Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation
Farrell, Philip M., MD, PhD, White, Terry B., PhD, Ren, Clement L., MD, Hempstead, Sarah E., MS, Accurso, Frank, MD, Derichs, Nico, MD, Howenstine, Michelle, MD, McColley, Susanna A., MD, Rock, Michael, MD, Rosenfeld, Margaret, MD, MPH, Sermet-Gaudelus, Isabelle, MD, PhD, Southern, Kevin W., MBChB, PhD, Marshall, Bruce C., MD, Sosnay, Patrick R., MD
Published in The Journal of pediatrics (01.02.2017)
Published in The Journal of pediatrics (01.02.2017)
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Efficacy and safety of the elexacaftor plus tezacaftor plus ivacaftor combination regimen in people with cystic fibrosis homozygous for the F508del mutation: a double-blind, randomised, phase 3 trial
Heijerman, Harry G M, McKone, Edward F, Downey, Damian G, Van Braeckel, Eva, Rowe, Steven M, Tullis, Elizabeth, Mall, Marcus A, Welter, John J, Ramsey, Bonnie W, McKee, Charlotte M, Marigowda, Gautham, Moskowitz, Samuel M, Waltz, David, Sosnay, Patrick R, Simard, Christopher, Ahluwalia, Neil, Xuan, Fengjuan, Zhang, Yaohua, Taylor-Cousar, Jennifer L, McCoy, Karen S, McCoy, Karen, Donaldson, Scott, Walker, Seth, Chmiel, James, Rubenstein, Ronald, Froh, Deborah K., Neuringer, Isabel, Jain, Manu, Moffett, Kathryn, Taylor-Cousar, Jennifer L., Barnett, Bruce, Mueller, Gary, Flume, Patrick, Livingston, Floyd, Mehdi, Nighat, Teneback, Charlotte, Welter, John, Jain, Raksha, Kissner, Dana, Patel, Kapilkumar, Calimano, Francisco J., Johannes, Jimmy, Daines, Cori, Keens, Thomas, Scher, Herschel, Chittivelu, Subramanyam, Reddivalam, Sudhakar, Klingsberg, Ross Carl, Johnson, Larry G., Verhulst, Stijn, Macedo, Patricia, Downey, Damien, Connett, Gary, Nash, Edward, Withers, Nicholas, Lee, Timothy, Bakker, Marleen, Heijerman, Harry, Vermeulen, Francois, Van Braeckel, Eva, Knoop, Christiane, De Wachter, Elke, van der Meer, Renske, Merkus, Petrus, Majoor, Christof
Published in The Lancet (British edition) (23.11.2019)
Published in The Lancet (British edition) (23.11.2019)
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Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
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
Published in Nature genetics (01.10.2013)
Published in Nature genetics (01.10.2013)
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Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis
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
Published in PLoS genetics (16.11.2018)
Published in PLoS genetics (16.11.2018)
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Sources of Variation in Sweat Chloride Measurements in Cystic Fibrosis
Collaco, Joseph M, Blackman, Scott M, Raraigh, Karen S, Corvol, Harriet, Rommens, Johanna M, Pace, Rhonda G, Boelle, Pierre-Yves, McGready, John, Sosnay, Patrick R, Strug, Lisa J, Knowles, Michael R, Cutting, Garry R
Published in American journal of respiratory and critical care medicine (01.12.2016)
Published in American journal of respiratory and critical care medicine (01.12.2016)
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Applying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and CFTR2 Data to Facilitate Diagnoses
Sosnay, Patrick R., MD, Salinas, Danieli B., MD, White, Terry B., PhD, Ren, Clement L., MD, Farrell, Philip M., MD, PhD, Raraigh, Karen S., MGC, Girodon, Emmanuelle, MD, Castellani, Carlo, MD
Published in The Journal of pediatrics (01.02.2017)
Published in The Journal of pediatrics (01.02.2017)
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Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California
Salinas, Danieli B, Sosnay, Patrick R, Azen, Colleen, Young, Suzanne, Raraigh, Karen S, Keens, Thomas G, Kharrazi, Martin
Published in PloS one (23.05.2016)
Published in PloS one (23.05.2016)
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Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity
Raraigh, Karen S., Han, Sangwoo T., Davis, Emily, Evans, Taylor A., Pellicore, Matthew J., McCague, Allison F., Joynt, Anya T., Lu, Zhongzhou, Atalar, Melis, Sharma, Neeraj, Sheridan, Molly B., Sosnay, Patrick R., Cutting, Garry R.
Published in American journal of human genetics (07.06.2018)
Published in American journal of human genetics (07.06.2018)
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Correlating Cystic Fibrosis Transmembrane Conductance Regulator Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis
McCague, Allison F, Raraigh, Karen S, Pellicore, Matthew J, Davis-Marcisak, Emily F, Evans, Taylor A, Han, Sangwoo T, Lu, Zhongzhou, Joynt, Anya T, Sharma, Neeraj, Castellani, Carlo, Collaco, Joseph M, Corey, Mary, Lewis, Michelle H, Penland, Chris M, Rommens, Johanna M, Stephenson, Anne L, Sosnay, Patrick R, Cutting, Garry R
Published in American journal of respiratory and critical care medicine (01.05.2019)
Published in American journal of respiratory and critical care medicine (01.05.2019)
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Diagnosis of Cystic Fibrosis in Nonscreened Populations
Sosnay, Patrick R., MD, White, Terry B., PhD, Farrell, Philip M., MD, PhD, Ren, Clement L., MD, Derichs, Nico, MD, Howenstine, Michelle S., MD, Nick, Jerry A., MD, De Boeck, Kris, MD
Published in The Journal of pediatrics (01.02.2017)
Published in The Journal of pediatrics (01.02.2017)
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Clinical Phenotypes and Genotypic Spectrum of Cystic Fibrosis in Chinese Children
Shen, Yuelin, PhD, Liu, Jinrong, MD, Zhong, Lili, PhD, Mogayzel, Peter J., MD, PhD, Zeitlin, Pamela L., MD, PhD, Sosnay, Patrick R., MD, PhD, Zhao, Shunying, PhD
Published in The Journal of pediatrics (01.04.2016)
Published in The Journal of pediatrics (01.04.2016)
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Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients
Green, Deanna M, McDougal, Kathryn E, Blackman, Scott M, Sosnay, Patrick R, Henderson, Lindsay B, Naughton, Kathleen M, Collaco, J Michael, Cutting, Garry R
Published in Respiratory research (08.10.2010)
Published in Respiratory research (08.10.2010)
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Transparency and diversity in cystic fibrosis research – Authors' reply
McCoy, Karen S, Heijerman, Harry, Taylor-Cousar, Jennifer L, Waltz, David, Sosnay, Patrick R, Ramsey, Bonnie W, Rowe, Steven, Welter, John
Published in The Lancet (British edition) (29.08.2020)
Published in The Lancet (British edition) (29.08.2020)
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Development of the Cystic Fibrosis Questionnaire-Revised-8 Dimensions: Estimating Utilities From the Cystic Fibrosis Questionnaire-Revised
Acaster, Sarah, Mukuria, Clara, Rowen, Donna, Brazier, John E., Wainwright, Claire E., Quon, Bradley S., Duckers, Jamie, Quittner, Alexandra L., Lou, Yiyue, Sosnay, Patrick R., McGarry, Lisa J.
Published in Value in health (01.04.2023)
Published in Value in health (01.04.2023)
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Safety and efficacy of vanzacaftor-tezacaftor-deutivacaftor in adults with cystic fibrosis: randomised, double-blind, controlled, phase 2 trials
Uluer, Ahmet Z, MacGregor, Gordon, Azevedo, Pilar, Indihar, Veronica, Keating, Claire, Mall, Marcus A, McKone, Edward F, Ramsey, Bonnie W, Rowe, Steven M, Rubenstein, Ronald C, Taylor-Cousar, Jennifer L, Tullis, Elizabeth, Yonker, Lael M, Chu, Chenghao, Lam, Anna P, Nair, Nitin, Sosnay, Patrick R, Tian, Simon, Van Goor, Fredrick, Viswanathan, Lakshmi, Waltz, David, Wang, Linda T, Xi, Yingmei, Billings, Joanne, Horsley, Alexander
Published in The lancet respiratory medicine (01.06.2023)
Published in The lancet respiratory medicine (01.06.2023)
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Experimental Assessment of Splicing Variants Using Expression Minigenes and Comparison with In Silico Predictions
Sharma, Neeraj, Sosnay, Patrick R., Ramalho, Anabela S., Douville, Christopher, Franca, Arianna, Gottschalk, Laura B., Park, Jeenah, Lee, Melissa, Vecchio-Pagan, Briana, Raraigh, Karen S., Amaral, Margarida D., Karchin, Rachel, Cutting, Garry R.
Published in Human mutation (01.10.2014)
Published in Human mutation (01.10.2014)
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