Davut Pehlivan, MD
As a doctor my philosophy is to treat and care for any individual regardless of their background. Seeing the recovery of a child (a crying, debilitated child to a smiling and running around child) is the best reward I can get in life.
My clinical interest in neurology is broadly neurogenetic conditions more specifically neuromuscular disorders and brain development/malformation disorders.
I like to perform research on genetically undiagnosed patients using cutting edge genetic technology. In the long term, I would like to develop treatments and eventually apply them to my patients in clinic.
Karaca E, Posey JE, Coban Akdemir Z, Pehlivan D, Harel T, Jhangiani SN, Bayram Y, Song X, Bahrambeigi V, Yuregir OO, Bozdogan S, Yesil G, Isikay S, Muzny D, Gibbs RA, Lupski JR. Phenotypic expansion illuminates multilocus pathogenic variation. Genetics in Medicine 2018 Apr 26. doi: 10.1038/gim.2018.33.
Pehlivan D, Beck CR, Okamoto Y, Harel T, Akdemir ZH, Jhangiani SN, Withers MA, Goksungur MT, Carvalho CM, Czesnik D, Gonzaga-Jauregui C, Wiszniewski W, Muzny DM, Gibbs RA, Rautenstrauss B, Sereda MW, Lupski JR. The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genetics in Medicine 2016 May;18(5):443-51.
Karaca E, Harel T, Pehlivan D, Jhangiani SN, ….. Chung WK, Gibbs RA, Lupski JR.Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. Neuron 2015 Nov 4;88(3):499-513.
Gonzaga-Jauregui C, Harel T, Gambin T, Kousi M, Griffin LB, Francescatto L, Ozes B, Karaca E, Jhangiani SN, Bainbridge MN, Lawson KS, Pehlivan D, Okamoto Y, ……….. Katsanis N, Battaloglu E, Boerwinkle E, Gibbs RA, Lupski JR. Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. Cell Report 2015 Aug 18;12(7):1169-83.
Pehlivan D, Coban Akdemir Z, Karaca E, Bayram Y, Jhangiani S, Yildiz EP, Muzny D, Uluc K, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics, Elcioglu N, Lupski JR, Harel T. Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis. Human Genetics 2015 Jun;134(6):671-3.
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