JamesLupskiMD

Pediatrics • Houston, TX

Professor, Molecular & Human Genetics, Baylor College of Medicine

Join to view full profile

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.

See Dr. Lupski's full profile

Already have an account?

Office
6701 Fannin St
Houston, TX 77030
Phone+1 832-822-4280

Fax+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

Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.
Davut Pehlivan, Jesse D Bengtsson, Sameer S Bajikar, Christopher M Grochowski, Ming Yin Lun
Genome Medicine. 2024-12-18
Using multiplexed functional data to reduce variant classification inequities in underrepresented populations.
Moez Dawood, Shawn Fayer, Sriram Pendyala, Mason Post, Divya Kalra
Genome Medicine. 2024-12-03
Improving Automated Deep Phenotyping Through Large Language Models Using Retrieval Augmented Generation.
Brandon T Garcia, Lauren Westerfield, Priya Yelemali, Nikhita Gogate, E Andres Rivera-Munoz
Medrxiv. 2024-12-02

Journal Articles

Clinical Exome Sequencing Reveals Locus Heterogeneity and Phenotypic Variability of Cohesinopathies
Scott 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 Congo
James 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

American Academy of Pediatrics - AAP
Fellow