Estimating the burden and economic impact of pediatric genetic disease

por Gonzaludo, Nina, Belmont, John W., Gainullin, Vladimir G., Taft, Ryan J.
Publicado 2018

Correction: Estimating the burden and economic impact of pediatric genetic disease

por Gonzaludo, Nina, Belmont, John W., Gainullin, Vladimir G., Taft, Ryan J.
Publicado 2019

Uniparental disomy in a population of 32,067 clinical exome trios

por Scuffins, Julie, Keller-Ramey, Jennifer, Dyer, Lindsay, Douglas, Ganka, Torene, Rebecca, Gainullin, Vladimir, Juusola, Jane, Meck, Jeanne, Retterer, Kyle
Publicado 2021

Disrupting polycystin-2 EF hand Ca(2+) affinity does not alter channel function or contribute to polycystic kidney disease

por Vien, Thuy N., Ng, Leo C. T., Smith, Jessica M., Dong, Ke, Krappitz, Matteus, Gainullin, Vladimir G., Fedeles, Sorin, Harris, Peter C., Somlo, Stefan, DeCaen, Paul G.
Publicado 2020

ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data

por Dolzhenko, Egor, Bennett, Mark F., Richmond, Phillip A., Trost, Brett, Chen, Sai, van Vugt, Joke J. F. A., Nguyen, Charlotte, Narzisi, Giuseppe, Gainullin, Vladimir G., Gross, Andrew M., Lajoie, Bryan R., Taft, Ryan J., Wasserman, Wyeth W., Scherer, Stephen W., Veldink, Jan H., Bentley, David R., Yuen, Ryan K. C., Bahlo, Melanie, Eberle, Michael A.
Publicado 2020

Genome sequencing in persistently unsolved white matter disorders

por Helman, Guy, Lajoie, Bryan R., Crawford, Joanna, Takanohashi, Asako, Walkiewicz, Marzena, Dolzhenko, Egor, Gross, Andrew M., Gainullin, Vladimir G., Bent, Stephen J., Jenkinson, Emma M., Ferdinandusse, Sacha, Waterham, Hans R., Dorboz, Imen, Bertini, Enrico, Miyake, Noriko, Wolf, Nicole I., Abbink, Truus E. M., Kirwin, Susan M., Tan, Christina M., Hobson, Grace M., Guo, Long, Ikegawa, Shiro, Pizzino, Amy, Schmidt, Johanna L., Bernard, Genevieve, Schiffmann, Raphael, van der Knaap, Marjo S., Simons, Cas, Taft, Ryan J., Vanderver, Adeline
Publicado 2020