The Novel CFTR Mutation A457P in a Male with a Delayed Diagnosis of Cystic Fibrosis

por Cole, Kate H., Sosnay, Patrick R., Yarmus, Lonny B., Zuckerman, Jonathan B.
Publicado 2011

Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California

por Salinas, Danieli B., Sosnay, Patrick R., Azen, Colleen, Young, Suzanne, Raraigh, Karen S., Keens, Thomas G., Kharrazi, Martin
Publicado 2016

Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients

por Green, Deanna M, McDougal, Kathryn E, Blackman, Scott M, Sosnay, Patrick R, Henderson, Lindsay B, Naughton, Kathleen M, Collaco, J Michael, Cutting, Garry R
Publicado 2010

Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis

por Sharma, Neeraj, Evans, Taylor A., Pellicore, Matthew J., Davis, Emily, Aksit, Melis A., McCague, Allison F., Joynt, Anya T., Lu, Zhongzhu, Han, Sangwoo T., Anzmann, Arianna F., Lam, Anh-Thu N., Thaxton, Abigail, West, Natalie, Merlo, Christian, Gottschalk, Laura B., Raraigh, Karen S., Sosnay, Patrick R., Cotton, Calvin U., Cutting, Garry R.
Publicado 2018

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

por Sosnay, Patrick R, Siklosi, Karen R, Van Goor, Fredrick, Kaniecki, Kyle, Yu, Haihui, Sharma, Neeraj, Ramalho, Anabela S, Amaral, Margarida D, Dorfman, Ruslan, Zielenski, Julian, Masica, David L, Karchin, Rachel, Millen, Linda, Thomas, Philip J, Patrinos, George P, Corey, Mary, Lewis, Michelle H, Rommens, Johanna M, Castellani, Carlo, Penland, Christopher M, Cutting, Garry R
Publicado 2013