Publications

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2015
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, Withers M, Mancias P, Slavotinek A, Reitnauer PJ, Goksungur MT, Shy M, Crawford TO, Koenig M, Willer J, Flores BN, Pediaditrakis I, Us O, Wiszniewski W, Parman Y, Antonellis A, Muzny DM, 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 Rep. 2015 ;12(7):1169-83.
Bayram Y, Aydin H, Gambin T, Akdemir ZCoban, Atik MM, Karaca E, Karaman A, Pehlivan D, Jhangiani SN, Gibbs RA, Lupski JR. Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI. Am J Med Genet A. 2015 ;167A(9):2132-7.
Pehlivan D, Akdemir ZCoban, Karaca E, Bayram Y, Jhangiani S, Yildiz EPembegul, Muzny DM, Uluc K, Gibbs RA, Elcioglu N, Lupski JR, Harel T. Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis. Hum Genet. 2015 ;134(6):671-3.
Beck TF, Campeau PM, Jhangiani SN, Gambin T, Li AH, Abo-Zahrah R, Jordan VK, Hernandez-Garcia A, Wiszniewski WK, Muzny DM, Gibbs RA, Boerwinkle E, Lupski JR, Lee B, Reardon W, Scott DA. FBN1 contributing to familial congenital diaphragmatic hernia. Am J Med Genet A. 2015 ;167A(4):831-6.
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.
Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, Akdemir ZHCoban, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, Hoover-Fong J, Mathews D, P Witmer D, Ling H, Hetrick K, Watkins L, Patterson KE, Reinier F, Blue E, Muzny DM, Kircher M, Bilguvar K, López-Giráldez F, V Sutton R, Tabor HK, Leal SM, Gunel M, Mane S, Gibbs RA, Boerwinkle E, Hamosh A, Shendure J, Lupski JR, Lifton RP, Valle D, Nickerson DA, Bamshad MJ. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Am J Hum Genet. 2015 ;97(2):199-215.
Bainbridge MN, Armstrong GN, M Gramatges M, Bertuch AA, Jhangiani SN, Doddapaneni H, Lewis L, Tombrello J, Tsavachidis S, Liu Y, Jalali A, Plon SE, Lau CC, Parsons DW, Claus EB, Barnholtz-Sloan J, Il'yasova D, Schildkraut J, Ali-Osman F, Sadetzki S, Johansen C, Houlston RS, Jenkins RB, Lachance D, Olson SH, Bernstein JL, Merrell RT, Wrensch MR, Walsh KM, Davis FG, Lai R, Shete S, Aldape K, Amos CI, Thompson PA, Muzny DM, Gibbs RA, Melin BS, Bondy ML. Germline mutations in shelterin complex genes are associated with familial glioma. J Natl Cancer Inst. 2015 ;107(1):384.
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.
Bayram Y, Gulsuner S, Guran T, Abaci A, Yesil G, Gulsuner HUnal, Atay Z, Pierce SB, Gambin T, Lee M, Turan S, Bober E, Atik MM, Walsh T, Karaca E, Pehlivan D, Jhangiani SN, Muzny DM, Bereket A, Buyukgebiz A, Boerwinkle E, Gibbs RA, King M-C, Lupski JR. Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism. J Clin Endocrinol Metab. 2015 ;100(5):E808-14.
Gonzaga-Jauregui C, Gamble CN, Yuan B, Penney S, Jhangiani S, Muzny DM, Gibbs RA, Lupski JR, Hecht JT. Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population. Eur J Hum Genet. 2015 ;23(3):342-6.
Riveiro-Álvarez R, Xie YAngela, López-Martínez M-Á, Gambin T, Pérez-Carro R, Ávila-Fernández A, López-Molina M-I, Zernant J, Jhangiani S, Muzny DM, Yuan B, Boerwinkle E, Gibbs RA, Lupski JR, Ayuso C, Allikmets R. New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. JAMA Ophthalmol. 2015 ;133(2):133-9.
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.
Jalali A, E Amirian S, Bainbridge MN, Armstrong GN, Liu Y, Tsavachidis S, Jhangiani SN, Plon SE, Lau CC, Claus EB, Barnholtz-Sloan JS, Il'yasova D, Schildkraut J, Ali-Osman F, Sadetzki S, Johansen C, Houlston RS, Jenkins RB, Lachance D, Olson SH, Bernstein JL, Merrell RT, Wrensch MR, Davis FG, Lai R, Shete S, Aldape K, Amos CI, Muzny DM, Gibbs RA, Melin BS, Bondy ML. Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene Consortium. Sci Rep. 2015 ;5:8278.
Collison FT, Xie YAngela, Gambin T, Jhangiani S, Muzny DM, Gibbs RA, Lupski JR, Fishman GA, Allikmets R. Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy. Ophthalmic Genet. 2015 ;36(3):270-5.
Karaca E, Buyukkaya R, Pehlivan D, Charng W-L, Yaykasli KO, Bayram Y, Gambin T, Withers M, Atik MM, Arslanoglu I, Bolu S, Erdin S, Buyukkaya A, Yaykasli E, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR. Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome. J Clin Endocrinol Metab. 2015 ;100(1):E140-7.
Ramasamy R, M Bakırcıoğlu E, Cengiz C, Karaca E, Scovell J, Jhangiani SN, Akdemir ZC, Bainbridge M, Yu Y, Huff C, Gibbs RA, Lupski JR, Lamb DJ. Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia. Fertil Steril. 2015 ;104(2):286-91.
McMichael G, Bainbridge MN, Haan E, Corbett M, Gardner A, Thompson S, van Bon BWM, van Eyk CL, Broadbent J, Reynolds C, O'Callaghan ME, Nguyen LS, Adelson DL, Russo R, Jhangiani S, Doddapaneni H, Muzny DM, Gibbs RA, Gecz J, MacLennan AH. Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy. Mol Psychiatry. 2015 ;20(2):176-82.
2014
Yamamoto S, Jaiswal M, Charng W-L, Gambin T, Karaca E, Mirzaa G, Wiszniewski W, Sandoval H, Haelterman NA, Xiong B, Zhang K, Bayat V, David G, Li T, Chen K, Gala U, Harel T, Pehlivan D, Penney S, Vissers LELM, de Ligt J, Jhangiani SN, Xie Y, Tsang SH, Parman Y, Sivaci M, Battaloglu E, Muzny DM, Wan Y-W, Liu Z, Lin-Moore AT, Clark RD, Curry CJ, Link N, Schulze KL, Boerwinkle E, Dobyns WB, Allikmets R, Gibbs RA, Chen R, Lupski JR, Wangler MF, Bellen HJ. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell. 2014 ;159(1):200-214.
Wangler MF, Gonzaga-Jauregui C, Gambin T, Penney S, Moss T, Chopra A, Probst FJ, Xia F, Yang Y, Werlin S, Eglite I, Kornejeva L, Bacino CA, Baldridge D, Neul J, Lehman ELev, Larson A, Beuten J, Muzny DM, Jhangiani S, Gibbs RA, Lupski JR, Beaudet A. Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genet. 2014 ;10(3):e1004258.
Karaca E, Weitzer S, Pehlivan D, Shiraishi H, Gogakos T, Hanada T, Jhangiani SN, Wiszniewski W, Withers M, Campbell IM, Erdin S, Isikay S, Franco LM, Gonzaga-Jauregui C, Gambin T, Gelowani V, Hunter JV, Yesil G, Koparir E, Yilmaz S, Brown M, Briskin D, Hafner M, Morozov P, Farazi TA, Bernreuther C, Glatzel M, Trattnig S, Friske J, Kronnerwetter C, Bainbridge MN, Gezdirici A, Seven M, Muzny DM, Boerwinkle E, Ozen M, Clausen T, Tuschl T, Yuksel A, Hess A, Gibbs RA, Martinez J, Penninger JM, Lupski JR. Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell. 2014 ;157(3):636-50.
Rainger J, Pehlivan D, Johansson S, Bengani H, Sanchez-Pulido L, Williamson KA, Ture M, Barker H, Rosendahl K, Spranger J, Horn D, Meynert A, Floyd JAB, Prescott T, Anderson CA, Rainger JK, Karaca E, Gonzaga-Jauregui C, Jhangiani S, Muzny DM, Seawright A, Soares DC, Kharbanda M, Murday V, Finch A, Gibbs RA, van Heyningen V, Taylor MS, Yakut T, Knappskog PM, Hurles ME, Ponting CP, Lupski JR, Houge G, FitzPatrick DR. Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. Am J Hum Genet. 2014 ;94(6):915-23.
Xie YAngela, Lee W, Cai C, Gambin T, Nõupuu K, Sujirakul T, Ayuso C, Jhangiani S, Muzny DM, Boerwinkle E, Gibbs RA, Greenstein VC, Lupski JR, Tsang SH, Allikmets R. New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11. Hum Mol Genet. 2014 ;23(21):5774-80.
Bosch DGM, F Boonstra N, Gonzaga-Jauregui C, Xu M, de Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers LELM, Spruijt L, Blokland EAW, Chen C-A, Lewis RA, Tsai SY, Gibbs RA, Tsai M-J, Lupski JR, Zoghbi HY, Cremers FPM, de Vries BBA, Schaaf CP. NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet. 2014 ;94(2):303-9.
Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HChristian, Gambin T, Elgstøen KBP, Bjørås M, Wlodarski MW, Krüger M, Jhangiani SN, Muzny DM, Patel A, Raymond KM, Sasa GS, Krance RA, Martinez CA, Abraham SM, Speckmann C, Ehl S, Hall P, Forbes LR, Merckoll E, Westvik J, Nishimura G, Rustad CF, Abrahamsen TG, Rønnestad A, Osnes LT, Egeland T, Rødningen OK, Beck CR, Boerwinkle E, Gibbs RA, Lupski JR, Orange JS, Lausch E, I Hanson C. PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. Am J Hum Genet. 2014 ;95(1):96-107.
Bayram Y, Pehlivan D, Karaca E, Gambin T, Jhangiani SN, Erdin S, Gonzaga-Jauregui C, Wiszniewski W, Muzny DM, Elcioglu NH, M Yildirim S, Bozkurt B, Zamani AGul, Boerwinkle E, Gibbs RA, Lupski JR. Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. Am J Med Genet A. 2014 ;164A(9):2328-34.