Ceyhan-Birsoy O, Talim B, Swanson LC, Karakaya M, Graff MA, Beggs AH, Topaloglu H. Whole exome sequencing reveals DYSF, FKTN, and ISPD mutations in congenital muscular dystrophy without brain or eye involvement. J Neuromuscul Dis 2015;(2):87-92.
McLaughlin HM, Ceyhan-Birsoy O, Christensen K, Kohane IS, Krier J, Lane WJ, Lautenback D, Lebo MS, MacRae C, Metterville D, Murray M, Seidman C, Vassy JL, Green RC, Rehm HL for the MedSeq Project. A physician-friendly approach to the return of results of potential medical relevance from whole genome sequencing. BMC Med Genet 2014 Dec 14;15(1):134.
Kreissl M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, Novak SM, D’Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Swanson LC, Brownstein CA, Gurpta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chiyat D, Telfer WR, Laquerriere A, Gregorip CC, Ottenheijm CA, Bonnemann CG, Pelin K, Beggs AH, Hayashi YK, Melki J, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Fowler VM, MacArthur DG, North KN, Clarke NF. Leiomodin 3 is essential for thin filament organization in skeletal muscle. J Clin Invest 2014 Nov 3;124(11):4693-708.
Martilla M, Lehtokari VL, Marston S, Nyman T, Beggs AH, Bertini E, Ceyhan-Birsoy O, Longman C, Frydman M, Kang P, Kolski H, Lochmuller H, Mercuri E, North K, Pihko H, Probst FJ, Reisin R, Taratuto A, Waddell LB, de Visser M, Wilichowski E, Winer JB, Novak K, Laing N, Winder T, Monnier N, Clarke NF, Pelin K, Gronholm M, Wallgren-Pettersson C. Aberrant tropomyosin-actin binding is the main pathogenic mechanism in tropomyosin-caused congenital myopathies. Hum Mutat 2014 Jul;35(7):779-90.
Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, Swanson LC, DeChene E, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, Fairbrother WG, Granzier H, Beggs AH. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology 2013 Oct 1;81(14):1205-14.
Ravenscroft G, Miyatake S, Lehtokari VL, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, Koshimizu E, Imamura S, Yamashita M, Ogata K, Shiina M, Bryson-Richardson RJ, Vaz R, Ceyhan O, Brownstein CA, Swanson LC, Monnot S, Romero NB, Amthor H, Kresoje N, Sivadorai P, Kiraly-Borri C, Haliloglu G, Talim B, Orhan D, Kale G, Charles AK, Fabian VA, Davis MR, Lammens M, Sewry CA, Manzur A, Muntoni F, Clarke NF, North KN, Bertini E, Nevo Y, Willichowski E, Silberg IE, Topaloglu H, Beggs AH, Allcock RJ, Nishino I, Wallgren-Pettersson C, Matsumoto N, Laing NG. Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am J Hum Genet Jul 11;93(1):6-18.
Ceyhan O, Birsoy K, Hoffman CS. Identification of biologically-active PDE11-selective inhibitors using a yeast-based high throughput screen. Chem Biol 2012 Jan 27;19(1):155-63.
Birsoy K, Berry R, Wang T, Ceyhan O, Tavazoie S, Friedman JM, Rodeheffer MS. Analysis of gene networks in white adipose issue development reveals a role for ETS2 in adipogenesis. Development. 2011 Nov:138(21):4709-19.
Demirbas D, Ceyhan O, Wyman AR, Hoffman CS. A fission yeast-based platform for phosphodiesterase inhibitor HTSs and analyses of phosphodiesterase activity. Book Chapter, Handb Exp Pharmacol. 2011;(204):135-49.
Demirbas D, Ceyhan O, Wyman AR, Ivey FD, Allain C, Wang L, Sharuk MN, Francis SH, Hoffman CS. Use of a Schizosaccharomyces pombe PKA-repressible reporter to study cGMP metabolizing phosphodiesterases. Cell Signal 2011 Mar;23(3):594-601.
Alaamery MA, Wyman AR, Ivey FD, Allain C, Demirbas D, Wang L, Ceyhan O, Hoffman CS. New classes of PDE7 inhibitors identified by a fission yeast-based HTS. J Biomol Screen 2010 Apr;15(4):359-67.
of the Laboratory for Molecular Medicine (LMM) after completing her ABMG fellowship in clinical molecular genetics at Harvard Medical School Genetics Training Program. She also functions as an Assistant Laboratory Director of the Clinical Research Sequencing Platform (CRSP) of the Broad Institute of Harvard and MIT. Dr. Birsoy is interested in tying genomic technologies with advanced clinical interpretation for their effective use in personalized medicine. She is a co-Investigator of the BabySeq Project, the first randomized trial that explores the use of genomic sequencing in newborns. Her main role in the BabySeq Project involves implementation of methods for rapidly interpreting genomic data to facilitate the integration of this technology into newborn screening.
