Recurrent implantation failure: definition and management
Coughlan, C, Ledger, W, Wang, Q, Liu, Fenghua, Demirol, Aygul, Gurgan, Timur, Cutting, R, Ong, K, Sallam, H, Li, T.C
Published in Reproductive biomedicine online (01.01.2014)
Published in Reproductive biomedicine online (01.01.2014)
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From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations
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
Published in Molecular biology of the cell (01.02.2016)
Published in Molecular biology of the cell (01.02.2016)
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Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
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
Published in Genome medicine (31.12.2019)
Published in Genome medicine (31.12.2019)
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Guidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report
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
Published in The Journal of pediatrics (01.08.2008)
Published in The Journal of pediatrics (01.08.2008)
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Conference Proceeding
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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Assessing the Disease-Liability of Mutations in CFTR
Ferec, Claude, Cutting, Garry R
Published in Cold Spring Harbor perspectives in medicine (01.12.2012)
Published in Cold Spring Harbor perspectives in medicine (01.12.2012)
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The relationship of lung function with ambient temperature
Collaco, Joseph M, Appel, Lawrence J, McGready, John, Cutting, Garry R
Published in PloS one (18.01.2018)
Published in PloS one (18.01.2018)
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Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci
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
Published in PLoS genetics (26.02.2019)
Published in PLoS genetics (26.02.2019)
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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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Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies
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
Published in PLoS genetics (21.10.2020)
Published in PLoS genetics (21.10.2020)
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Meconium Ileus Caused by Mutations in GUCY2C, Encoding the CFTR-Activating Guanylate Cyclase 2C
Romi, Hila, Cohen, Idan, Landau, Daniella, Alkrinawi, Suliman, Yerushalmi, Baruch, Hershkovitz, Reli, Newman-Heiman, Nitza, Cutting, Garry R., Ofir, Rivka, Sivan, Sara, Birk, Ohad S.
Published in American journal of human genetics (04.05.2012)
Published in American journal of human genetics (04.05.2012)
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Mining GWAS and eQTL data for CF lung disease modifiers by gene expression imputation
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
Published in PloS one (30.11.2020)
Published in PloS one (30.11.2020)
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