Publications:

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Q1291H-CFTR molecular dynamics simulations and ex vivo theratyping in nasal epithelial models and clinical response to elexacaftor/tezacaftor/ivacaftor in a Q1291H/F508del patient.

Frontiers In Molecular Biosciences

Allan, Katelin M KM; Astore, Miro A MA; Kardia, Egi E; Wong, Sharon L SL; Fawcett, Laura K LK; Bell, Jessica L JL; Visser, Simone S; Chen, Po-Chia PC; Griffith, Renate R; Jaffe, Adam A; Sivam, Sheila S; Vittorio, Orazio O; Kuyucak, Serdar S; Waters, Shafagh A SA

Publication Date: 2023

Variant appearance in text: CFTR: r352q

PubMed Link: 37325471

Variant Present in the following documents:

• fmolb-10-1148501.pdf

View BVdb publication page

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Comparing Cytology Brushes for Optimal Human Nasal Epithelial Cell Collection: Implications for Airway Disease Diagnosis and Research.

Journal Of Personalized Medicine

Fawcett, Laura K LK; Turgutoglu, Nihan N; Allan, Katelin M KM; Belessis, Yvonne Y; Widger, John J; Jaffe, Adam A; Waters, Shafagh A SA

Publication Date: 2023-05-21

Variant appearance in text: CFTR: R352Q

PubMed Link: 37241034

Variant Present in the following documents:

• jpm-13-00864.pdf

View BVdb publication page

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Molecular and Functional Characteristics of Airway Epithelium under Chronic Hypoxia.

International Journal Of Molecular Sciences

Wong, Sharon L SL; Kardia, Egi E; Vijayan, Abhishek A; Umashankar, Bala B; Pandzic, Elvis E; Zhong, Ling L; Jaffe, Adam A; Waters, Shafagh A SA

Publication Date: 2023-03-30

Variant appearance in text: CFTR: R352Q

PubMed Link: 37047450

Variant Present in the following documents:

• ijms-24-06475.pdf

View BVdb publication page

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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: 1055G>A; Arg352Gln

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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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: R352Q

PubMed Link: 36670555

Variant Present in the following documents:

• children-10-00004.pdf

View BVdb publication page

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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: R352Q

PubMed Link: 36631132

Variant Present in the following documents:

• Main text
• ERR-0154-2022.pdf

View BVdb publication page

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S945L-CFTR molecular dynamics, functional characterization and tezacaftor/ivacaftor efficacy in vivo and in vitro in matched pediatric patient-derived cell models.

Frontiers In Pediatrics

Allan, Katelin M KM; Astore, Miro A MA; Fawcett, Laura K LK; Wong, Sharon L SL; Chen, Po-Chia PC; Griffith, Renate R; Jaffe, Adam A; Kuyucak, Serdar S; Waters, Shafagh A SA

Publication Date: 2022

Variant appearance in text: CFTR: R352Q

PubMed Link: 36467478

Variant Present in the following documents:

• Main text
• fped-10-1062766.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: R352Q

PubMed Link: 35681464

Variant Present in the following documents:

• cells-11-01769.pdf

View BVdb publication page

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Molecular Dynamics and Theratyping in Airway and Gut Organoids Reveal R352Q-CFTR Conductance Defect.

American Journal Of Respiratory Cell And Molecular Biology

Wong, Sharon L SL; Awatade, Nikhil T NT; Astore, Miro A MA; Allan, Katelin M KM; Carnell, Michael J MJ; Slapetova, Iveta I; Chen, Po-Chia PC; Setiadi, Jeffry J; Pandzic, Elvis E; Fawcett, Laura K LK; Widger, John R JR; Whan, Renee M RM; Griffith, Renate R; Ooi, Chee Y CY; Kuyucak, Serdar S; Jaffe, Adam A; Waters, Shafagh A SA

Publication Date: 2022-07

Variant appearance in text: CFTR: R352Q

PubMed Link: 35471184

Variant Present in the following documents:

• Main text
• rcmb.2021-0337OC.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: R352Q

PubMed Link: 35406809

Variant Present in the following documents:

• cells-11-01243.pdf

View BVdb publication page

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Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Orphanet Journal Of Rare Diseases

Ni, Qi Q; Chen, Xiang X; Zhang, Ping P; Yang, Lin L; Lu, Yulan Y; Xiao, Feifan F; Wu, Bingbing B; Wang, Huijun H; Zhou, Wenhao W; Dong, Xinran X

Publication Date: 2022-03-21

Variant appearance in text: CFTR: 1055G>A; R352Q

PubMed Link: 35313924

Variant Present in the following documents:

• 13023_2022_2279_MOESM3_ESM.xls, sheet 1

View BVdb publication page

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Progress in precision medicine in cystic fibrosis: a focus on CFTR modulator therapy.

Breathe (Sheffield, England)

Tewkesbury, Daniel H DH; Robey, Rebecca C RC; Barry, Peter J PJ

Publication Date: 2021-12

Variant appearance in text: CFTR: R352Q

PubMed Link: 35035569

Variant Present in the following documents:

• Main text
• EDU-0112-2021.pdf

View BVdb publication page

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Genetic and Transcriptional Contributions to Relapse in Normal Karyotype Acute Myeloid Leukemia.

Blood Cancer Discovery

Petti, Allegra A AA; Khan, Saad M SM; Xu, Ziheng Z; Helton, Nichole N; Fronick, Catrina C CC; Fulton, Robert R; Ramakrishnan, Sai M SM; Nonavinkere Srivatsan, Sridhar S; Heath, Sharon E SE; Westervelt, Peter P; Payton, Jacqueline E JE; Walter, Matthew J MJ; Link, Daniel C DC; DiPersio, John J; Miller, Christopher C; Ley, Timothy J TJ

Publication Date: 2022-01

Variant appearance in text: CFTR: R352Q

PubMed Link: 35019859

Variant Present in the following documents:

• bcd-21-0050_supp.table_1_suppst1.xlsx, sheet 4

View BVdb publication page

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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: R352Q

PubMed Link: 34858177

Variant Present in the following documents:

• Main text
• fphar-12-746710.pdf

View BVdb publication page

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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: R352Q

PubMed Link: 34577628

Variant Present in the following documents:

• Main text
• pharmaceuticals-14-00928.pdf

View BVdb publication page

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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: rs121908753

PubMed Link: 34541464

Variant Present in the following documents:

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

View BVdb publication page

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Cystic fibrosis in South Africa: spectrum of disease and determinants of outcome.

Erj Open Research

Zampoli, Marco M; Verstraete, Janine J; Frauendorf, Marlize M; Kassanjee, Reshma R; Workman, Lesley L; Morrow, Brenda M BM; Zar, Heather J HJ

Publication Date: 2021-07

Variant appearance in text: CFTR: 1055G>A; R352Q

PubMed Link: 34350279

Variant Present in the following documents:

• 00856-2020.supplement.pdf

View BVdb publication page

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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: R352Q

PubMed Link: 34201249

Variant Present in the following documents:

• Main text
• ijms-22-06193.pdf

View BVdb publication page

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Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.

Human Mutation

Nykamp, Keith K; Truty, Rebecca R; Riethmaier, Darlene D; Wilkinson, Julia J; Bristow, Sara L SL; Aguilar, Sienna S; Neitzel, Dana D; Faulkner, Nicole N; Aradhya, Swaroop S

Publication Date: 2021-09

Variant appearance in text: CFTR: 1055G>A; Arg352Gln

PubMed Link: 34196078

Variant Present in the following documents:

• HUMU-42-1165-s002.xlsx, sheet 1

View BVdb publication page

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Tensin 1 (TNS1) is a modifier gene for low body mass index (BMI) in homozygous [F508del]CFTR patients.

Physiological Reports

Walton, Nathan I NI; Zhang, Xijun X; Soltis, Anthony R AR; Starr, Joshua J; Dalgard, Clifton L CL; Wilkerson, Matthew D MD; Conrad, Douglas D; Pollard, Harvey B HB

Publication Date: 2021-06

Variant appearance in text: CFTR: R352Q

PubMed Link: 34086412

Variant Present in the following documents:

• PHY2-9-e14886-s002.pdf

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: CFTR: 1055G>A; Arg352Gln; rs121908753

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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: R352Q

PubMed Link: 33922413

Variant Present in the following documents:

• Main text

View BVdb publication page

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Severe Genotype, Pancreatic Insufficiency and Low Dose of Pancreatic Enzymes Associate with Abnormal Serum Sterol Profile in Cystic Fibrosis.

Biomolecules

Drzymała-Czyż, Sławomira S; Krzyżanowska-Jankowska, Patrycja P; Dziedzic, Krzysztof K; Lisowska, Aleksandra A; Kurek, Szymon S; Goździk-Spychalska, Joanna J; Kononets, Victoria V; Woźniak, Dagmara D; Mądry, Edyta E; Walkowiak, Jarosław J

Publication Date: 2021-02-19

Variant appearance in text: CFTR: R352Q

PubMed Link: 33669566

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 1055G>A; rs121908753

PubMed Link: 33600428

Variant Present in the following documents:

• pgen.1009323.s003.xlsx, sheet 1

View BVdb publication page

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Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.

Genes

Bozdogan, Sevcan Tug ST; Mujde, Cem C; Boga, Ibrahim I; Sonmezler, Ozge O; Hanta, Abdullah A; Rencuzogullari, Cagla C; Ozcan, Dilek D; Altintas, Derya Ufuk DU; Bisgin, Atil A

Publication Date: 2021-01-31

Variant appearance in text: CFTR: R352Q

PubMed Link: 33572515

Variant Present in the following documents:

• Main text
• genes-12-00206.pdf

View BVdb publication page

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Safety and efficacy of the cystic fibrosis transmembrane conductance regulator potentiator icenticaftor (QBW251).

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

Kazani, Shamsah S; Rowlands, David J DJ; Bottoli, Ivan I; Milojevic, Julie J; Alcantara, Jose J; Jones, Ieuan I; Kulmatycki, Kenneth K; Machineni, Surendra S; Mostovy, Lidia L; Nicholls, Ian I; Nick, Jerry A JA; Rowe, Steven M SM; Simmonds, Nicholas J NJ; Vegesna, Raju R; Verheijen, Jeroen J; Danahay, Henry H; Gosling, Martin M; Ayalavajjala, Phaninatha Sarma PS; Salman, Mohammed M; Strieter, Robert R

Publication Date: 2021-03

Variant appearance in text: CFTR: R352Q

PubMed Link: 33293212

Variant Present in the following documents:

• nihms-1785429.pdf

View BVdb publication page

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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: R352Q

PubMed Link: 33282281

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R352Q

PubMed Link: 33073036

Variant Present in the following documents:

• IJNS-06-00046-s001.xlsx, sheet 1

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: R352Q

PubMed Link: 32934006

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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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: R352Q

PubMed Link: 32414011

Variant Present in the following documents:

• Main text
• genes-11-00546.pdf

View BVdb publication page

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Abstracts from the 25th Italian Congress of Cystic Fibrosis and the 15th National Congress of Cystic Fibrosis Italian Society : Assago, Milan. 10 - 12 October 2019.

Italian Journal Of Pediatrics

Publication Date: 2020-04-01

Variant appearance in text: CFTR: R352Q

PubMed Link: 32234058

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cystic Fibrosis Transmembrane Conductance Regulator Modulator Therapy: A Review for the Otolaryngologist.

American Journal Of Rhinology & Allergy

Lee, Saangyoung E SE; Farzal, Zainab Z; Daniels, M Leigh Anne MLA; Thorp, Brian D BD; Zanation, Adam M AM; Senior, Brent A BA; Ebert, Charles S CS; Kimple, Adam J AJ

Publication Date: 2020-07

Variant appearance in text: CFTR: R352Q

PubMed Link: 32168995

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R352Q

PubMed Link: 32130336

Variant Present in the following documents:

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

View BVdb publication page

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Towards next generation therapies for cystic fibrosis: Folding, function and pharmacology of CFTR.

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

Bose, Samuel J SJ; Krainer, Georg G; Ng, Demi R S DRS; Schenkel, Mathias M; Shishido, Hideki H; Yoon, Jae Seok JS; Haggie, Peter M PM; Schlierf, Michael M; Sheppard, David N DN; Skach, William R WR

Publication Date: 2020-03

Variant appearance in text: CFTR: R352Q

PubMed Link: 31902693

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R352Q

PubMed Link: 31715091

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutation-specific dual potentiators maximize rescue of CFTR gating mutants.

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

Veit, Guido G; Da Fonte, Dillon F DF; Avramescu, Radu G RG; Premchandar, Aiswarya A; Bagdany, Miklos M; Xu, Haijin H; Bensinger, Dennis D; Stubba, Daniel D; Schmidt, Boris B; Matouk, Elias E; Lukacs, Gergely L GL

Publication Date: 2020-03

Variant appearance in text: CFTR: R352Q

PubMed Link: 31678009

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: 1055G>A; R352Q

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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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: 1055G>A; R352Q

PubMed Link: 31036917

Variant Present in the following documents:

• 41436_2019_525_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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The combination of tezacaftor and ivacaftor in the treatment of patients with cystic fibrosis: clinical evidence and future prospects in cystic fibrosis therapy.

Therapeutic Advances In Respiratory Disease

Lommatzsch, Sherstin T ST; Taylor-Cousar, Jennifer L JL

Publication Date: 2019

Variant appearance in text: CFTR: R352Q

PubMed Link: 31027466

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R352Q

PubMed Link: 30996306

Variant Present in the following documents:

• Main text
• 41598_2019_Article_42404.pdf

View BVdb publication page

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The CFTR gene variants in Japanese children with idiopathic pancreatitis.

Human Genome Variation

Iso, Manami M; Suzuki, Mitsuyoshi M; Yanagi, Kumiko K; Minowa, Kei K; Sakurai, Yumiko Y; Nakano, Satoshi S; Satou, Kazuhito K; Shimizu, Toshiaki T; Kaname, Tadashi T

Publication Date: 2019

Variant appearance in text: CFTR: 1055G>A; Arg352Gln; rs121908753

PubMed Link: 30992994

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: R352Q

PubMed Link: 30873022

Variant Present in the following documents:

• Main text
• fphar-10-00121.pdf

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: CFTR: R352Q; rs121908753

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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: Arg352Gln; rs121908753

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: R352Q

PubMed Link: 30459277

Variant Present in the following documents:

• Main text
• pnas.201815287.pdf

View BVdb publication page

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Pharmacogenetic testing in the Veterans Health Administration (VHA): policy recommendations from the VHA Clinical Pharmacogenetics Subcommittee.

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

Vassy, Jason L JL; Stone, Annjanette A; Callaghan, John T JT; Mendes, Margaret M; Meyer, Laurence J LJ; Pratt, Victoria M VM; Przygodzki, Ronald M RM; Scheuner, Maren T MT; Wang-Rodriguez, Jessica J; Schichman, Steven A SA; ,

Publication Date: 2019-02

Variant appearance in text: CFTR: R352Q

PubMed Link: 29858578

Variant Present in the following documents:

• NIHMS965181-supplement-Sup_file.xlsx, sheet 10

View BVdb publication page

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Cystic Fibrosis: Translating Molecular Mechanisms into Effective Therapies.

Annals Of The American Thoracic Society

Jennings, Mark T MT; Flume, Patrick A PA

Publication Date: 2018-08

Variant appearance in text: CFTR: R352Q

PubMed Link: 29812963

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: R352Q

PubMed Link: 29685811

Variant Present in the following documents:

• Main text

View BVdb publication page

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Structural mechanisms of CFTR function and dysfunction.

The Journal Of General Physiology

Hwang, Tzyh-Chang TC; Yeh, Jiunn-Tyng JT; Zhang, Jingyao J; Yu, Ying-Chun YC; Yeh, Han-I HI; Destefano, Samantha S

Publication Date: 2018-04-02

Variant appearance in text: CFTR: R352Q

PubMed Link: 29581173

Variant Present in the following documents:

• Main text
• JGP_201711946.pdf

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: 1055G>A; Arg352Gln; rs121908753

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

View BVdb publication page

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Germline genetic variants with implications for disease risk and therapeutic outcomes.

Physiological Genomics

Pasternak, Amy L AL; Ward, Kristen M KM; Luzum, Jasmine A JA; Ellingrod, Vicki L VL; Hertz, Daniel L DL

Publication Date: 2017-10-01

Variant appearance in text: CFTR: R352Q

PubMed Link: 28887371

Variant Present in the following documents:

• Main text

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Increased Soluble VCAM-1 and Normal P-Selectin in Cystic Fibrosis: a Cross-Sectional Study.

Lung

Nowak, Jan K JK; Wojsyk-Banaszak, Irena I; Mądry, Edyta E; Wykrętowicz, Andrzej A; Krzyżanowska, Patrycja P; Drzymała-Czyż, Sławomira S; Nowicka, Agata A; Pogorzelski, Andrzej A; Sapiejka, Ewa E; Skorupa, Wojciech W; Szczepanik, Mariusz M; Lisowska, Aleksandra A; Walkowiak, Jaroslaw J

Publication Date: 2017-08

Variant appearance in text: CFTR: R352Q

PubMed Link: 28646244

Variant Present in the following documents:

• Main text
• 408_2017_Article_29.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: CFTR: 1055G>A; Arg352Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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CFTR gating: Invisible transitions made visible.

The Journal Of General Physiology

Csanády, László L

Publication Date: 2017-04-03

Variant appearance in text: CFTR: R352Q

PubMed Link: 28264886

Variant Present in the following documents:

• Main text

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Electrostatic tuning of the pre- and post-hydrolytic open states in CFTR.

The Journal Of General Physiology

Zhang, Jingyao J; Hwang, Tzyh-Chang TC

Publication Date: 2017-03-06

Variant appearance in text: CFTR: R352Q

PubMed Link: 28242630

Variant Present in the following documents:

• Main text

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