Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement

Por Ceyhan-Birsoy, Ozge, Talim, Beril, Swanson, Lindsay C., Karakaya, Mert, Graff, Michelle A., Beggs, Alan H., Topaloglu, Haluk
Publicado no J Neuromuscul Dis (2015)

Next generation sequencing‐based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies

Por Ceyhan‐Birsoy, Ozge, Pugh, Trevor J., Bowser, Mark J., Hynes, Elizabeth, Frisella, Ashley L., Mahanta, Lisa M., Lebo, Matt S., Amr, Sami S., Funke, Birgit H.
Publicado no Mol Genet Genomic Med (2015)

A systematic approach to the reporting of medically relevant findings from whole genome sequencing

Por McLaughlin, Heather M, Ceyhan-Birsoy, Ozge, Christensen, Kurt D, Kohane, Isaac S, Krier, Joel, Lane, William J, Lautenbach, Denise, Lebo, Matthew S, Machini, Kalotina, MacRae, Calum A, Azzariti, Danielle R, Murray, Michael F, Seidman, Christine E, Vassy, Jason L, Green, Robert C, Rehm, Heidi L
Publicado no BMC Med Genet (2014)

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

Por Ceyhan-Birsoy, Ozge, Agrawal, Pankaj B., Hidalgo, Carlos, Schmitz-Abe, Klaus, DeChene, Elizabeth T., Swanson, Lindsay C., Soemedi, Rachel, Vasli, Nasim, Iannaccone, Susan T., Shieh, Perry B., Shur, Natasha, Dennison, Jane M., Lawlor, Michael W., Laporte, Jocelyn, Markianos, Kyriacos, Fairbrother, William G., Granzier, Henk, Beggs, Alan H.
Publicado em 2013

Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family

Por Zukosky, Kristen, Meilleur, Katherine, Traynor, Bryan J., Dastgir, Jahannaz, Medne, Livija, Devoto, Marcella, Collins, James, Rooney, Jachinta, Zou, Yaqun, Yang, Michele L., Gibbs, J. Raphael, Meier, Markus, Stetefeld, Joerg, Finkel, Richard S., Schessl, Joachim, Elman, Lauren, Felice, Kevin, Ferguson, Toby A., Ceyhan-Birsoy, Ozge, Beggs, Alan H., Tennekoon, Gihan, Johnson, Janel O., Bönnemann, Carsten G.
Publicado no JAMA Neurol (2015)

Newborn Sequencing in Genomic Medicine and Public Health

Por Berg, Jonathan S., Agrawal, Pankaj B., Bailey, Donald B., Beggs, Alan H., Brenner, Steven E., Brower, Amy M., Cakici, Julie A., Ceyhan-Birsoy, Ozge, Chan, Kee, Chen, Flavia, Currier, Robert J., Dukhovny, Dmitry, Green, Robert C., Harris-Wai, Julie, Holm, Ingrid A., Iglesias, Brenda, Joseph, Galen, Kingsmore, Stephen F., Koenig, Barbara A., Kwok, Pui-Yan, Lantos, John, Leeder, Steven J., Lewis, Megan A., McGuire, Amy L., Milko, Laura V., Mooney, Sean D., Parad, Richard B., Pereira, Stacey, Petrikin, Joshua, Powell, Bradford C., Powell, Cynthia M., Puck, Jennifer M., Rehm, Heidi L., Risch, Neil, Roche, Myra, Shieh, Joseph T., Veeraraghavan, Narayanan, Watson, Michael S., Willig, Laurel, Yu, Timothy W., Urv, Tiina, Wise, Anastasia L.
Publicado no Pediatrics (2017)

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

Por Yuen, Michaela, Sandaradura, Sarah A., Dowling, James J., Kostyukova, Alla S., Moroz, Natalia, Quinlan, Kate G., Lehtokari, Vilma-Lotta, Ravenscroft, Gianina, Todd, Emily J., Ceyhan-Birsoy, Ozge, Gokhin, David S., Maluenda, Jérome, Lek, Monkol, Nolent, Flora, Pappas, Christopher T., Novak, Stefanie M., D’Amico, Adele, Malfatti, Edoardo, Thomas, Brett P., Gabriel, Stacey B., Gupta, Namrata, Daly, Mark J., Ilkovski, Biljana, Houweling, Peter J., Davidson, Ann E., Swanson, Lindsay C., Brownstein, Catherine A., Gupta, Vandana A., Medne, Livija, Shannon, Patrick, Martin, Nicole, Bick, David P., Flisberg, Anders, Holmberg, Eva, Van den Bergh, Peter, Lapunzina, Pablo, Waddell, Leigh B., Sloboda, Darcée D., Bertini, Enrico, Chitayat, David, Telfer, William R., Laquerrière, Annie, Gregorio, Carol C., Ottenheijm, Coen A.C., Bönnemann, Carsten G., Pelin, Katarina, Beggs, Alan H., Hayashi, Yukiko K., Romero, Norma B., Laing, Nigel G., Nishino, Ichizo, Wallgren-Pettersson, Carina, Melki, Judith, Fowler, Velia M., MacArthur, Daniel G., North, Kathryn N., Clarke, Nigel F.
Publicado no J Clin Invest (2014)

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

Por Yuen, Michaela, Sandaradura, Sarah A., Dowling, James J., Kostyukova, Alla S., Moroz, Natalia, Quinlan, Kate G., Lehtokari, Vilma-Lotta, Ravenscroft, Gianina, Todd, Emily J., Ceyhan-Birsoy, Ozge, Gokhin, David S., Maluenda, Jérome, Lek, Monkol, Nolent, Flora, Pappas, Christopher T., Novak, Stefanie M., D’Amico, Adele, Malfatti, Edoardo, Thomas, Brett P., Gabriel, Stacey B., Gupta, Namrata, Daly, Mark J., Ilkovski, Biljana, Houweling, Peter J., Davidson, Ann E., Swanson, Lindsay C., Brownstein, Catherine A., Gupta, Vandana A., Medne, Livija, Shannon, Patrick, Martin, Nicole, Bick, David P., Flisberg, Anders, Holmberg, Eva, Van den Bergh, Peter, Lapunzina, Pablo, Waddell, Leigh B., Sloboda, Darcée D., Bertini, Enrico, Chitayat, David, Telfer, William R., Laquerrière, Annie, Gregorio, Carol C., Ottenheijm, Coen A.C., Bönnemann, Carsten G., Pelin, Katarina, Beggs, Alan H., Hayashi, Yukiko K., Romero, Norma B., Laing, Nigel G., Nishino, Ichizo, Wallgren-Pettersson, Carina, Melki, Judith, Fowler, Velia M., MacArthur, Daniel G., North, Kathryn N., Clarke, Nigel F.
Publicado no J Clin Invest (2015)