D-Index & Metrics Best Publications

James R. Lupski

Baylor College of Medicine
United States

Genetics

USA

2023

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

Discipline name Citations Publications World Ranking National Ranking

Medicine D-index 150 Citations 89,445 867 World Ranking 616 National Ranking 363

Genetics D-index 150 Citations 88,873 848 World Ranking 81 National Ranking 44

Research.com Recognitions

Awards & Achievements

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)

Overview

What are the main themes of his work throughout his whole career to date

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.

James R. Lupski most often published in these fields:

Genetics (85.71%)
Gene (85.71%)
Mutation (42.86%)

This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.

Best Publications

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)

4200 Citations

The complete genome of an individual by massively parallel DNA sequencing

David A. Wheeler;Maithreyan Srinivasan;Michael Egholm;Yufeng Shen.
Nature (2008)

2296 Citations

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)

2271 Citations

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)

1943 Citations

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)

1587 Citations

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

James R. Lupski;Roberto Montes de Oca-Luna;Susan Slaugenhaupt;Liu Pentao.
Cell (1991)

1465 Citations

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)

1345 Citations

Structural Variation in the Human Genome and its Role in Disease

Paweł Stankiewicz;James R. Lupski.
Annual Review of Medicine (2010)

1332 Citations

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Yaping Yang;Donna M. Muzny;Fan Xia;Zhiyv Niu.
JAMA (2014)

1274 Citations

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)

1237 Citations

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Citations by year

Frequent Co-Authors

External Links

Personal Website for James R. Lupski