2q24 deletions: Further characterization of clinical findings and their relation to the SCN cluster
13. Romero, Roberto 美国 National Institute of Child Health and Human Development 2007美国医学院院士 Viral invasion of the amniotic cavity (VIAC) in the midtrimester of pregnancy
14. Arthur L. Beaudet 美国 Luna Genetics, Inc. 2011美国科学院院士;1995美国医学院院士 Detection of Clinically Relevant Exonic Copy-Number Changes by Array CGH
15. Lupski, James R. 美国 Baylor College of Medicine 2002美国医学院院士 Detection of Clinically Relevant Exonic Copy-Number Changes by Array CGH
16. 陈持平 中国 台湾马偕纪念医院 Rapid diagnosis of maternal origin of de novo fetal Robertsonian translocation down sy..
17. 陈持平 中国 台湾马偕纪念医院 Craniorachischisis in a stillbirth associated with maternal smoking
18. 陈持平 中国 台湾马偕纪念医院 Syndromic and single gene disorders associated with fetal megacystis (I): Megacystis-microcolon-inte..
19. 陈持平 中国 台湾马偕纪念医院 Chromosomal abnormalities associated with fetal megacystis
20. James E,Goldman 美国 Columbia University Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy