Cystic fibrosis genetics: from molecular understanding to clinical application von Cutting, Garry R.

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A Likelihood Ratio Approach for Utilizing Case-Control Data in the Clinical Classification of Rare Sequence Variants: Application to BRCA1 and BRCA2 von Zanti, Maria, O'Mahony, Denise G., Parsons, Michael T., Dennis, Joe, Aittomäkkiki, Kristiina, Andrulis, Irene L., Augustinsson, Annelie, Becher, Heiko, Bojesen, Stig E., Bolla, Manjeet K., Brenner, Hermann, Buys, Saundra S., Canzian, Federico, Caputo, Sandrine M., Castelao, Jose E., Chang-Claude, Jenny, GC-HBOC study Collaborators, Czene, Kamila, Daly, Mary B., De Nicolo, Arcangela, Devilee, Peter, Dörk, Thilo, Dwek, Miriam, Engel, Christoph, Evans, D. Gareth, Fasching, Peter A., Gago-Dominguez, Manuela, García-Closas, Montserrat, García-Sáenz, José A., Gentry-Maharaj, Aleksandra, Geurts - Giele, Willemina R. R., Giles, Graham G., Glendon, Gord, Goldberg, Mark S., Güendert, Melanie, Hall, Per, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hopper, John L., Houdayer, Claude, Houlston, Richard S., ABCTB Investigators, Jakimovska, Milena, Jakubowska, Anna, Jernström, Helena, John, Esther M., Kaaks, Rudolf, Kitahara, Cari M., Koutros, Stella, Kraft, Peter, Kristensen, Vessela N., Lacey, James V., Lambrechts, Diether, Léoné, Melanie, Lindblom, Annika, Lubiński, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Martinez, Maria Elena, Milne, Roger L., Monteiro, Alvaro N., Murphy, Rachel A., Nevanlinna, Heli, Newman, William G., Park, Sue K., James, Paul, Peterlongo, Paolo, Peto, Julian, Plaseska-Karanfilska, Dijana, Punie, Kevin, Radice, Paolo, Rashid, Muhammad U., Rennert, Gad, Romero, Atocha, Rosenberg, Efraim H., Saloustros, Emmanouil, Schmutzler, Rita K., Shu, Xiao-Ou, Simard, Jacques, Southey, Melissa C., Stone, Jennifer, Stoppa-Lyonnet, Dominique, Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Teo, Soo Hwang, Teras, Lauren R., Terry, Mary Beth, Thomassen, Mads, Vachon, Celine M., Vega, Ana, Wang, Qin, Weinberg, Clarice R., Wolk, Alicja, Zheng, Wei, Feng, Bingjian, Couch, Fergus J., Spurdle, Amanda B., Easton, Douglas F.

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Modifier genes in Mendelian disorders: the example of cystic fibrosis von Cutting, Garry R.

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In Memoriam: Haig H. Kazazian, Jr. (1937–2022) von Cutting, Garry R.

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Annotating DNA Variants Is the Next Major Goal for Human Genetics von Cutting, Garry R.

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From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations von Veit, Gudio, Avramescu, Radu G, Chiang, Annette N, Houck, Scott A, Cai, Zhiwei, Peters, Kathryn W, Hong, Jeong S, Pollard, Harvey B, Guggino, William B, Balch, William E, Skach, William R, Cutting, Garry R, Frizzell, Raymond A, Sheppard, David N, Cyr, Douglas M, Sorscher, Eric J, Brodsky, Jeffrey L, Lukacs, Gergely L

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Treating Specific Variants Causing Cystic Fibrosis von Cutting, Garry R

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A wearable potentiometric sensor with integrated salt bridge for sweat chloride measurement von Choi, Dong-Hoon, Li, Yi, Cutting, Garry R., Searson, Peter C.

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Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework von Brnich, Sarah E, Abou Tayoun, Ahmad N, Couch, Fergus J, Cutting, Garry R, Greenblatt, Marc S, Heinen, Christopher D, Kanavy, Dona M, Luo, Xi, McNulty, Shannon M, Starita, Lea M, Tavtigian, Sean V, Wright, Matt W, Harrison, Steven M, Biesecker, Leslie G, Berg, Jonathan S

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Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci von Gong, Jiafen, Wang, Fan, Xiao, Bowei, Panjwani, Naim, Lin, Fan, Keenan, Katherine, Avolio, Julie, Esmaeili, Mohsen, Zhang, Lin, He, Gengming, Soave, David, Mastromatteo, Scott, Baskurt, Zeynep, Kim, Sangook, O'Neal, Wanda K, Polineni, Deepika, Blackman, Scott M, Corvol, Harriet, Cutting, Garry R, Drumm, Mitchell, Knowles, Michael R, Rommens, Johanna M, Sun, Lei, Strug, Lisa J

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Guidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report von Farrell, Philip M., MD, PhD, Rosenstein, Beryl J., MD, White, Terry B., PhD, Accurso, Frank J., MD, Castellani, Carlo, MD, Cutting, Garry R., MD, Durie, Peter R., MD, FRCP, LeGrys, Vicky A., DrA, CLS, Massie, John, MBBS, FRACP, PhD, Parad, Richard B., MD, MPH, Rock, Michael J., MD, Campbell, Preston W., 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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The relationship of lung function with ambient temperature von Collaco, Joseph M, Appel, Lawrence J, McGready, John, Cutting, Garry R

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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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Wearable Potentiometric Chloride Sweat Sensor: The Critical Role of the Salt Bridge von Choi, Dong-Hoon, Kim, Jin Seob, Cutting, Garry R, Searson, Peter C

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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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Ligand-free biodegradable poly(beta-amino ester) nanoparticles for targeted systemic delivery of mRNA to the lungs von Kavanagh, Erin W., Tzeng, Stephany Y., Sharma, Neeraj, Cutting, Garry R., Green, Jordan J.

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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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Mining GWAS and eQTL data for CF lung disease modifiers by gene expression imputation von Dang, Hong, Polineni, Deepika, Pace, Rhonda G, Stonebraker, Jaclyn R, Corvol, Harriet, Cutting, Garry R, Drumm, Mitchell L, Strug, Lisa J, O'Neal, Wanda K, Knowles, Michael R

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