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

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

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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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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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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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Recurrent implantation failure: definition and management von Coughlan, C, Ledger, W, Wang, Q, Liu, Fenghua, Demirol, Aygul, Gurgan, Timur, Cutting, R, Ong, K, Sallam, H, Li, T.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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Assessing the Disease-Liability of Mutations in CFTR von Ferec, Claude, Cutting, Garry R

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Pandemic Parallels: Common Threads between the emergence of SARS-CoV-2 and HIV von Cutting, R., May, M.

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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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Modifier genetics: cystic fibrosis von 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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Annotating DNA Variants Is the Next Major Goal for Human Genetics von 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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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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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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Mineralogical and morphological constraints on the reduction of Fe(III) minerals by Geobacter sulfurreducens von Cutting, R.S., Coker, V.S., Fellowes, J.W., Lloyd, J.R., Vaughan, D.J.

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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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The diagnosis of cystic fibrosis: A consensus statement von Rosenstein, Beryl J., Cutting, Garry R.

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria von Pejaver, Vikas, Byrne, Alicia B., Feng, Bing-Jian, Pagel, Kymberleigh A., Mooney, Sean D., Karchin, Rachel, O’Donnell-Luria, Anne, Harrison, Steven M., Tavtigian, Sean V., Greenblatt, Marc S., Biesecker, Leslie G., Radivojac, Predrag, Brenner, Steven E., Biesecker, Leslie G., Harrison, Steven M., Tayoun, Ahmad A., Berg, Jonathan S., Brenner, Steven E., Cutting, Garry R., Ellard, Sian, Greenblatt, Marc S., Kang, Peter, Karbassi, Izabela, Karchin, Rachel, Mester, Jessica, O’Donnell-Luria, Anne, Pesaran, Tina, Plon, Sharon E., Rehm, Heidi L., Strande, Natasha T., Tavtigian, Sean V., Topper, Scott

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