Publications:

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Dry Powder Inhalation for Lung Delivery in Cystic Fibrosis.

Pharmaceutics

Han, Xiaoxuan X; Li, Danni D; Reyes-Ortega, Felisa F; Schneider-Futschik, Elena K EK

Publication Date: 2023-05-13

Variant appearance in text: CFTR: S1255P

PubMed Link: 37242730

Variant Present in the following documents:

• Main text
• pharmaceutics-15-01488.pdf

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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: 3763T>C; Ser1255Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis.

Children (Basel, Switzerland)

Conti, Jessica J; Sorio, Claudio C; Melotti, Paola P

Publication Date: 2022-12-20

Variant appearance in text: CFTR: S1255P

PubMed Link: 36670555

Variant Present in the following documents:

• children-10-00004.pdf

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Role of inhaled antibiotics in the era of highly effective CFTR modulators.

European Respiratory Review : An Official Journal Of The European Respiratory Society

Elborn, J Stuart JS; Blasi, Francesco F; Burgel, Pierre-Régis PR; Peckham, Daniel D

Publication Date: 2023-03-31

Variant appearance in text: CFTR: S1255P

PubMed Link: 36631132

Variant Present in the following documents:

• Main text
• ERR-0154-2022.pdf

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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: S1255P

PubMed Link: 35832587

Variant Present in the following documents:

• Main text
• fped-10-914790.pdf

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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: 3763T>C; S1255P

PubMed Link: 35740997

Variant Present in the following documents:

• Main text
• cells-11-01868.pdf

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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: S1255P

PubMed Link: 35681464

Variant Present in the following documents:

• cells-11-01769.pdf

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New drugs in cystic fibrosis: what has changed in the last decade?

Therapeutic Advances In Chronic Disease

Roda, Juliana J; Pinto-Silva, Catarina C; Silva, Iris A I IAI; Maia, Carla C; Almeida, Susana S; Ferreira, Ricardo R; Oliveira, Guiomar G

Publication Date: 2022

Variant appearance in text: CFTR: S1255P

PubMed Link: 35620188

Variant Present in the following documents:

• Main text
• 10.1177_20406223221098136.pdf

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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: S1255P

PubMed Link: 35585144

Variant Present in the following documents:

• 42003_2022_3457_MOESM1_ESM.pdf

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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: S1255P

PubMed Link: 35525974

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2350.pdf

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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: S1255P

PubMed Link: 35406809

Variant Present in the following documents:

• cells-11-01243.pdf

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A Comparative Analysis of Pricing and Reimbursement of Cystic Fibrosis Transmembrane Conductance Regulator Modulators in Europe.

Frontiers In Pharmacology

Abdallah, Khadidja K; De Boeck, Kris K; Dooms, Marc M; Simoens, Steven S

Publication Date: 2021

Variant appearance in text: CFTR: S1255P

PubMed Link: 34858177

Variant Present in the following documents:

• fphar-12-746710.pdf

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The determinants of survival among adults with cystic fibrosis-a cohort study.

Journal Of Physiological Anthropology

Durda-Masny, Magdalena M; Goździk-Spychalska, Joanna J; John, Aleksandra A; Czaiński, Wojciech W; Stróżewska, Weronika W; Pawłowska, Natalia N; Wlizło, Jolanta J; Batura-Gabryel, Halina H; Szwed, Anita A

Publication Date: 2021-11-08

Variant appearance in text: CFTR: S1255P

PubMed Link: 34749804

Variant Present in the following documents:

• Main text

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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: rs121909041

PubMed Link: 34740355

Variant Present in the following documents:

• 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1

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State of the Art on Approved Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Modulators and Triple-Combination Therapy.

Pharmaceuticals (Basel, Switzerland)

Meoli, Aniello A; Fainardi, Valentina V; Deolmi, Michela M; Chiopris, Giulia G; Marinelli, Francesca F; Caminiti, Caterina C; Esposito, Susanna S; Pisi, Giovanna G

Publication Date: 2021-09-15

Variant appearance in text: CFTR: S1255P

PubMed Link: 34577628

Variant Present in the following documents:

• Main text
• pharmaceuticals-14-00928.pdf

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Projecting the impact of triple CFTR modulator therapy on intravenous antibiotic requirements in cystic fibrosis using patient registry data combined with treatment effects from randomised trials.

Thorax

Keogh, Ruth H RH; Cosgriff, Rebecca R; Andrinopoulou, Eleni-Rosalina ER; Brownlee, Keith G KG; Carr, Siobhán B SB; Diaz-Ordaz, Karla K; Granger, Emily E; Jewell, Nicholas P NP; Lewin, Alex A; Leyrat, Clemence C; Schlüter, Daniela K DK; van Smeden, Maarten M; Szczesniak, Rhonda D RD; Connett, Gary J GJ

Publication Date: 2022-09

Variant appearance in text: CFTR: S1255P

PubMed Link: 34556554

Variant Present in the following documents:

• thoraxjnl-2020-216265supp001.pdf

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Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)

Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI

Publication Date: 2020

Variant appearance in text: rs121909041

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 4

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Efficacy of computational predictions of the functional effect of idiosyncratic pharmacogenetic variants.

Peerj

McConnell, Hannah H; Andrews, T Daniel TD; Field, Matt A MA

Publication Date: 2021

Variant appearance in text: rs121909041

PubMed Link: 34316407

Variant Present in the following documents:

• Main text

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Anti-Inflammatory Influences of Cystic Fibrosis Transmembrane Conductance Regulator Drugs on Lung Inflammation in Cystic Fibrosis.

International Journal Of Molecular Sciences

Harwood, Kiera H KH; McQuade, Rachel M RM; Jarnicki, Andrew A; Schneider-Futschik, Elena K EK

Publication Date: 2021-07-16

Variant appearance in text: CFTR: S1255P

PubMed Link: 34299226

Variant Present in the following documents:

• Main text
• ijms-22-07606.pdf

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Cystic Fibrosis Human Organs-on-a-Chip.

Micromachines

Ogden, Herbert Luke HL; Kim, Hoyeol H; Wikenheiser-Brokamp, Kathryn A KA; Naren, Anjaparavanda P AP; Mun, Kyu Shik KS

Publication Date: 2021-06-25

Variant appearance in text: CFTR: S1255P

PubMed Link: 34202364

Variant Present in the following documents:

• Main text
• micromachines-12-00747.pdf

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New Therapies to Correct the Cystic Fibrosis Basic Defect.

International Journal Of Molecular Sciences

Bergeron, Christelle C; Cantin, André M AM

Publication Date: 2021-06-08

Variant appearance in text: CFTR: S1255P

PubMed Link: 34201249

Variant Present in the following documents:

• Main text

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Real-World Long-Term Ivacaftor for Cystic Fibrosis in France: Clinical Effectiveness and Healthcare Resource Utilization.

Pulmonary Therapy

Hubert, Dominique D; Marguet, Christophe C; Benichou, Jacques J; DeSouza, Cynthia C; Payen-Champenois, Catherine C; Kinnman, Nils N; Chandarana, Keval K; Munck, Anne A; Fajac, Isabelle I; ,

Publication Date: 2021-12

Variant appearance in text: CFTR: S1255P

PubMed Link: 34101145

Variant Present in the following documents:

• Main text
• 41030_2021_Article_158.pdf

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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: S1255P

PubMed Link: 33922413

Variant Present in the following documents:

• Main text

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Identification of Potential Leukocyte Biomarkers Related to Drug Recovery of CFTR: Clinical Applications in Cystic Fibrosis.

International Journal Of Molecular Sciences

Pedrazzi, Marco M; Vercellone, Silvia S; Barberis, Elettra E; Capraro, Michela M; De Tullio, Roberta R; Cresta, Federico F; Casciaro, Rosaria R; Castellani, Carlo C; Patrone, Mauro M; Marengo, Emilio E; Lecca, Paola P; Melotti, Paola P; Sorio, Claudio C; Manfredi, Marcello M; Averna, Monica M

Publication Date: 2021-04-10

Variant appearance in text: CFTR: S1255P

PubMed Link: 33920274

Variant Present in the following documents:

• Main text

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Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.

Plos Genetics

Yu, Mullin Ho Chung MHC; Chan, Marcus Chun Yin MCY; Chung, Claudia Ching Yan CCY; Li, Andrew Wang Tat AWT; Yip, Chara Yin Wa CYW; Mak, Christopher Chun Yu CCY; Chau, Jeffrey Fong Ting JFT; Lee, Mianne M; Fung, Jasmine Lee Fong JLF; Tsang, Mandy Ho Yin MHY; Chan, Joshua Chun Ki JCK; Wong, Wilfred Hing Sang WHS; Yang, Jing J; Chui, William Chun Ming WCM; Chung, Patrick Ho Yu PHY; Yang, Wanling W; Lee, So Lun SL; Chan, Godfrey Chi Fung GCF; Tam, Paul Kwong Hang PKH; Lau, Yu Lung YL; Tang, Clara Sze Man CSM; Yeung, Kit San KS; Chung, Brian Hon Yin BHY

Publication Date: 2021-02

Variant appearance in text: CFTR: 3763T>C; rs121909041

PubMed Link: 33600428

Variant Present in the following documents:

• pgen.1009323.s003.xlsx, sheet 1

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New Therapeutic Approaches in Cystic Fibrosis.

Turkish Journal Of Pharmaceutical Sciences

Fakıoğlu, Dolunay Merve DM; Altun, Beril B

Publication Date: 2020-12-23

Variant appearance in text: CFTR: S1255P

PubMed Link: 33389985

Variant Present in the following documents:

• Main text

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Corrector therapies (with or without potentiators) for people with cystic fibrosis with class II CFTR gene variants (most commonly F508del).

The Cochrane Database Of Systematic Reviews

Southern, Kevin W KW; Murphy, Jared J; Sinha, Ian P IP; Nevitt, Sarah J SJ

Publication Date: 2020-12-17

Variant appearance in text: CFTR: S1255P

PubMed Link: 33331662

Variant Present in the following documents:

• Main text

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Novel therapeutic approaches for the management of cystic fibrosis.

Multidisciplinary Respiratory Medicine

Jaques, Ryan R; Shakeel, Arslan A; Hoyle, Cameron C

Publication Date: 2020-01-28

Variant appearance in text: CFTR: S1255P

PubMed Link: 33282281

Variant Present in the following documents:

• Main text
• mrm-15-1-690.pdf

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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: S1255P

PubMed Link: 33278322

Variant Present in the following documents:

• Main text

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Current Treatment Options for Cystic Fibrosis-Related Liver Disease.

International Journal Of Molecular Sciences

Staufer, Katharina K

Publication Date: 2020-11-14

Variant appearance in text: CFTR: S1255P

PubMed Link: 33202578

Variant Present in the following documents:

• Main text
• ijms-21-08586.pdf

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Ivacaftor in Infants Aged 4 to <12 Months with Cystic Fibrosis and a Gating Mutation. Results of a Two-Part Phase 3 Clinical Trial.

American Journal Of Respiratory And Critical Care Medicine

Davies, Jane C JC; Wainwright, Claire E CE; Sawicki, Gregory S GS; Higgins, Mark N MN; Campbell, Daniel D; Harris, Christopher C; Panorchan, Paul P; Haseltine, Eric E; Tian, Simon S; Rosenfeld, Margaret M

Publication Date: 2021-03-01

Variant appearance in text: CFTR: S1255P

PubMed Link: 33023304

Variant Present in the following documents:

• Main text

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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: S1255P

PubMed Link: 32934006

Variant Present in the following documents:

• mmc1.pdf

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: CFTR: 3763T>C; Ser1255Pro

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

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Pharmacogenetics: An Important Part of Drug Development with A Focus on Its Application.

International Journal Of Biomedical Investigation

Oates, J T JT; Lopez, D D

Publication Date: 2018

Variant appearance in text: CFTR: S1255P

PubMed Link: 32467882

Variant Present in the following documents:

• Main text
• nihms-1581346.pdf

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Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.

Genes

Petrova, Nika V NV; Kashirskaya, Nataliya Y NY; Vasilyeva, Tatyana A TA; Kondratyeva, Elena I EI; Zhekaite, Elena K EK; Voronkova, Anna Y AY; Sherman, Victoria D VD; Galkina, Varvara A VA; Ginter, Eugeny K EK; Kutsev, Sergey I SI; Marakhonov, Andrey V AV; Zinchenko, Rena A RA

Publication Date: 2020-05-15

Variant appearance in text: CFTR: 3763T>C

PubMed Link: 32429104

Variant Present in the following documents:

• Main text

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Transcriptomic and Proteostasis Networks of CFTR and the Development of Small Molecule Modulators for the Treatment of Cystic Fibrosis Lung Disease.

Genes

Strub, Matthew D MD; McCray, Paul B PB

Publication Date: 2020-05-13

Variant appearance in text: CFTR: S1255P

PubMed Link: 32414011

Variant Present in the following documents:

• Main text

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.

Emc. Pediatria

Noël, S S; Sermet-Gaudelus, I I

Publication Date: 2020-03

Variant appearance in text: CFTR: S1255P

PubMed Link: 32288518

Variant Present in the following documents:

• main.pdf

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Emerging Cystic Fibrosis Transmembrane Conductance Regulator Modulators as New Drugs for Cystic Fibrosis: A Portrait of in Vitro Pharmacology and Clinical Translation.

Acs Pharmacology & Translational Science

Ghelani, Drishti P DP; Schneider-Futschik, Elena K EK

Publication Date: 2020-02-14

Variant appearance in text: CFTR: S1255P

PubMed Link: 32259083

Variant Present in the following documents:

• Main text

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CFTR Modulators: The Changing Face of Cystic Fibrosis in the Era of Precision Medicine.

Frontiers In Pharmacology

Lopes-Pacheco, Miquéias M

Publication Date: 2019

Variant appearance in text: CFTR: S1255P

PubMed Link: 32153386

Variant Present in the following documents:

• Main text

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Cost of precision medicine at a referral center for cystic fibrosis.

Jornal Brasileiro De Pneumologia : Publicacao Oficial Da Sociedade Brasileira De Pneumologia E Tisilogia

Marson, Fernando Augusto Lima FAL

Publication Date: 2020-03-02

Variant appearance in text: CFTR: S1255P

PubMed Link: 32130336

Variant Present in the following documents:

• Main text
• 1806-3713-jbpneu-46-02-e20190308.pdf

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Nanomedicine Approaches for the Pulmonary Treatment of Cystic Fibrosis.

Frontiers In Bioengineering And Biotechnology

Velino, Cecilia C; Carella, Francesca F; Adamiano, Alessio A; Sanguinetti, Maurizio M; Vitali, Alberto A; Catalucci, Daniele D; Bugli, Francesca F; Iafisco, Michele M

Publication Date: 2019

Variant appearance in text: CFTR: S1255P

PubMed Link: 31921811

Variant Present in the following documents:

• Main text

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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: S1255P

PubMed Link: 31890385

Variant Present in the following documents:

• Main text

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Reimbursement Status and Recommendations Related to Orphan Drugs in European Countries.

Frontiers In Pharmacology

Stawowczyk, Ewa E; Malinowski, Krzysztof Piotr KP; Kawalec, Paweł P; Bobiński, Rafał R; Siwiec, Jacek J; Panteli, Dimitra D; Eckhardt, Helene H; Simoens, Steven S; Agusti, Antònia A; Dooms, Marc M; Pilc, Andrzej A

Publication Date: 2019

Variant appearance in text: CFTR: S1255P

PubMed Link: 31827433

Variant Present in the following documents:

• Table_2.pdf

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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: 3763T>C; S1255P

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

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Cystic fibrosis precision therapeutics: Emerging considerations.

Pediatric Pulmonology

Joshi, Disha D; Ehrhardt, Annette A; Hong, Jeong S JS; Sorscher, Eric J EJ

Publication Date: 2019-11

Variant appearance in text: CFTR: S1255P

PubMed Link: 31715091

Variant Present in the following documents:

• Main text

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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: S1255P

PubMed Link: 31642064

Variant Present in the following documents:

• Main text

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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: 3763T>C; S1255P

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

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The effect of CFTR modulators on a cystic fibrosis patient presenting with recurrent pancreatitis in the absence of respiratory symptoms: a case report.

Bmc Gastroenterology

Johns, J Dixon JD; Rowe, Steven M SM

Publication Date: 2019-07-11

Variant appearance in text: CFTR: S1255P

PubMed Link: 31296159

Variant Present in the following documents:

• Main text

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Pharmacological analysis of CFTR variants of cystic fibrosis using stem cell-derived organoids.

Drug Discovery Today

Chen, Kevin G KG; Zhong, Pingyu P; Zheng, Wei W; Beekman, Jeffrey M JM

Publication Date: 2019-11

Variant appearance in text: CFTR: S1255P

PubMed Link: 31173911

Variant Present in the following documents:

• Main text

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Cystic fibrosis revisited.

Journal Of Postgraduate Medicine

Kulkarni, H H; Kansra, S S; Karande, S S

Publication Date: 2019

Variant appearance in text: CFTR: S1255P

PubMed Link: 31169132

Variant Present in the following documents:

• Main text

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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: S1255P

PubMed Link: 31053538

Variant Present in the following documents:

• Main text

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Comparing access to orphan medicinal products in Europe.

Orphanet Journal Of Rare Diseases

Zamora, Bernarda B; Maignen, Francois F; O'Neill, Phill P; Mestre-Ferrandiz, Jorge J; Garau, Martina M

Publication Date: 2019-05-03

Variant appearance in text: CFTR: S1255P

PubMed Link: 31053154

Variant Present in the following documents:

• 13023_2019_1078_MOESM1_ESM.xlsx, sheet 1

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Sequencing as a first-line methodology for cystic fibrosis carrier screening.

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

Beauchamp, Kyle A KA; Johansen Taber, Katherine A KA; Grauman, Peter V PV; Spurka, Lindsay L; Lim-Harashima, Jeraldine J; Svenson, Ashley A; Goldberg, James D JD; Muzzey, Dale D

Publication Date: 2019-11

Variant appearance in text: CFTR: 3763T>C; S1255P

PubMed Link: 31036917

Variant Present in the following documents:

• 41436_2019_525_MOESM3_ESM.xlsx, sheet 1

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Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests.

European Journal Of Human Genetics : Ejhg

Thauvin-Robinet, Christel C; Thevenon, Julien J; Nambot, Sophie S; Delanne, Julian J; Kuentz, Paul P; Bruel, Ange-Line AL; Chassagne, Aline A; Cretin, Elodie E; Pelissier, Aurore A; Peyron, Chritine C; Gautier, Elodie E; Lehalle, Daphné D; Jean-Marçais, Nolwenn N; Callier, Patrick P; Mosca-Boidron, Anne-Laure AL; Vitobello, Antonio A; Sorlin, Arthur A; Tran Mau-Them, Frédéric F; Philippe, Christophe C; Vabres, Pierre P; Demougeot, Laurent L; Poé, Charlotte C; Jouan, Thibaud T; Chevarin, Martin M; Lefebvre, Mathilde M; Bardou, Marc M; Tisserant, Emilie E; Luu, Maxime M; Binquet, Christine C; Deleuze, Jean-François JF; Verstuyft, Céline C; Duffourd, Yannis Y; Faivre, Laurence L

Publication Date: 2019-08

Variant appearance in text: rs121909041

PubMed Link: 31019283

Variant Present in the following documents:

• Main text

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Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico tools.

Scientific Reports

Pereira, Stéphanie Villa-Nova SV; Ribeiro, José Dirceu JD; Ribeiro, Antônio Fernando AF; Bertuzzo, Carmen Sílvia CS; Marson, Fernando Augusto Lima FAL

Publication Date: 2019-04-17

Variant appearance in text: CFTR: S1255P

PubMed Link: 30996306

Variant Present in the following documents:

• Main text
• 41598_2019_Article_42404.pdf

View BVdb publication page

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