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James R. Lupski | Researchclopedia

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James R. Lupski

Baylor College of Medicine ORCID

1,083

Works

87,369

Citations

144

h-index

750

i10-index

Research Topics

Genomic variations and chromosomal abnormalities Genomics and Rare Diseases Hereditary Neurological Disorders

Affiliations

Kagoshima University2004–2004

Human Genome Sciences (United States)2019–2019

Jiangnan University2018–2018

Northwestern University1998–1998

Tulane University1999–1999

Top Works

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Yaping Yang,Donna M. Muzny,et al.

20131,960 citations

Genetics and Neurodevelopmental Disorders

Chromosomal and Genetic Variations

The complete genome of an individual by massively parallel DNA sequencing

David A. Wheeler,Maithreyan Srinivasan,et al.

20081,834 citations

Genomic fingerprinting of bacteria using repetitive sequence-based polymerase chain reaction

James Versalovic,Michel Schneider,et al.

19941,654 citations

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy

Rando Allikmets,Nanda Singh,et al.

19971,428 citations

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Yaping Yang,Donna M. Muzny,et al.

20141,387 citations

Mechanisms of change in gene copy number

P. J. Hastings,James R. Lupski,et al.

20091,327 citations

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

James R. Lupski,Roberto Montes‐de‐Oca‐Luna,et al.

19911,320 citations

Copy Number Variation in Human Health, Disease, and Evolution

Feng Zhang,Wenli Gu,et al.

20091,235 citations

Structural Variation in the Human Genome and its Role in Disease

Paweł Stankiewicz,James R. Lupski

20101,215 citations