JamesLupskiMD
Pediatrics • Houston, TXProfessor, Molecular & Human Genetics, Baylor College of Medicine
Dr. Lupski is on Doximity
As a Doximity member you'll join over two million verified healthcare professionals in a private, secure network.
- Gain access to free telehealth tools, such as our “call shielding” and one-way patient texting.
- Connect with colleagues in the same hospital or clinic.
- Read the latest clinical news, personalized to your specialty.
Office
6701 Fannin St
Houston, TX 77030Phone+1 832-822-4280Fax+1 832-825-4294
Education & Training
Baylor College of Medicine (Houston)Residency, Pediatrics, 1986 - 1989
New York University School of MedicineClass of 1985
Certifications & Licensure
TX State Medical License 1989 - 2025
NY State Medical License 1989 - 1992
Awards, Honors, & Recognition
- Elected Member Institute of Medicine, 2002
- Elected Member The American Society for Clinical Investigation, 1998
- Fellow (FAAP) American Academy of Pediatrics
Publications & Presentations
PubMed
- 128 citationsCharcot-Marie-tooth disease: a new paradigm for the mechanism of inherited diseasePragna Patel, James R. Lupski
Trends in Genetics. 1994-04-01 - 270 citationsCharcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 GeneBenjamin B. Roa, C. A. Garcia, Ueli Suter, D. A. Kulpa, Carol Wise
The New England Journal of Medicine. 1993-07-08 - 309 citationsCharcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit.Liu Pentao, Carol Wise, A. Craig Chinault, Pragna Patel, James R. Lupski
Nature Genetics. 1992-12-01
Journal Articles
- Clinical Exome Sequencing Reveals Locus Heterogeneity and Phenotypic Variability of CohesinopathiesScott E Hickey, Leah Slattery, James R Lupski, Margaret P Adam, Olivia Wenger, Davut Pehlivan, Laura Martin, Farida Abid, Dorothy Grange, Jennifer E Posey, Alison A Be..., Nature
- A Comprehensive Clinical and Genetic Study in 127 Patients with ID in Kinshasa, DR CongoJames R Lupski, Jennifer Posey, American Journal of Medical Genetics Part A
Press Mentions
Large European Study Underlines Power of Genomic Sequencing to Diagnose DiseasesApril 12th, 2023- Clinical Pathology Selected AbstractsJanuary 24th, 2023
- From the President’s DeskJanuary 20th, 2023
- Join now to see all
Professional Memberships
- Fellow
Viewing the full profile is available to verified healthcare professionals only.
Find your profile and take control of your online presence:
