Publications

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Journal Article
Karaca E, Harel T, Pehlivan D, Jhangiani SN, Gambin T, Akdemir ZCoban, Gonzaga-Jauregui C, Erdin S, Bayram Y, Campbell IM, Hunter JV, Atik MM, Van Esch H, Yuan B, Wiszniewski W, Isikay S, Yesil G, Yuregir OO, Bozdogan STug, Aslan H, Aydin H, Tos T, Aksoy A, De Vivo DC, Jain P, B Geckinli B, Sezer O, Gul D, Durmaz B, Cogulu O, Ozkinay F, Topcu V, Candan S, Cebi AHan, Ikbal M, Gulec EYilmaz, Gezdirici A, Koparir E, Ekici F, Coskun S, Cicek S, Karaer K, Koparir A, Duz MBugrahan, Kirat E, Fenercioglu E, Ulucan H, Seven M, Guran T, Elcioglu N, Yildirim MSelman, Aktas D, Alikaşifoğlu M, Ture M, Yakut T, Overton JD, Yuksel A, Ozen M, Muzny DM, Adams DR, Boerwinkle E, Chung WK, Gibbs RA, Lupski JR. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. Neuron. 2015 ;88(3):499-513.
Yuan B, Pehlivan D, Karaca E, Patel N, Charng W-L, Gambin T, Gonzaga-Jauregui C, V Sutton R, Yesil G, Bozdogan STug, Tos T, Koparir A, Koparir E, Beck CR, Gu S, Aslan H, Yuregir OOzalp, Rubeaan KAl, Alnaqeb D, Alshammari MJ, Bayram Y, Atik MM, Aydin H, B Geckinli B, Seven M, Ulucan H, Fenercioglu E, Ozen M, Jhangiani S, Muzny DM, Boerwinkle E, Tuysuz B, Alkuraya FS, Gibbs RA, Lupski JR. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest. 2015 ;125(2):636-51.
Karaca E, Yuregir OO, Bozdogan ST, Aslan H, Pehlivan D, Jhangiani SN, Akdemir ZC, Gambin T, Bayram Y, Atik MM, Erdin S, Muzny DM, Gibbs RA, Lupski JR. Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome. Am J Med Genet A. 2015 ;167A(11):2795-9.