Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: CFTR: 2908G>C; Gly970Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Current and Future Therapeutic Approaches of Exocrine Pancreatic Insufficiency in Children with Cystic Fibrosis in the Era of Personalized Medicine.

Pharmaceutics

Ritivoiu, Mirela-Elena ME; Drăgoi, Cristina Manuela CM; Matei, Dumitru D; Stan, Iustina Violeta IV; Nicolae, Alina Crenguţa AC; Craiu, Mihai M; Dumitrescu, Ion-Bogdan IB; Ciolpan, Alina Angelica AA

Publication Date: 2023-01-03

Variant appearance in text: CFTR: G970R

PubMed Link: 36678791

Variant Present in the following documents:

• Main text
• pharmaceutics-15-00162.pdf

View BVdb publication page

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Advances in Preclinical In Vitro Models for the Translation of Precision Medicine for Cystic Fibrosis.

Journal Of Personalized Medicine

Silva, Iris A L IAL; Laselva, Onofrio O; Lopes-Pacheco, Miquéias M

Publication Date: 2022-08-16

Variant appearance in text: CFTR: 2908G>C; G970R

PubMed Link: 36013270

Variant Present in the following documents:

• Main text
• jpm-12-01321.pdf

View BVdb publication page

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The Exocrine Pancreas in Cystic Fibrosis in the Era of CFTR Modulation: A Mini Review.

Frontiers In Pediatrics

McKay, Isabelle R IR; Ooi, Chee Y CY

Publication Date: 2022

Variant appearance in text: CFTR: G970R

PubMed Link: 35832587

Variant Present in the following documents:

• Main text
• fped-10-914790.pdf

View BVdb publication page

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One Size Does Not Fit All: The Past, Present and Future of Cystic Fibrosis Causal Therapies.

Cells

Ensinck, Marjolein M MM; Carlon, Marianne S MS

Publication Date: 2022-06-08

Variant appearance in text: CFTR: 2908G>C; G970R

PubMed Link: 35740997

Variant Present in the following documents:

• Main text
• cells-11-01868.pdf

View BVdb publication page

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CFTR Modulators in People with Cystic Fibrosis: Real-World Evidence in France.

Cells

Regard, Lucile L; Martin, Clémence C; Burnet, Espérie E; Da Silva, Jennifer J; Burgel, Pierre-Régis PR

Publication Date: 2022-05-28

Variant appearance in text: CFTR: G970R

PubMed Link: 35681464

Variant Present in the following documents:

• cells-11-01769.pdf

View BVdb publication page

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Author Correction: Spatial covariance analysis reveals the residue-by-residue thermodynamic contribution of variation to the CFTR fold.

Communications Biology

Anglès, Frédéric F; Wang, Chao C; Balch, William E WE

Publication Date: 2022-05-18

Variant appearance in text: CFTR: G970R

PubMed Link: 35585144

Variant Present in the following documents:

• 42003_2022_3457_MOESM1_ESM.pdf

View BVdb publication page

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The impact of FDA and EMA regulatory decision-making process on the access to CFTR modulators for the treatment of cystic fibrosis.

Orphanet Journal Of Rare Diseases

Costa, Enrico E; Girotti, Silvia S; Pauro, Francesca F; Leufkens, Hubert G M HGM; Cipolli, Marco M

Publication Date: 2022-05-07

Variant appearance in text: CFTR: G970R

PubMed Link: 35525974

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2350.pdf

View BVdb publication page

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CFTR Modulator Therapies: Potential Impact on Airway Infections in Cystic Fibrosis.

Cells

Saluzzo, Francesca F; Riberi, Luca L; Messore, Barbara B; Loré, Nicola Ivan NI; Esposito, Irene I; Bignamini, Elisabetta E; De Rose, Virginia V

Publication Date: 2022-04-06

Variant appearance in text: CFTR: G970R

PubMed Link: 35406809

Variant Present in the following documents:

• cells-11-01243.pdf

View BVdb publication page

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Forskolin-induced organoid swelling is associated with long-term cystic fibrosis disease progression.

The European Respiratory Journal

Muilwijk, Danya D; de Poel, Eyleen E; van Mourik, Peter P; Suen, Sylvia W F SWF; Vonk, Annelotte M AM; Brunsveld, Jesse E JE; Kruisselbrink, Evelien E; Oppelaar, Hugo H; Hagemeijer, Marne C MC; Berkers, Gitte G; de Winter-de Groot, Karin M KM; Heida-Michel, Sabine S; Jans, Stephan R SR; van Panhuis, Hannah H; van der Eerden, Menno M MM; van der Meer, Renske R; Roukema, Jolt J; Dompeling, Edward E; Weersink, Els J M EJM; Koppelman, Gerard H GH; Vries, Robert R; Zomer-van Ommen, Domenique D DD; Eijkemans, Marinus J C MJC; van der Ent, Cornelis K CK; Beekman, Jeffrey M JM

Publication Date: 2022-08

Variant appearance in text: CFTR: 2908G>C; G970R

PubMed Link: 35086832

Variant Present in the following documents:

• ERJ-00508-2021.Supplement.pdf

View BVdb publication page

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Burden of cystic fibrosis in children <12 years of age prior to the introduction of CFTR modulator therapies.

Bmj Open Respiratory Research

Bresnick, Kathryn K; Arteaga-Solis, Emilio E; Millar, Stefanie J SJ; Laird, Glen G; LeCamus, Cecile C

Publication Date: 2021-12

Variant appearance in text: CFTR: G970R

PubMed Link: 34857524

Variant Present in the following documents:

• bmjresp-2021-000998supp001.pdf

View BVdb publication page

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Burden of cystic fibrosis in children <12 years of age prior to the introduction of CFTR modulator therapies.

Bmj Open Respiratory Research

Bresnick, Kathryn K; Arteaga-Solis, Emilio E; Millar, Stefanie J SJ; Laird, Glen G; LeCamus, Cecile C

Publication Date: 2021-12

Variant appearance in text: CFTR: G970R

PubMed Link: 34857524

Variant Present in the following documents:

• bmjresp-2021-000998supp001.pdf

View BVdb publication page

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Frequency of allele variations in the CFTR gene in a Mexican population.

Bmc Medical Genomics

Cantú-Reyna, Consuelo C; Galindo-Ramírez, Roberto R; Vázquez-Cantú, Mercedes M; Haddad-Talancón, Lorenza L; García-Muñoz, Willebaldo W

Publication Date: 2021-11-05

Variant appearance in text: rs397508453

PubMed Link: 34740355

Variant Present in the following documents:

• 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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On the Corner of Models and Cure: Gene Editing in Cystic Fibrosis.

Frontiers In Pharmacology

Ensinck, Marjolein M; Mottais, Angélique A; Detry, Claire C; Leal, Teresinha T; Carlon, Marianne S MS

Publication Date: 2021

Variant appearance in text: CFTR: 2908G>C; G970R

PubMed Link: 33986686

Variant Present in the following documents:

• Main text

View BVdb publication page

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Treatment of Pulmonary Disease of Cystic Fibrosis: A Comprehensive Review.

Antibiotics (Basel, Switzerland)

Girón Moreno, Rosa María RM; García-Clemente, Marta M; Diab-Cáceres, Layla L; Martínez-Vergara, Adrián A; Martínez-García, Miguel Ángel MÁ; Gómez-Punter, Rosa Mar RM

Publication Date: 2021-04-23

Variant appearance in text: CFTR: G970R

PubMed Link: 33922413

Variant Present in the following documents:

• Main text

View BVdb publication page

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Ex vivo model predicted in vivo efficacy of CFTR modulator therapy in a child with rare genotype.

Molecular Genetics & Genomic Medicine

Terlizzi, Vito V; Amato, Felice F; Castellani, Chiara C; Ferrari, Beatrice B; Galietta, Luis J V LJV; Castaldo, Giuseppe G; Taccetti, Giovanni G

Publication Date: 2021-04

Variant appearance in text: CFTR: 2908G>C; Gly970Arg

PubMed Link: 33713579

Variant Present in the following documents:

• Main text
• MGG3-9-e1656.pdf

View BVdb publication page

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G970R-CFTR Mutation (c.2908G>C) Results Predominantly in a Splicing Defect.

Clinical And Translational Science

Fidler, Meredith C MC; Buckley, Alexandra A; Sullivan, James C JC; Statia, Marvin M; Boj, Sylvia F SF; Vries, Robert G J RGJ; Munck, Anne A; Higgins, Mark M; Moretto Zita, Matteo M; Negulescu, Paul P; van Goor, Fredrick F; De Boeck, Kris K

Publication Date: 2021-03

Variant appearance in text: CFTR: 2908G>C; G970R

PubMed Link: 33278322

Variant Present in the following documents:

• Main text
• CTS-14-656.pdf

View BVdb publication page

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Ivacaftor in People with Cystic Fibrosis and a 3849+10kb C→T or D1152H Residual Function Mutation.

Annals Of The American Thoracic Society

Kerem, Eitan E; Cohen-Cymberknoh, Malena M; Tsabari, Reuven R; Wilschanski, Michael M; Reiter, Joel J; Shoseyov, David D; Gileles-Hillel, Alex A; Pugatsch, Thea T; Davies, Jane C JC; Short, Christopher C; Saunders, Clare C; DeSouza, Cynthia C; Sullivan, James C JC; Doyle, Jamie R JR; Chandarana, Keval K; Kinnman, Nils N

Publication Date: 2021-03

Variant appearance in text: CFTR: G970R

PubMed Link: 33095038

Variant Present in the following documents:

• AnnalsATS.202006-659OC.pdf

View BVdb publication page

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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.

Plos Genetics

Joynt, Anya T AT; Evans, Taylor A TA; Pellicore, Matthew J MJ; Davis-Marcisak, Emily F EF; Aksit, Melis A MA; Eastman, Alice C AC; Patel, Shivani U SU; Paul, Kathleen C KC; Osorio, Derek L DL; Bowling, Alyssa D AD; Cotton, Calvin U CU; Raraigh, Karen S KS; West, Natalie E NE; Merlo, Christian A CA; Cutting, Garry R GR; Sharma, Neeraj N

Publication Date: 2020-10

Variant appearance in text: CFTR: 2908G>C; G970R

PubMed Link: 33085659

Variant Present in the following documents:

• Main text

View BVdb publication page

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Fluorescence assay for simultaneous quantification of CFTR ion-channel function and plasma membrane proximity.

The Journal Of Biological Chemistry

Prins, Stella S; Langron, Emily E; Hastings, Cato C; Hill, Emily J EJ; Stefan, Andra C AC; Griffin, Lewis D LD; Vergani, Paola P

Publication Date: 2020-12-04

Variant appearance in text: CFTR: G970R

PubMed Link: 32934006

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges.

Genes

Bienvenu, Thierry T; Lopez, Maureen M; Girodon, Emmanuelle E

Publication Date: 2020-06-04

Variant appearance in text: CFTR: 2908G>C; G970R

PubMed Link: 32512765

Variant Present in the following documents:

• Main text
• genes-11-00619.pdf

View BVdb publication page

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Clinical, genetic and microbiological characterization of pediatric patients with cystic fibrosis in a public Hospital in Ecuador.

Bmc Pediatrics

Lascano-Vaca, Yazmina Y; Ortiz-Prado, Esteban E; Gomez-Barreno, Lenin L; Simbaña-Rivera, Katherine K; Vasconez, Eduardo E; Lister, Alexander A; Arteaga-Espinosa, María Emilia ME; Perez, Geovanny F GF

Publication Date: 2020-03-06

Variant appearance in text: rs397508453

PubMed Link: 32143663

Variant Present in the following documents:

• Main text

View BVdb publication page

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Ivacaftor for the Treatment of Cystic Fibrosis Coexisting with Trisomy 21: A Case Report.

Cureus

Charbek, Edward E; Kamel, Ghassan G; Nayak, Ravi P RP

Publication Date: 2019-11-18

Variant appearance in text: CFTR: G970R

PubMed Link: 31890385

Variant Present in the following documents:

• Main text
• cureus-0011-00000006179.pdf

View BVdb publication page

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: CFTR: 2908G>C; G970R

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

View BVdb publication page

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Medical interventions for chronic rhinosinusitis in cystic fibrosis.

The Cochrane Database Of Systematic Reviews

Karanth, Tulasi Kota TK; Karanth, Veena Kota Laxminarayan Kl VKLK; Ward, Bryan K BK; Woodworth, Bradford A BA; Karanth, Laxminarayan L

Publication Date: 2019-10-23

Variant appearance in text: CFTR: G970R

PubMed Link: 31642064

Variant Present in the following documents:

• Main text

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: CFTR: 2908G>C; G970R

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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An open-label extension study of ivacaftor in children with CF and a CFTR gating mutation initiating treatment at age 2-5 years (KLIMB).

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society

Rosenfeld, Margaret M; Cunningham, Steve S; Harris, William T WT; Lapey, Allen A; Regelmann, Warren E WE; Sawicki, Gregory S GS; Southern, Kevin W KW; Chilvers, Mark M; Higgins, Mark M; Tian, Simon S; Cooke, Jon J; Davies, Jane C JC; ,

Publication Date: 2019-11

Variant appearance in text: CFTR: G970R

PubMed Link: 31053538

Variant Present in the following documents:

• Main text

View BVdb publication page

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Emerging Therapeutic Approaches for Cystic Fibrosis. From Gene Editing to Personalized Medicine.

Frontiers In Pharmacology

Pranke, Iwona I; Golec, Anita A; Hinzpeter, Alexandre A; Edelman, Aleksander A; Sermet-Gaudelus, Isabelle I

Publication Date: 2019

Variant appearance in text: CFTR: G970R

PubMed Link: 30873022

Variant Present in the following documents:

• Main text
• fphar-10-00121.pdf

View BVdb publication page

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ATP-Binding Cassette Transporters in the Clinical Implementation of Pharmacogenetics.

Journal Of Personalized Medicine

López-Fernández, Luis A LA

Publication Date: 2018-12-05

Variant appearance in text: CFTR: Gly970Arg; rs397508453

PubMed Link: 30563187

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular structure of the ATP-bound, phosphorylated human CFTR.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Zhang, Zhe Z; Liu, Fangyu F; Chen, Jue J

Publication Date: 2018-12-11

Variant appearance in text: CFTR: G970R

PubMed Link: 30459277

Variant Present in the following documents:

• Main text
• pnas.201815287.pdf

View BVdb publication page

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Bridging Genomics to Phenomics at Atomic Resolution through Variation Spatial Profiling.

Cell Reports

Wang, Chao C; Balch, William E WE

Publication Date: 2018-08-21

Variant appearance in text: CFTR: G970R

PubMed Link: 30134164

Variant Present in the following documents:

• Main text
• nihms-986613.pdf
• NIHMS986613-supplement-1.pdf

View BVdb publication page

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CFTR modulator theratyping: Current status, gaps and future directions.

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society

Clancy, John Paul JP; Cotton, Calvin U CU; Donaldson, Scott H SH; Solomon, George M GM; VanDevanter, Donald R DR; Boyle, Michael P MP; Gentzsch, Martina M; Nick, Jerry A JA; Illek, Beate B; Wallenburg, John C JC; Sorscher, Eric J EJ; Amaral, Margarida D MD; Beekman, Jeffrey M JM; Naren, Anjaparavanda P AP; Bridges, Robert J RJ; Thomas, Philip J PJ; Cutting, Garry G; Rowe, Steven S; Durmowicz, Anthony G AG; Mense, Martin M; Boeck, Kris D KD; Skach, William W; Penland, Christopher C; Joseloff, Elizabeth E; Bihler, Hermann H; Mahoney, John J; Borowitz, Drucy D; Tuggle, Katherine L KL

Publication Date: 2019-01

Variant appearance in text: CFTR: G970R

PubMed Link: 29934203

Variant Present in the following documents:

• Main text

View BVdb publication page

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Effectiveness of ivacaftor in cystic fibrosis patients with non-G551D gating mutations.

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society

Guimbellot, Jennifer J; Solomon, George M GM; Baines, Arthur A; Heltshe, Sonya L SL; VanDalfsen, Jill J; Joseloff, Elizabeth E; Sagel, Scott D SD; Rowe, Steven M SM; ,

Publication Date: 2019-01

Variant appearance in text: CFTR: G970R

PubMed Link: 29685811

Variant Present in the following documents:

• Main text

View BVdb publication page

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Personalized medicine in CF: from modulator development to therapy for cystic fibrosis patients with rare CFTR mutations.

American Journal Of Physiology. Lung Cellular And Molecular Physiology

Harutyunyan, Misak M; Huang, Yunjie Y; Mun, Kyu-Shik KS; Yang, Fanmuyi F; Arora, Kavisha K; Naren, Anjaparavanda P AP

Publication Date: 2018-04-01

Variant appearance in text: CFTR: G970R

PubMed Link: 29351449

Variant Present in the following documents:

• Main text

View BVdb publication page

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Using Genome Sequence to Enable the Design of Medicines and Chemical Probes.

Chemical Reviews

Angelbello, Alicia J AJ; Chen, Jonathan L JL; Childs-Disney, Jessica L JL; Zhang, Peiyuan P; Wang, Zi-Fu ZF; Disney, Matthew D MD

Publication Date: 2018-02-28

Variant appearance in text: CFTR: G970R

PubMed Link: 29322778

Variant Present in the following documents:

• Main text

View BVdb publication page

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The population genetics of human disease: The case of recessive, lethal mutations.

Plos Genetics

Amorim, Carlos Eduardo G CEG; Gao, Ziyue Z; Baker, Zachary Z; Diesel, José Francisco JF; Simons, Yuval B YB; Haque, Imran S IS; Pickrell, Joseph J; Przeworski, Molly M

Publication Date: 2017-09

Variant appearance in text: CFTR: 2908G>C; Gly970Arg; rs397508453

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

View BVdb publication page

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Toward inclusive therapy with CFTR modulators: Progress and challenges.

Pediatric Pulmonology

Guimbellot, Jennifer J; Sharma, Jyoti J; Rowe, Steven M SM

Publication Date: 2017-11

Variant appearance in text: CFTR: G970R

PubMed Link: 28881097

Variant Present in the following documents:

• Main text

View BVdb publication page

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Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.

American Journal Of Human Genetics

Lee, Melissa M; Roos, Patrick P; Sharma, Neeraj N; Atalar, Melis M; Evans, Taylor A TA; Pellicore, Matthew J MJ; Davis, Emily E; Lam, Anh-Thu N AN; Stanley, Susan E SE; Khalil, Sara E SE; Solomon, George M GM; Walker, Doug D; Raraigh, Karen S KS; Vecchio-Pagan, Briana B; Armanios, Mary M; Cutting, Garry R GR

Publication Date: 2017-05-04

Variant appearance in text: CFTR: 2908G>C; Gly970Arg

PubMed Link: 28475858

Variant Present in the following documents:

• Main text

View BVdb publication page

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CFTR Modulator Therapies in Pediatric Cystic Fibrosis: Focus on Ivacaftor.

Expert Opinion On Orphan Drugs

Kramer, Elizabeth L EL; Clancy, John P JP

Publication Date: 2016-10

Variant appearance in text: CFTR: G970R

PubMed Link: 28042521

Variant Present in the following documents:

• Main text

View BVdb publication page

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Paediatrics: messages from Munich.

Erj Open Research

Midulla, Fabio F; Lombardi, Enrico E; Pijnenburg, Marielle M; Balfour-Lynn, Ian M IM; Grigg, Jonathan J; Bohlin, Kajsa K; Rusconi, Franca F; Pohunek, Petr P; Eber, Ernst E

Publication Date: 2015-05

Variant appearance in text: CFTR: Gly970Arg

PubMed Link: 27730136

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis: current perspectives.

Clinical Pharmacology : Advances And Applications

Schmidt, Béla Z BZ; Haaf, Jérémy B JB; Leal, Teresinha T; Noel, Sabrina S

Publication Date: 2016

Variant appearance in text: CFTR: G970R

PubMed Link: 27703398

Variant Present in the following documents:

• Main text

View BVdb publication page

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CFTR Modulators: Shedding Light on Precision Medicine for Cystic Fibrosis.

Frontiers In Pharmacology

Lopes-Pacheco, Miquéias M

Publication Date: 2016

Variant appearance in text: CFTR: G970R

PubMed Link: 27656143

Variant Present in the following documents:

• Main text
• fphar-07-00275.pdf

View BVdb publication page

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New Therapeutic Approaches to Modulate and Correct Cystic Fibrosis Transmembrane Conductance Regulator.

Pediatric Clinics Of North America

Ong, Thida T; Ramsey, Bonnie W BW

Publication Date: 2016-08

Variant appearance in text: CFTR: G970R

PubMed Link: 27469186

Variant Present in the following documents:

• Main text

View BVdb publication page

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Lumacaftor/ivacaftor combination for cystic fibrosis patients homozygous for Phe508del-CFTR.

Drugs Of Today (Barcelona, Spain : 1998)

Zhang, W W; Zhang, X X; Zhang, Y H YH; Strokes, D C DC; Naren, A P AP

Publication Date: 2016-04

Variant appearance in text: CFTR: Gly970Arg

PubMed Link: 27252987

Variant Present in the following documents:

• Main text

View BVdb publication page

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New and emerging targeted therapies for cystic fibrosis.

Bmj (Clinical Research Ed.)

Quon, Bradley S BS; Rowe, Steven M SM

Publication Date: 2016-03-30

Variant appearance in text: CFTR: G970R

PubMed Link: 27030675

Variant Present in the following documents:

• Main text

View BVdb publication page

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Safety, pharmacokinetics, and pharmacodynamics of ivacaftor in patients aged 2-5 years with cystic fibrosis and a CFTR gating mutation (KIWI): an open-label, single-arm study.

The Lancet. Respiratory Medicine

Davies, Jane C JC; Cunningham, Steve S; Harris, William T WT; Lapey, Allen A; Regelmann, Warren E WE; Sawicki, Gregory S GS; Southern, Kevin W KW; Robertson, Sarah S; Green, Yulia Y; Cooke, Jon J; Rosenfeld, Margaret M; ,

Publication Date: 2016-02

Variant appearance in text: CFTR: Gly970Arg

PubMed Link: 26803277

Variant Present in the following documents:

• Main text

View BVdb publication page

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Current Progress in Therapeutic Gene Editing for Monogenic Diseases.

Molecular Therapy : The Journal Of The American Society Of Gene Therapy

Prakash, Versha V; Moore, Marc M; Yáñez-Muñoz, Rafael J RJ

Publication Date: 2016-03

Variant appearance in text: CFTR: G970R

PubMed Link: 26765770

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeted therapies to improve CFTR function in cystic fibrosis.

Genome Medicine

Brodlie, Malcolm M; Haq, Iram J IJ; Roberts, Katie K; Elborn, J Stuart JS

Publication Date: 2015-09-24

Variant appearance in text: CFTR: Gly970Arg

PubMed Link: 26403534

Variant Present in the following documents:

• Main text

View BVdb publication page

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A new era of personalized medicine for cystic fibrosis - at last!

Canadian Respiratory Journal

Quon, Bradley S BS; Wilcox, Pearce G PG

Publication Date: 2015

Variant appearance in text: CFTR: G970R

PubMed Link: 26083544

Variant Present in the following documents:

• Main text

View BVdb publication page

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The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.

European Journal Of Human Genetics : Ejhg

Girardet, Anne A; Viart, Victoria V; Plaza, Stéphanie S; Daina, Gemma G; De Rycke, Martine M; Des Georges, Marie M; Fiorentino, Francesco F; Harton, Gary G; Ishmukhametova, Aliya A; Navarro, Joaquima J; Raynal, Caroline C; Renwick, Pamela P; Saguet, Florielle F; Schwarz, Martin M; SenGupta, Sioban S; Tzetis, Maria M; Roux, Anne-Françoise AF; Claustres, Mireille M

Publication Date: 2016-04

Variant appearance in text: CFTR: 2908G>C; G970R

PubMed Link: 26014425

Variant Present in the following documents:

• Main text

View BVdb publication page

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Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Baker, Mei W MW; Atkins, Anne E AE; Cordovado, Suzanne K SK; Hendrix, Miyono M; Earley, Marie C MC; Farrell, Philip M PM

Publication Date: 2016-03

Variant appearance in text: CFTR: 2908G>C; G970R

PubMed Link: 25674778

Variant Present in the following documents:

• Main text

View BVdb publication page

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Effect of genistein on basal jejunal chloride secretion in R117H CF mice is sex and route specific.

Clinical And Experimental Gastroenterology

Rayyan, Esa E; Polito, Sarah S; Leung, Lana L; Bhakta, Ashesh A; Kang, Jonathan J; Willey, Justin J; Mansour, Wasim W; Drumm, Mitchell L ML; Al-Nakkash, Layla L

Publication Date: 2015

Variant appearance in text: CFTR: G970R

PubMed Link: 25674010

Variant Present in the following documents:

• Main text
• ceg-8-077.pdf

View BVdb publication page

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CFTR Modulators for the Treatment of Cystic Fibrosis.

P & T : A Peer-Reviewed Journal For Formulary Management

Pettit, Rebecca S RS; Fellner, Chris C

Publication Date: 2014-07

Variant appearance in text: CFTR: G970R

PubMed Link: 25083129

Variant Present in the following documents:

• Main text

View BVdb publication page

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

Nature Genetics

Sosnay, Patrick R PR; Siklosi, Karen R KR; Van Goor, Fredrick F; Kaniecki, Kyle K; Yu, Haihui H; Sharma, Neeraj N; Ramalho, Anabela S AS; Amaral, Margarida D MD; Dorfman, Ruslan R; Zielenski, Julian J; Masica, David L DL; Karchin, Rachel R; Millen, Linda L; Thomas, Philip J PJ; Patrinos, George P GP; Corey, Mary M; Lewis, Michelle H MH; Rommens, Johanna M JM; Castellani, Carlo C; Penland, Christopher M CM; Cutting, Garry R GR

Publication Date: 2013-10

Variant appearance in text: CFTR: 2908G>C; G970R

PubMed Link: 23974870

Variant Present in the following documents:

• NIHMS512446-supplement-12.xlsx, sheet 1

View BVdb publication page

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Role of the juxtamembrane region of cytoplasmic loop 3 in the gating and conductance of the cystic fibrosis transmembrane conductance regulator chloride channel.

Biochemistry

El Hiani, Yassine Y; Linsdell, Paul P

Publication Date: 2012-05-15

Variant appearance in text: CFTR: G970R

PubMed Link: 22545782

Variant Present in the following documents:

• Main text
• bi300065z.pdf

View BVdb publication page

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