Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis von Corvol, Harriet, Blackman, Scott M., Boëlle, Pierre-Yves, Gallins, Paul J., Pace, Rhonda G., Stonebraker, Jaclyn R., Accurso, Frank J., Clement, Annick, Collaco, Joseph M., Dang, Hong, Dang, Anthony T., Franca, Arianna, Gong, Jiafen, Guillot, Loic, Keenan, Katherine, Li, Weili, Lin, Fan, Patrone, Michael V., Raraigh, Karen S., Sun, Lei, Zhou, Yi-Hui, O’Neal, Wanda K., Sontag, Marci K., Levy, Hara, Durie, Peter R., Rommens, Johanna M., Drumm, Mitchell L., Wright, Fred A., Strug, Lisa J., Cutting, Garry R., Knowles, Michael 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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Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies von Joynt, Anya T., Evans, Taylor A., Pellicore, Matthew J., Davis-Marcisak, Emily F., Aksit, Melis A., Eastman, Alice C., Patel, Shivani U., Paul, Kathleen C., Osorio, Derek L., Bowling, Alyssa D., Cotton, Calvin U., Raraigh, Karen S., West, Natalie E., Merlo, Christian A., Cutting, Garry R., Sharma, Neeraj

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Genetic Modifiers of Cystic Fibrosis-Related Diabetes Have Extensive Overlap With Type 2 Diabetes and Related Traits von Aksit, Melis A, Pace, Rhonda G, Vecchio-Pagán, Briana, Ling, Hua, Rommens, Johanna M, Boelle, Pierre-Yves, Guillot, Loic, Raraigh, Karen S, Pugh, Elizabeth, Zhang, Peng, Strug, Lisa J, Drumm, Mitch L, Knowles, Michael R, Cutting, Garry R, Corvol, Harriet, Blackman, Scott M

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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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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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Standards of care for CFTR variant-specific therapy (including modulators) for people with cystic fibrosis von Southern, Kevin W., Castellani, Carlo, Lammertyn, Elise, Smyth, Alan, VanDevanter, Donald, van Koningsbruggen-Rietschel, Silke, Barben, Jürg, Bevan, Amanda, Brokaar, Edwin, Collins, Sarah, Connett, Gary J., Daniels, Thomas W.V., Davies, Jane, Declercq, Dimitri, Gartner, Silvia, Gramegna, Andrea, Hamilton, Naomi, Hauser, Jenny, Kashirskaya, Nataliya, Kessler, Laurence, Lowdon, Jacqueline, Makukh, Halyna, Martin, Clémence, Morrison, Lisa, Nazareth, Dilip, Noordhoek, Jacquelien, O'Neill, Ciaran, Owen, Elizabeth, Oxley, Helen, Raraigh, Karen S., Raynal, Caroline, Robinson, Karen, Roehmel, Jobst, Schwarz, Carsten, Sermet, Isabelle, Shteinberg, Michal, Sinha, Ian, Takawira, Constance, van Mourik, Peter, Verkleij, Marieke, Waller, Michael D., Duff, Alistair

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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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Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients von Zhou, Yi-Hui, Gallins, Paul J, Pace, Rhonda G, Dang, Hong, Aksit, Melis A, Blue, Elizabeth E, Buckingham, Kati J, Collaco, Joseph M, Faino, Anna V, Gordon, William W, Hetrick, Kurt N, Ling, Hua, Liu, Weifang, Onchiri, Frankline M, Pagel, Kymberleigh, Pugh, Elizabeth W, Raraigh, Karen S, Rosenfeld, Margaret, Sun, Quan, Wen, Jia, Li, Yun, Corvol, Harriet, Strug, Lisa J, Bamshad, Michael J, Blackman, Scott M, Cutting, Garry R, Gibson, Ronald L, O'Neal, Wanda K, Wright, Fred A, Knowles, Michael R

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Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis von Persico, Ilaria, Feresin, Agnese, Faleschini, Michela, Fontana, Giorgia, Sirchia, Fabio, Faletra, Flavio, La Bianca, Martina, Suergiu, Sarah, Morgutti, Marcello, Maschio, Massimo, D'Adamo, Adamo Pio, Raraigh, Karen S., Savoia, Anna, Bottega, Roberta

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Two rare variants that affect the same amino acid in CFTR have distinct responses to ivacaftor von Li, Hongyu, Rodrat, Mayuree, Al‐Salmani, Majid K., Veselu, Diana‐Florentina, Han, Sangwoo T., Raraigh, Karen S., Cutting, Garry R., Sheppard, David N.

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The future of cystic fibrosis care: a global perspective von Bell, Scott C, Mall, Marcus A, Gutierrez, Hector, Macek, Milan, Madge, Susan, Davies, Jane C, Burgel, Pierre-Régis, Tullis, Elizabeth, Castaños, Claudio, Castellani, Carlo, Byrnes, Catherine A, Cathcart, Fiona, Chotirmall, Sanjay H, Cosgriff, Rebecca, Eichler, Irmgard, Fajac, Isabelle, Goss, Christopher H, Drevinek, Pavel, Farrell, Philip M, Gravelle, Anna M, Havermans, Trudy, Mayer-Hamblett, Nicole, Kashirskaya, Nataliya, Kerem, Eitan, Mathew, Joseph L, McKone, Edward F, Naehrlich, Lutz, Nasr, Samya Z, Oates, Gabriela R, O'Neill, Ciaran, Pypops, Ulrike, Raraigh, Karen S, Rowe, Steven M, Southern, Kevin W, Sivam, Sheila, Stephenson, Anne L, Zampoli, Marco, Ratjen, Felix

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Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites von Lee, Melissa, Roos, Patrick, Sharma, Neeraj, Atalar, Melis, Evans, Taylor A., Pellicore, Matthew J., Davis, Emily, Lam, Anh-Thu N., Stanley, Susan E., Khalil, Sara E., Solomon, George M., Walker, Doug, Raraigh, Karen S., Vecchio-Pagan, Briana, Armanios, Mary, Cutting, Garry R.

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Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG) von Deignan, Joshua L., Gregg, Anthony R., Grody, Wayne W., Guo, Michael H., Kearney, Hutton, Monaghan, Kristin G., Raraigh, Karen S., Taylor, Jennifer, Zepeda-Mendoza, Cinthya J., Ziats, Catherine

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Cystic Fibrosis Foundation Evidence-Based Guideline for the Management of CRMS/CFSPID von Green, Deanna M, Lahiri, Thomas, Raraigh, Karen S, Ruiz, Fadel, Spano, Jacquelyn, Antos, Nicholas, Bonitz, Lynn, Christon, Lillian, Gregoire-Bottex, Myrtha, Hale, Jaime E, Langfelder-Schwind, Elinor, La Parra Perez, Álvaro, Maguiness, Karen, Massie, John, McElroy-Barker, Erin, McGarry, Meghan E, Mercier, Angelique, Munck, Anne, Oliver, Kathryn E, Self, Staci, Singh, Kathryn, Smiley, Michael, Snodgrass, Steven, Tluczek, Audrey, Tuley, Pamela, Lomas, Paula, Wong, Elise, Hempstead, Sarah E, Faro, Albert, Ren, Clement L

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In vitro modulator responsiveness of 655 CFTR variants found in people with cystic fibrosis von Bihler, Hermann, Sivachenko, Andrey, Millen, Linda, Bhatt, Priyanka, Patel, Amita Thakerar, Chin, Justin, Bailey, Violaine, Musisi, Isaac, LaPan, André, Allaire, Normand E., Conte, Joshua, Simon, Noah R., Magaret, Amalia S., Raraigh, Karen S., Cutting, Garry R., Skach, William R., Bridges, Robert J., Thomas, Philip J., Mense, Martin

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Genetic counseling access for parents of newborns who screen positive for cystic fibrosis: Consensus guidelines von Langfelder‐Schwind, Elinor, Raraigh, Karen S., Parad, Richard B., Balcom, Jessica R., Birnbaum, Virginia K., Darrah, Rebecca, Farrell, Philip M., Foil, Kimberly, Ghate, Sumedha, Greene, Lisa, Gutierrez, Hector, Hopfer, Sidney, McColley, Susanna A., Lurie, Robert H., Nasr, Samya Z., Ren, Clement L., Salinas, Danieli B., Siracusa, Christopher, Taylor, Erin, Temme, Renee, Tluczek, Audrey

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Ethnicity impacts the cystic fibrosis diagnosis: A note of caution von Bosch, Barbara, Bilton, Diana, Sosnay, Patrick, Raraigh, Karen S, Mak, Denise Y.F, Ishiguro, Hiroshi, Gulmans, Vincent, Thomas, Muriel, Cuppens, Harry, Amaral, Margarida, De Boeck, Kris

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The increasing challenge of genetic counseling for cystic fibrosis von Foil, Kimberly E., Powers, Amy, Raraigh, Karen S., Wallis, Kimberly, Southern, Kevin W., Salinas, Danieli

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