James R. Lupski
James R. Lupski (born February 22, 1957) is the Cullen Endowed Chair in Molecular Genetics and Professor in the Department of Pediatrics at Baylor College of Medicine. Lupski obtained his BA degree from New York University in 1979 and his PhD and MD degrees in 1984 and 1985, respectively, from the same institution. He later moved for his Residency in Pediatrics to Baylor College of Medicine, where he has stayed since. Lupski is affected by a genetic disease called Charcot-Marie-Tooth (CMT) and has studied the condition as part of his research. He has contributed to the discovery and definition of genomic disorders and several genetic diseases. Provided by Wikipedia
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Case Report: p40phox deficiency underlying pediatric-onset systemic lupus erythematosus by Alejandro Nieto-Patlán, Natalia S. Fernández Dávila, Yuqing Wang, Michelle Zelnick, Eyal Muscal, Martha Curry, James R. Lupski, James R. Lupski, James R. Lupski, Steven M. Holland, Bo Yuan, Douglas B. Kuhns, Tiphanie P. Vogel, Ivan K. Chinn
Published 2024Connect to this object online.
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2
Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome by Alejandra Aird, Macarena Lagos, Macarena Lagos, Alexander Vargas-Hernández, Jennifer E. Posey, Zeynep Coban-Akdemir, Shalini Jhangiani, Shalini Jhangiani, Emily M. Mace, Anaid Reyes, Alejandra King, Felipe Cavagnaro, Lisa R. Forbes, Ivan K. Chinn, James R. Lupski, James R. Lupski, James R. Lupski, Jordan S. Orange, Maria Cecilia Poli, Maria Cecilia Poli
Published 2019Connect to this object online.
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3
Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature by Josefina Longeri Contreras, Mabel A. Ladino, Katherine Aránguiz, Gonzalo P. Mendez, Zeynep Coban-Akdemir, Zeynep Coban-Akdemir, Bo Yuan, Bo Yuan, Richard A. Gibbs, Lindsay C. Burrage, Lindsay C. Burrage, James R. Lupski, James R. Lupski, James R. Lupski, Ivan K. Chinn, Ivan K. Chinn, Tiphanie P. Vogel, Tiphanie P. Vogel, Jordan S. Orange, M. Cecilia Poli, M. Cecilia Poli, M. Cecilia Poli
Published 2021Connect to this object online.
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Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders by Tugce Bozkurt-Yozgatli, Davut Pehlivan, Richard A. Gibbs, Ugur Sezerman, Jennifer E. Posey, James R. Lupski, Zeynep Coban-Akdemir
Published 2024Connect to this object online.
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Correction: Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders by Tugce Bozkurt‑Yozgatli, Davut Pehlivan, Richard A. Gibbs, Ugur Sezerman, Jennifer E. Posey, James R. Lupski, Zeynep Coban‑Akdemir
Published 2024Connect to this object online.
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A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy by Joanna Oswiecimska, Mateusz Dawidziuk, Tomasz Gambin, Katarzyna Ziora, Marta Marek, Sylwia Rzonca, D. Lys Guilbride, Shalini N. Jhangiani, Anna Obuchowicz, Alicja Sikora, James R. Lupski, Wojciech Wiszniewski, Pawel Gawlinski
Published 2019Connect to this object online.
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