Publications:

---

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: S549R

PubMed Link: 37242730

Variant Present in the following documents:

• Main text
• pharmaceutics-15-01488.pdf

View BVdb publication page

---

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: 1647T>A; Ser549Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

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: S549R

PubMed Link: 36670555

Variant Present in the following documents:

• children-10-00004.pdf

View BVdb publication page

---

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: S549R

PubMed Link: 36631132

Variant Present in the following documents:

• Main text
• ERR-0154-2022.pdf

View BVdb publication page

---

Molecular targets for cystic fibrosis and therapeutic potential of monoclonal antibodies.

Saudi Pharmaceutical Journal : Spj : The Official Publication Of The Saudi Pharmaceutical Society

Moni, Sivakumar S SS; Al Basheer, Asmaa A

Publication Date: 2022-12

Variant appearance in text: CFTR: 1647T>A; S549R

PubMed Link: 36601503

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

Drug treatment of cystic fibrosis.

Australian Prescriber

Bruorton, Matthew M; Goddard, Thomas T

Publication Date: 2022-10

Variant appearance in text: CFTR: S549R

PubMed Link: 36382177

Variant Present in the following documents:

• Main text
• austprescr-45-171.pdf

View BVdb publication page

---

Cystic fibrosis and jejunoileal atresia: A clinical case.

Clinical Case Reports

da Cunha, Sara Bernardes SB; Rasteiro, Cátia C; Silva, Manuela M; Dias, Mariana M; Araújo, Célia C; Ramalho, Carla C

Publication Date: 2022-08

Variant appearance in text: CFTR: S549R

PubMed Link: 35949411

Variant Present in the following documents:

• Main text
• CCR3-10-e05869.pdf

View BVdb publication page

---

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: S549R

PubMed Link: 35832587

Variant Present in the following documents:

• Main text
• fped-10-914790.pdf

View BVdb publication page

---

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: S549R

PubMed Link: 35525974

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2350.pdf

View BVdb publication page

---

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: S549R

PubMed Link: 35406809

Variant Present in the following documents:

• cells-11-01243.pdf

View BVdb publication page

---

Pathophysiology of Lung Disease and Wound Repair in Cystic Fibrosis.

Pathophysiology : The Official Journal Of The International Society For Pathophysiology

Conese, Massimo M; Di Gioia, Sante S

Publication Date: 2021-03-10

Variant appearance in text: CFTR: S549R

PubMed Link: 35366275

Variant Present in the following documents:

• pathophysiology-28-00011.pdf

View BVdb publication page

---

Precision Medicine Based on CFTR Genotype for People with Cystic Fibrosis.

Pharmacogenomics And Personalized Medicine

Haq, Iram I; Almulhem, Maryam M; Soars, Simone S; Poulton, David D; Brodlie, Malcolm M

Publication Date: 2022

Variant appearance in text: CFTR: S549R

PubMed Link: 35153502

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Npj Genomic Medicine

Rodriguez-Flores, Juan L JL; Messai-Badji, Radja R; Robay, Amal A; Temanni, Ramzi R; Syed, Najeeb N; Markovic, Monika M; Al-Khayat, Eiman E; Qafoud, Fatima F; Nawaz, Zafar Z; Badii, Ramin R; Al-Sarraj, Yasser Y; Mbarek, Hamdi H; Al-Muftah, Wadha W; Alvi, Muhammad M; Rostami, Mahboubeh R MR; Cruzado, Juan Carlos Martinez JCM; Mezey, Jason G JG; Shakaki, Alya Al AA; Malek, Joel A JA; Greenblatt, Matthew B MB; Fakhro, Khalid A KA; Machaca, Khaled K; Al-Nabet, Ajayeb A; Afifi, Nahla N; Brooks, Andrew A; Ismail, Said I SI; Althani, Asmaa A; Crystal, Ronald G RG

Publication Date: 2022-01-19

Variant appearance in text: CFTR: Ser549Arg; rs121909005

PubMed Link: 35046417

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Npj Genomic Medicine

Rodriguez-Flores, Juan L JL; Messai-Badji, Radja R; Robay, Amal A; Temanni, Ramzi R; Syed, Najeeb N; Markovic, Monika M; Al-Khayat, Eiman E; Qafoud, Fatima F; Nawaz, Zafar Z; Badii, Ramin R; Al-Sarraj, Yasser Y; Mbarek, Hamdi H; Al-Muftah, Wadha W; Alvi, Muhammad M; Rostami, Mahboubeh R MR; Cruzado, Juan Carlos Martinez JCM; Mezey, Jason G JG; Shakaki, Alya Al AA; Malek, Joel A JA; Greenblatt, Matthew B MB; Fakhro, Khalid A KA; Machaca, Khaled K; Al-Nabet, Ajayeb A; Afifi, Nahla N; Brooks, Andrew A; Ismail, Said I SI; Althani, Asmaa A; Crystal, Ronald G RG

Publication Date: 2022-01-19

Variant appearance in text: CFTR: Ser549Arg; rs121909005

PubMed Link: 35046417

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Rescue of Mutant CFTR Trafficking Defect by the Investigational Compound MCG1516A.

Cells

Lopes-Pacheco, Miquéias M; Bacalhau, Mafalda M; Ramalho, Sofia S SS; Silva, Iris A L IAL; Ferreira, Filipa C FC; Carlile, Graeme W GW; Thomas, David Y DY; Farinha, Carlos M CM; Hanrahan, John W JW; Amaral, Margarida D MD

Publication Date: 2022-01-01

Variant appearance in text: CFTR: S549R

PubMed Link: 35011698

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Rescue of Mutant CFTR Trafficking Defect by the Investigational Compound MCG1516A.

Cells

Lopes-Pacheco, Miquéias M; Bacalhau, Mafalda M; Ramalho, Sofia S SS; Silva, Iris A L IAL; Ferreira, Filipa C FC; Carlile, Graeme W GW; Thomas, David Y DY; Farinha, Carlos M CM; Hanrahan, John W JW; Amaral, Margarida D MD

Publication Date: 2022-01-01

Variant appearance in text: CFTR: S549R

PubMed Link: 35011698

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The role of modulators in cystic fibrosis related diabetes.

Journal Of Clinical & Translational Endocrinology

Merjaneh, Lina L; Hasan, Sana S; Kasim, Nader N; Ode, Katie Larson KL

Publication Date: 2022-03

Variant appearance in text: CFTR: Ser549Arg

PubMed Link: 34917484

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

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: N/A

PubMed Link: 34858177

Variant Present in the following documents:

View BVdb publication page

---

Cystic Fibrosis Transmembrane Conductance Regulator Folding Mutations Reveal Differences in Corrector Efficacy Linked to Increases in Immature Cystic Fibrosis Transmembrane Conductance Regulator Expression.

Frontiers In Physiology

Peters, Kathryn W KW; Gong, Xiaoyan X; Frizzell, Raymond A RA

Publication Date: 2021

Variant appearance in text: CFTR: S549R

PubMed Link: 34764878

Variant Present in the following documents:

• Main text
• fphys-12-695767.pdf
• Table_1.pdf

View BVdb publication page

---

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: S549R

PubMed Link: 34749804

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: rs121909005

PubMed Link: 34740355

Variant Present in the following documents:

• 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

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: S549R

PubMed Link: 34577628

Variant Present in the following documents:

• Main text
• pharmaceuticals-14-00928.pdf

View BVdb publication page

---

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: rs121909005

PubMed Link: 34541464

Variant Present in the following documents:

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

View BVdb publication page

---

A Precision Medicine Approach to Optimize Modulator Therapy for Rare CFTR Folding Mutants.

Journal Of Personalized Medicine

Veit, Guido G; Velkov, Tony T; Xu, Haijin H; Vadeboncoeur, Nathalie N; Bilodeau, Lara L; Matouk, Elias E; Lukacs, Gergely L GL

Publication Date: 2021-07-07

Variant appearance in text: CFTR: S549R

PubMed Link: 34357110

Variant Present in the following documents:

• Main text
• jpm-11-00643.pdf

View BVdb publication page

---

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: S549R

PubMed Link: 34299226

Variant Present in the following documents:

• Main text
• ijms-22-07606.pdf

View BVdb publication page

---

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: S549R

PubMed Link: 34202364

Variant Present in the following documents:

• Main text
• micromachines-12-00747.pdf

View BVdb publication page

---

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: S549R

PubMed Link: 34201249

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: S549R

PubMed Link: 34101145

Variant Present in the following documents:

• Main text
• 41030_2021_Article_158.pdf

View BVdb publication page

---

Cystic Fibrosis Lung Disease Modifiers and Their Relevance in the New Era of Precision Medicine.

Genes

Sepahzad, Afsoon A; Morris-Rosendahl, Deborah J DJ; Davies, Jane C JC

Publication Date: 2021-04-13

Variant appearance in text: CFTR: S549R

PubMed Link: 33924524

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: S549R

PubMed Link: 33922413

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: S549R

PubMed Link: 33920274

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Real-World Outcomes of Ivacaftor Treatment in People with Cystic Fibrosis: A Systematic Review.

Journal Of Clinical Medicine

Duckers, Jamie J; Lesher, Beth B; Thorat, Teja T; Lucas, Eleanor E; McGarry, Lisa J LJ; Chandarana, Keval K; De Iorio, Fosca F

Publication Date: 2021-04-06

Variant appearance in text: CFTR: S549R

PubMed Link: 33917386

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A Novel Cystic Fibrosis Gene Mutation C.4242+1G>C in an Omani Patient: A Case Report.

Oman Medical Journal

Al Balushi, Said S; Al Balushi, Younis Y; Al Busaidi, Moza M; Al Mutawa, Latifa L

Publication Date: 2021-03

Variant appearance in text: CFTR: S549R

PubMed Link: 33854794

Variant Present in the following documents:

• Main text
• OMJ-36-02-2000004.pdf

View BVdb publication page

---

Genetics of CFTR and male infertility.

Translational Andrology And Urology

Bieniek, Jared M JM; Lapin, Craig D CD; Jarvi, Keith A KA

Publication Date: 2021-03

Variant appearance in text: CFTR: S549R

PubMed Link: 33850775

Variant Present in the following documents:

• Main text
• tau-10-03-1391.pdf

View BVdb publication page

---

Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort.

Disease Markers

Cambraia, Amanda A; Junior, Mario Campos MC; Zembrzuski, Verônica Marques VM; Junqueira, Ricardo Magrani RM; Cabello, Pedro Hernán PH; de Cabello, Giselda Maria Kalil GMK

Publication Date: 2021

Variant appearance in text: CFTR: S549R; rs121909005

PubMed Link: 33613790

Variant Present in the following documents:

• Main text
• DM2021-9812074.pdf

View BVdb publication page

---

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry

Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ

Publication Date: 2021-09

Variant appearance in text: CFTR: S549R

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

---

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: N/A

PubMed Link: 33389985

Variant Present in the following documents:

View BVdb publication page

---

Real-World Safety of CFTR Modulators in the Treatment of Cystic Fibrosis: A Systematic Review.

Journal Of Clinical Medicine

Dagenais, Renée V E RVE; Su, Victoria C H VCH; Quon, Bradley S BS

Publication Date: 2020-12-23

Variant appearance in text: CFTR: S549R

PubMed Link: 33374882

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: N/A

PubMed Link: 33331662

Variant Present in the following documents:

View BVdb publication page

---

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: S549R

PubMed Link: 33282281

Variant Present in the following documents:

• Main text
• mrm-15-1-690.pdf

View BVdb publication page

---

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: S549R

PubMed Link: 33278322

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: S549R

PubMed Link: 33202578

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Prevalence of CBAVD in azoospermic men carrying pathogenic CFTR mutations - Evaluated in a cohort of 639 non-vasectomized azoospermic men.

Andrology

Fedder, Jens J; Jørgensen, Mette W MW; Engvad, Birte B

Publication Date: 2021-03

Variant appearance in text: CFTR: S549R

PubMed Link: 33095972

Variant Present in the following documents:

• Main text
• ANDR-9-588.pdf

View BVdb publication page

---

Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia.

International Journal Of Neonatal Screening

Sinclair, Graham G; McMahon, Vanessa V; Schellenberg, Amy A; Nelson, Tanya N TN; Chilvers, Mark M; Vallance, Hilary H

Publication Date: 2020-06

Variant appearance in text: CFTR: S549R

PubMed Link: 33073036

Variant Present in the following documents:

• IJNS-06-00046-s001.xlsx, sheet 1

View BVdb publication page

---

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: S549R

PubMed Link: 33023304

Variant Present in the following documents:

• Main text

View BVdb publication page

---