Churchill: an ultra-fast, deterministic, highly scalable and balanced parallelization strategy for the discovery of human genetic variation in clinical and population-scale genomic...

por Kelly, Benjamin J, Fitch, James R, Hu, Yangqiu, Corsmeier, Donald J, Zhong, Huachun, Wetzel, Amy N, Nordquist, Russell D, Newsom, David L, White, Peter
Publicado 2015

Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery

por Gordon, David M., Cunningham, David, Zender, Gloria, Lawrence, Patrick J., Penaloza, Jacqueline S., Lin, Hui, Fitzgerald-Butt, Sara M., Myers, Katherine, Duong, Tiffany, Corsmeier, Donald J., Gaither, Jeffrey B., Kuck, Harkness C., Wijeratne, Saranga, Moreland, Blythe, Kelly, Benjamin J., Garg, Vidu, White, Peter, McBride, Kim L.
Publicado 2022

Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience

por Miller, Cecelia R., Lee, Kristy, Pfau, Ruthann B., Reshmi, Shalini C., Corsmeier, Donald J., Hashimoto, Sayaka, Dave-Wala, Ashita, Jayaraman, Vijayakumar, Koboldt, Daniel, Matthews, Theodora, Mouhlas, Danielle, Stein, Maggie, McKinney, Aimee, Grossman, Tom, Kelly, Benjamin J., White, Peter, Magrini, Vincent, Wilson, Richard K., Mardis, Elaine R., Cottrell, Catherine E.
Publicado 2020

Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth

por Cottrell, Catherine E., Bender, Nicole R., Zimmermann, Michael T., Heusel, Jonathan W., Corliss, Meagan, Evenson, Michael J., Magrini, Vincent, Corsmeier, Donald J., Avenarius, Matthew, Dudley, Jeffrey N., Johnston, Jennifer J., Lindhurst, Marjorie J., Vigh-Conrad, Katinka, Davies, Olivia M. T., Coughlin, Carrie C., Frieden, Ilona J., Tollefson, Megha, Zaenglein, Andrea L., Ciliberto, Heather, Tosi, Laura L., Semple, Robert K., Biesecker, Leslie G., Drolet, Beth A.
Publicado 2021