JamesLupskiMD
Pediatrics • Houston, TXProfessor, Molecular & Human Genetics, Baylor College of Medicine
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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
- The Golgi complex governs natural killer cell lytic granule positioning to promote directionality in cytotoxicity.Luis A Pedroza, Frederique van den Haak, Alexander Frumovitz, Evelyn Hernandez, Everardo Hegewisch-Solloa
Cell Reports. 2025-01-13 - DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.Ivana Lessel, Anja Baresic, Ivan K Chinn, Jonathan May, Anu Goenka
American Journal of Human Genetics. 2025-01-03 - Monoallelic expression can govern penetrance of inborn errors of immunity.O'Jay Stewart, Conor Gruber, Haley E Randolph, Roosheel Patel, Meredith Ramba
Nature. 2025-01-01
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
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Professional Memberships
- Fellow
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