2023 - Research.com Genetics in United States Leader Award
2022 - Research.com Best Scientist Award
2013 - Fellow of the American Academy of Arts and Sciences
2002 - Member of the National Academy of Medicine (NAM)
2002 - Curt Stern Award, American Society of Human Genetics
1998 - E. Mead Johnson Award, Society for Pediatric Research
1996 - Fellow of the American Association for the Advancement of Science (AAAS)
His study looks at the intersection of Supernumerary and topics like Anatomy with Osteogenesis imperfecta. His Osteogenesis imperfecta study frequently links to other fields, such as Anatomy. His Phenotype study is within the categories of Genetic heterogeneity and Haploinsufficiency. James R. Lupski combines Haploinsufficiency and Phenotype in his research. He is involved in relevant fields of research such as Fundus (uterus) and Retinitis pigmentosa in the field of Ophthalmology. He regularly links together related areas like Ophthalmology in his Fundus (uterus) studies. His study ties his expertise on Hypotonia together with the subject of Genetics. His research on Hypotonia often connects related areas such as Genetics. His Gene study frequently involves adjacent topics like Sex reversal.
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Distribution of repetitive DNA sequences in eubacteria and application to fingerprinting of bacterial genomes.
James Versalovic;Thearith Koeuth;James R. Lupski.
Nucleic Acids Research (1991)
The complete genome of an individual by massively parallel DNA sequencing
David A. Wheeler;Maithreyan Srinivasan;Michael Egholm;Yufeng Shen.
Genomic fingerprinting of bacteria using repetitive sequence-based polymerase chain reaction
James Versalovic;M. Schneider;F. J. De Bruijn;J. R. Lupski.
Methods in molecular and cellular biology (1994)
Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Yaping Yang;Donna M. Muzny;Jeffrey G. Reid;Matthew N. Bainbridge.
The New England Journal of Medicine (2013)
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
Rando Allikmets;Nanda Singh;Hui Sun;Noah F. Shroyer.
Nature Genetics (1997)
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
James R. Lupski;Roberto Montes de Oca-Luna;Susan Slaugenhaupt;Liu Pentao.
Mechanisms of change in gene copy number
P. J. Hastings;James R. Lupski;James R. Lupski;Susan M. Rosenberg;Grzegorz Ira.
Nature Reviews Genetics (2009)
Structural Variation in the Human Genome and its Role in Disease
Paweł Stankiewicz;James R. Lupski.
Annual Review of Medicine (2010)
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
Yaping Yang;Donna M. Muzny;Fan Xia;Zhiyv Niu.
Copy number variation in human health, disease, and evolution.
Feng Zhang;Wenli Gu;Matthew E. Hurles;James R. Lupski.
Annual Review of Genomics and Human Genetics (2009)
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