James R. Lupski - Concepedia

Author

James R. Lupski

Also Known As

Ali Shojaie, Andrew S. McCallion, Brendan Lee, Charles Lee, Christine M. Eng, D. Lorenzetti, Dan Doherty, Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Dubrova, Yuri, Eva Martinez

1.1K

Publications

86.8K

Citations

143

H-Index

352

Concepts

All Affiliations

Baylor College of Medicine Texas Children's Hospital Baylor Genetics The University of Texas Health Science Center at Houston Boston Children's Hospital

About

James R. Lupski is an author at Baylor College of Medicine specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	106	361	37.4K
2	Health Sciences	18	22	1.8K
3	Engineering	11	11	542
4	Arts	1	1	19
5	Education	1	1	191

James R. Lupski

633

Publications

66.4K

Citations

131

H-Index

Page 1

	Year	Citations
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders Yaping Yang, Donna M. Muzny, Jeffrey G. Reid, New England Journal of Medicine	2013	1.9K
The complete genome of an individual by massively parallel DNA sequencing David A. Wheeler, Maithreyan Srinivasan, Yufeng Shen, Nature	2008	1.8K
Genomic fingerprinting of bacteria using repetitive sequence-based polymerase chain reaction James Versalovic, Michel Schneider, Frans J. de Bruijn, BiologyDna SequencingGeneticsGenomic FingerprintingMicrobiology	1994	1.7K
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing Yaping Yang, Donna M. Muzny, Fan Xia, JAMA	2014	1.4K
DNA duplication associated with Charcot-Marie-Tooth disease type 1A James R. Lupski, Roberto Montes‐de‐Oca‐Luna, Susan Slaugenhaupt, Cell Mendelian DisorderGenetic DisorderGeneticsDna DuplicationPathology	1991	1.3K
A DNA Replication Mechanism for Generating Nonrecurrent Rearrangements Associated with Genomic Disorders Jennifer A. Lee, Claudia M.B. Carvalho, James R. Lupski Cell Genome InstabilityNonrecurrent RearrangementsGenomic DisordersGeneticsNatural Sciences	2007	902
Mutation of the Stargardt Disease Gene ( <i>ABCR</i> ) in Age-Related Macular Degeneration Rando Allikmets, Noah F. Shroyer, Nanda Singh, Science	1997	873
Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy James R. Lupski, Jeffrey G. Reid, Claudia Gonzaga‐Jauregui, New England Journal of Medicine	2010	761
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation Jennifer E. Posey, Tamar Harel, Pengfei Liu, New England Journal of Medicine	2016	752
Mechanisms for human genomic rearrangements Wenli Gu, Feng Zhang, James R. Lupski PathoGenetics	2008	718

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