Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation von 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

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

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

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Sweat test for cystic fibrosis: Wearable sweat sensor vs. standard laboratory test von Choi, Dong-Hoon, Thaxton, Abigail, Jeong, In cheol, Kim, Kain, Sosnay, Patrick R., Cutting, Garry R., Searson, Peter C.

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Applying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and CFTR2 Data to Facilitate Diagnoses von 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

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Clinical Phenotypes and Genotypic Spectrum of Cystic Fibrosis in Chinese Children von 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

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Diagnosis of Cystic Fibrosis in Nonscreened Populations von 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

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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 von Salinas, Danieli B, Sosnay, Patrick R, Azen, Colleen, Young, Suzanne, Raraigh, Karen S, Keens, Thomas G, Kharrazi, Martin

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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, random... von 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

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Psychometric performance of the CFQ-R-8D compared to the EQ-5D-3L and SF-6D in people with cystic fibrosis von Mukuria, Clara, Rowen, Donna, Acaster, Sarah, McGarry, Lisa J., Lou, Yiyue, Sosnay, Patrick R., Quittner, Alexandra L.

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Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients von Green, Deanna M, McDougal, Kathryn E, Blackman, Scott M, Sosnay, Patrick R, Henderson, Lindsay B, Naughton, Kathleen M, Collaco, J Michael, Cutting, Garry R

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Design, Implementation, and Evaluation of a Simulation-Based Clinical Correlation Curriculum as an Adjunctive Pedagogy in an Anatomy Course von Coombs, Carmen M., Shields, Ryan Y., Hunt, Elizabeth A., Lum, Ying Wei, Sosnay, Patrick R., Perretta, Julianne S., Lieberman, Rhett H., Shilkofski, Nicole A.

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A sequence upstream of canonical PDZ-binding motif within CFTR COOH-terminus enhances NHERF1 interaction von Sharma, Neeraj, LaRusch, Jessica, Sosnay, Patrick R, Gottschalk, Laura B, Lopez, Andrea P, Pellicore, Matthew J, Evans, Taylor, Davis, Emily, Atalar, Melis, Na, Chan-Hyun, Rosson, Gedge D, Belchis, Deborah, Milewski, Michal, Pandey, Akhilesh, Cutting, Garry R

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Sources of Variation in Sweat Chloride Measurements in Cystic Fibrosis von 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

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Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity von 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.

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Correlating Cystic Fibrosis Transmembrane Conductance Regulator Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis von 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

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Challenges in Cystic Fibrosis Newborn Screening and Recommendations for Primary Care Physicians von Sosnay, Patrick R, Farrell, Philip

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Safety and efficacy of vanzacaftor–tezacaftor–deutivacaftor in adults with cystic fibrosis: randomised, double-blind, controlled, phase 2 trials von 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, Horsley, Alexander, Nash, Edward F., Bakker, Marleen, van der Meer, Renske, Merkus, Petrus, Majoor, Christof, McCoy, Karen, Billings, Joanne, Pancham, Krishna, Tolle, James, Quick, Bryon, Uluer, Ahmet, DiMango, Emily, Rao, Adupa, Reyes, Santiago, Klingsberg, Ross, Barreto, Celeste, Ortega, Victor, Willey-Courand, Donna, Schwarz, Carsten, Sutharsan, Sivagurunathan, Fischer, Rainald, Davies, Jane, Duckers, Jamie, Doe, Simon, Heijerman, Harry, Solomon, George M., Merlo, Christian, Griffonnet, Jennifer, Pilewski, Joseph, Dunitz, Jordan, Sheikh, Saba, Rubenstein, Ronald C., Rosenbluth, Daniel B., Liou, Theodore, Indihar, Maria, Yonker, Lael, Nasr, Samya, Brown, Cynthia D., Sawicki, Gregory S., Ruddy, Jennifer, Garcia, Bryan, Braun, Andrew, Gifford, Alex H., Mehdi, Nighat, Tupayachi Ortiz, Maria, Jain, Raksha, Calimano, Francisco J., Johannes, Jimmy, Daines, Cori L., Fullmer, Jason, Mermis, Joel, Barrios, Christopher, Ly, Ngoc, Casserly, Brian P., Eisenmann, Stephan, Hebestreit, Helge, Kiefer, Alexander, MacGregor, Gordon, Peckham, Daniel, Ledson, Martin, Van Braeckel, Eva, McElvaney, Noel Gerard, McKone, Edward, Plant, Barry, Burr, Lucy, Smith, Daniel J., Middleton, Peter, Wilson, John

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Transparency and diversity in cystic fibrosis research – Authors' reply von McCoy, Karen S, Heijerman, Harry, Taylor-Cousar, Jennifer L, Waltz, David, Sosnay, Patrick R, Ramsey, Bonnie W, Rowe, Steven, Welter, John

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Interpretation of genetic variants von Sosnay, Patrick R, Cutting, Garry R

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