James R. Lupski
Baylor College of Medicine(US)Texas Scottish Rite Hospital for Children(US)Southwestern Medical Center(US)Texas Children's Hospital(US)Baylor Genetics(US)The University of Texas Southwestern Medical Center(US)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Hereditary Neurological Disorders, Genetics and Neurodevelopmental Disorders, Chromosomal and Genetic Variations
Most-Cited Works
- → Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders(2013)1,960 cited
- → The complete genome of an individual by massively parallel DNA sequencing(2008)1,833 cited
- Genomic fingerprinting of bacteria using repetitive sequence-based polymerase chain reaction(1994)
- → A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy(1997)1,428 cited
- → Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing(2014)1,387 cited
- → Mechanisms of change in gene copy number(2009)1,327 cited
- → DNA duplication associated with Charcot-Marie-Tooth disease type 1A(1991)1,320 cited