1. Lupski, James R. 美国 Baylor College of Medicine 2002美国医学院院士 HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from ..
2. Lupski, James R. 美国 Baylor College of Medicine 2002美国医学院院士 Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnos..
3. 王恩多 中国 中国科学院 中国科学院院士 Multifaceted roles of t6A biogenesis in efficiency and fidelity of mitochondrial gene exp..
4. 王恩多 中国 中国科学院 中国科学院院士 Mitochondrial RNA m3C methyltransferase METTL8 relies on an isoform-specific N-terminal extension an..
5. Taylor, Hugh S. 美国 Yale School of Medicine 2016美国医学院院士 Estimation on risk of spontaneous abortions by genomic disorders from a meta-analysis of microarray ..
6. Robert M. Nowak 美国 Michigan Molecular Institute 1992美国工程院院士 CNVind: an open source cloud-based pipeline for rare CNVs detection in whole exome sequencing data b..
7. Berkovic, Samuel F. 澳大利亚 University of Melbourne 2017美国医学院院士 Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome
8. 金力 中国 复旦大学上海医学院 中国科学院院士 Temporal transcriptomic landscape of postnatal mouse ovaries reveals dynamic gene signatures associa..
9. Gibbs, Richard A. 美国 Baylor College of Medicine 2011美国医学院院士 CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels
10. Arthur L. Beaudet 美国 Luna Genetics, Inc. 2011美国科学院院士;1995美国医学院院士 CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels
11. Lupski, James R. 美国 Baylor College of Medicine 2002美国医学院院士 CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels
12. Kastner, Daniel L. 美国 National Institutes of Health 2012美国医学院院士；2010美国科学院院士 Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheri..
13. Mardis, Elaine R. 美国 Ohio State University College of Medicine and Public Health 2019美国医学院院士 Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care..
14. Gelb, Bruce D. 美国 Mount Sinai School of Medicine 2010美国医学院院士 Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment
15. Evan E. Eichler 美国 University of Washington 2012美国科学院院士;2017美国医学院院士 The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndr..
16. Robert M. Nowak 美国 Michigan Molecular Institute 1992美国工程院院士 Comparison of kNN and k-means optimization methods of reference set selection for improved CNV calle..
17. Leibel, Rudolph L. 美国 Columbia University College of Physicians and Surgeons 1998美国医学院院士 FTO mediates cell-autonomous effects on adipogenesis and adipocyte lipid content by regulating gene ..
18. 乔杰 中国 北京大学 中国工程院院士 Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patie..
19. Gunel, Murat 美国 Yale School of Medicine 2015美国医学院院士 A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP
20. Leibel, Rudolph L. 美国 Columbia University College of Physicians and Surgeons 1998美国医学院院士 Hypomorphism of Fto and Rpgrip1l causes obesity in mice