Publications:

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Post-approval studies with the CFTR modulators Elexacaftor-Tezacaftor-Ivacaftor.

Frontiers In Pharmacology

Tümmler, Burkhard B

Publication Date: 2023

Variant appearance in text: CFTR: Tyr122Ter

PubMed Link: 37025483

Variant Present in the following documents:

• Main text
• fphar-14-1158207.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: 366T>A; Tyr122Ter

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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Amikacin Liposomal Inhalation Suspension in the Treatment of Mycobacterium abscessus Lung Infection: A French Observational Experience.

Open Forum Infectious Diseases

Chiron, Raphael R; Hoefsloot, Wouter W; Van Ingen, Jakko J; Marchandin, Hélène H; Kremer, Laurent L; Morisse-Pradier, Hélène H; Charriot, Jeremy J; Mallet, Jean-Pierre JP; Herrmann, Jean-Louis JL; Caimmi, Davide D; Moreau, Johan J; Dumont, Yann Y; Godreuil, Sylvain S; Bergeron, Anne A; Drevait, Margot M; Bouzat-Rossigneux, Elodie E; Terrail, Nicolas N; Andrejak, Claire C; Veziris, Nicolas N; Grenet, Dominique D; Coudrat, Alexandre A; Catherinot, Emilie E

Publication Date: 2022-10

Variant appearance in text: CFTR: Y122X

PubMed Link: 36267258

Variant Present in the following documents:

• Main text
• ofac465.pdf

View BVdb publication page

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Downstream Alternate Start Site Allows N-Terminal Nonsense Variants to Escape NMD and Results in Functional Recovery by Readthrough and Modulator Combination.

Journal Of Personalized Medicine

Bowling, Alyssa A; Eastman, Alice A; Merlo, Christian C; Lin, Gabrielle G; West, Natalie N; Patel, Shivani S; Cutting, Garry G; Sharma, Neeraj N

Publication Date: 2022-09-01

Variant appearance in text: CFTR: Y122X

PubMed Link: 36143233

Variant Present in the following documents:

• Main text
• jpm-12-01448.pdf

View BVdb publication page

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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: Y122X

PubMed Link: 35949411

Variant Present in the following documents:

• Main text
• CCR3-10-e05869.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: 366T>A; Y122X

PubMed Link: 35740997

Variant Present in the following documents:

• Main text
• cells-11-01868.pdf

View BVdb publication page

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Accounting for population structure in genetic studies of cystic fibrosis.

Hgg Advances

Kingston, Hanley H; Stilp, Adrienne M AM; Gordon, William W; Broome, Jai J; Gogarten, Stephanie M SM; Ling, Hua H; Barnard, John J; Dugan-Perez, Shannon S; Ellinor, Patrick T PT; Gabriel, Stacey S; Germer, Soren S; Gibbs, Richard A RA; Gupta, Namrata N; Rice, Kenneth K; Smith, Albert V AV; Zody, Michael C MC; , ; , ; Blackman, Scott M SM; Cutting, Garry G; Knowles, Michael R MR; Zhou, Yi-Hui YH; Rosenfeld, Margaret M; Gibson, Ronald L RL; Bamshad, Michael M; Fohner, Alison A; Blue, Elizabeth E EE

Publication Date: 2022-07-14

Variant appearance in text: CFTR: 366T>A; Y122X

PubMed Link: 35647563

Variant Present in the following documents:

• Main text
• mmc2.pdf
• main.pdf

View BVdb publication page

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CFTR mRNAs with nonsense codons are degraded by the SMG6-mediated endonucleolytic decay pathway.

Nature Communications

Sanderlin, Edward J EJ; Keenan, Melissa M MM; Mense, Martin M; Revenko, Alexey S AS; Monia, Brett P BP; Guo, Shuling S; Huang, Lulu L

Publication Date: 2022-04-29

Variant appearance in text: CFTR: Y122X

PubMed Link: 35487895

Variant Present in the following documents:

• Main text
• 41467_2022_29935_MOESM2_ESM.pdf
• 41467_2022_Article_29935.pdf
• 41467_2022_29935_MOESM1_ESM.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: 366T>A; Y122X

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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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: N/A

PubMed Link: 34857524

Variant Present in the following documents:

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: N/A

PubMed Link: 34857524

Variant Present in the following documents:

View BVdb publication page

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Integrity and Stability of PTC Bearing CFTR mRNA and Relevance to Future Modulator Therapies in Cystic Fibrosis.

Genes

Clarke, Luka A LA; Luz, Vanessa C C VCC; Targowski, Szymon S; Ramalho, Sofia S SS; Farinha, Carlos M CM; Amaral, Margarida D MD

Publication Date: 2021-11-18

Variant appearance in text: CFTR: 366T>A; Y122X

PubMed Link: 34828417

Variant Present in the following documents:

• Main text
• genes-12-01810.pdf

View BVdb publication page

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Comprehensive Analysis of Combinatorial Pharmacological Treatments to Correct Nonsense Mutations in the CFTR Gene.

International Journal Of Molecular Sciences

Venturini, Arianna A; Borrelli, Anna A; Musante, Ilaria I; Scudieri, Paolo P; Capurro, Valeria V; Renda, Mario M; Pedemonte, Nicoletta N; Galietta, Luis J V LJV

Publication Date: 2021-11-04

Variant appearance in text: CFTR: Y122X

PubMed Link: 34769402

Variant Present in the following documents:

• Main text
• ijms-22-11972.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: rs79660178

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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Pharmacological Modulation of Ion Channels for the Treatment of Cystic Fibrosis.

Journal Of Experimental Pharmacology

Pinto, Madalena C MC; Silva, Iris A L IAL; Figueira, Miriam F MF; Amaral, Margarida D MD; Lopes-Pacheco, Miquéias M

Publication Date: 2021

Variant appearance in text: CFTR: Y122X

PubMed Link: 34326672

Variant Present in the following documents:

• Main text

View BVdb publication page

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A small molecule that induces translational readthrough of CFTR nonsense mutations by eRF1 depletion.

Nature Communications

Sharma, Jyoti J; Du, Ming M; Wong, Eric E; Mutyam, Venkateshwar V; Li, Yao Y; Chen, Jianguo J; Wangen, Jamie J; Thrasher, Kari K; Fu, Lianwu L; Peng, Ning N; Tang, Liping L; Liu, Kaimao K; Mathew, Bini B; Bostwick, Robert J RJ; Augelli-Szafran, Corinne E CE; Bihler, Hermann H; Liang, Feng F; Mahiou, Jerome J; Saltz, Josef J; Rab, Andras A; Hong, Jeong J; Sorscher, Eric J EJ; Mendenhall, Eric M EM; Coppola, Candice J CJ; Keeling, Kim M KM; Green, Rachel R; Mense, Martin M; Suto, Mark J MJ; Rowe, Steven M SM; Bedwell, David M DM

Publication Date: 2021-07-16

Variant appearance in text: CFTR: Y122X

PubMed Link: 34272367

Variant Present in the following documents:

• 41467_2021_24575_MOESM3_ESM.pdf

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: Y122X

PubMed Link: 33073036

Variant Present in the following documents:

• IJNS-06-00046-s001.xlsx, sheet 1

View BVdb publication page

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Development of a Single Construct System for Site-Directed RNA Editing Using MS2-ADAR.

International Journal Of Molecular Sciences

Tohama, Tetsuto T; Sakari, Matomo M; Tsukahara, Toshifumi T

Publication Date: 2020-07-13

Variant appearance in text: CFTR: Y122X

PubMed Link: 32668759

Variant Present in the following documents:

• Main text
• ijms-21-04943.pdf

View BVdb publication page

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Pharmacological approaches for targeting cystic fibrosis nonsense mutations.

European Journal Of Medicinal Chemistry

Sharma, Jyoti J; Keeling, Kim M KM; Rowe, Steven M SM

Publication Date: 2020-08-15

Variant appearance in text: CFTR: Y122X

PubMed Link: 32512483

Variant Present in the following documents:

• Main text

View BVdb publication page

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Immunopathology of Airway Surface Liquid Dehydration Disease.

Journal Of Immunology Research

Lewis, Brandon W BW; Patial, Sonika S; Saini, Yogesh Y

Publication Date: 2019

Variant appearance in text: CFTR: Y122X

PubMed Link: 31396541

Variant Present in the following documents:

• JIR2019-2180409.pdf

View BVdb publication page

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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: rs79660178

PubMed Link: 31019283

Variant Present in the following documents:

• Main text

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: Y122X; rs79660178

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis.

Plos Genetics

Sharma, Neeraj N; Evans, Taylor A TA; Pellicore, Matthew J MJ; Davis, Emily E; Aksit, Melis A MA; McCague, Allison F AF; Joynt, Anya T AT; Lu, Zhongzhu Z; Han, Sangwoo T ST; Anzmann, Arianna F AF; Lam, Anh-Thu N AN; Thaxton, Abigail A; West, Natalie N; Merlo, Christian C; Gottschalk, Laura B LB; Raraigh, Karen S KS; Sosnay, Patrick R PR; Cotton, Calvin U CU; Cutting, Garry R GR

Publication Date: 2018-11

Variant appearance in text: CFTR: Y122X

PubMed Link: 30444886

Variant Present in the following documents:

• Main text
• pgen.1007723.pdf

View BVdb publication page

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Efficient and precise editing of endogenous transcripts with SNAP-tagged ADARs.

Nature Methods

Vogel, Paul P; Moschref, Matin M; Li, Qin Q; Merkle, Tobias T; Selvasaravanan, Karthika D KD; Li, Jin Billy JB; Stafforst, Thorsten T

Publication Date: 2018-07

Variant appearance in text: CFTR: Y122X

PubMed Link: 29967493

Variant Present in the following documents:

View BVdb publication page

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Genetics and genomic medicine in Tunisia.

Molecular Genetics & Genomic Medicine

Elloumi-Zghal, Houda H; Chaabouni Bouhamed, Habiba H

Publication Date: 2018-03

Variant appearance in text: CFTR: Tyr122Ter

PubMed Link: 29663716

Variant Present in the following documents:

• Main text
• MGG3-6-134.pdf

View BVdb publication page

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Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons.

Erj Open Research

Pranke, Iwona I; Bidou, Laure L; Martin, Natacha N; Blanchet, Sandra S; Hatton, Aurélie A; Karri, Sabrina S; Cornu, David D; Costes, Bruno B; Chevalier, Benoit B; Tondelier, Danielle D; Girodon, Emmanuelle E; Coupet, Matthieu M; Edelman, Aleksander A; Fanen, Pascale P; Namy, Olivier O; Sermet-Gaudelus, Isabelle I; Hinzpeter, Alexandre A

Publication Date: 2018-01

Variant appearance in text: CFTR: Tyr122*

PubMed Link: 29497617

Variant Present in the following documents:

• Main text
• 00080-2017_supp.pdf
• 00080-2017.pdf

View BVdb publication page

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Optimized approach for the identification of highly efficient correctors of nonsense mutations in human diseases.

Plos One

Benhabiles, Hana H; Gonzalez-Hilarion, Sara S; Amand, Séverine S; Bailly, Christine C; Prévotat, Anne A; Reix, Philippe P; Hubert, Dominique D; Adriaenssens, Eric E; Rebuffat, Sylvie S; Tulasne, David D; Lejeune, Fabrice F

Publication Date: 2017

Variant appearance in text: CFTR: Y122X

PubMed Link: 29131862

Variant Present in the following documents:

• Main text
• pone.0187930.pdf

View BVdb publication page

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Abundant off-target edits from site-directed RNA editing can be reduced by nuclear localization of the editing enzyme.

Rna Biology

Vallecillo-Viejo, Isabel C IC; Liscovitch-Brauer, Noa N; Montiel-Gonzalez, Maria Fernanda MF; Eisenberg, Eli E; Rosenthal, Joshua J C JJC

Publication Date: 2018-01-02

Variant appearance in text: CFTR: Y122X

PubMed Link: 29099293

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: 366T>A; Tyr122Ter; rs79660178

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

View BVdb publication page

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Correction of CFTR function in nasal epithelial cells from cystic fibrosis patients predicts improvement of respiratory function by CFTR modulators.

Scientific Reports

Pranke, Iwona M IM; Hatton, Aurélie A; Simonin, Juliette J; Jais, Jean Philippe JP; Le Pimpec-Barthes, Françoise F; Carsin, Ania A; Bonnette, Pierre P; Fayon, Michael M; Stremler-Le Bel, Nathalie N; Grenet, Dominique D; Thumerel, Matthieu M; Mazenq, Julie J; Urbach, Valerie V; Mesbahi, Myriam M; Girodon-Boulandet, Emanuelle E; Hinzpeter, Alexandre A; Edelman, Aleksander A; Sermet-Gaudelus, Isabelle I

Publication Date: 2017-08-07

Variant appearance in text: CFTR: Y122X

PubMed Link: 28785019

Variant Present in the following documents:

• Main text

View BVdb publication page

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Optimization of the French cystic fibrosis newborn screening programme by a centralized tracking process.

Journal Of Medical Screening

Munck, Anne A; Delmas, Dominique D; Audrézet, Marie-Pierre MP; Lemonnier, Lydie L; Cheillan, David D; Roussey, Michel M

Publication Date: 2018-03

Variant appearance in text: CFTR: Y122X

PubMed Link: 28454512

Variant Present in the following documents:

• Main text
• 10.1177_0969141317692611.pdf

View BVdb publication page

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Barriers to inhaled gene therapy of obstructive lung diseases: A review.

Journal Of Controlled Release : Official Journal Of The Controlled Release Society

Kim, Namho N; Duncan, Gregg A GA; Hanes, Justin J; Suk, Jung Soo JS

Publication Date: 2016-10-28

Variant appearance in text: CFTR: Y122X

PubMed Link: 27196742

Variant Present in the following documents:

• Main text

View BVdb publication page

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Applicability and Efficiency of NGS in Routine Diagnosis: In-Depth Performance Analysis of a Complete Workflow for CFTR Mutation Analysis.

Plos One

Pagin, Adrien A; Devos, Aurore A; Figeac, Martin M; Truant, Maryse M; Willoquaux, Christelle C; Broly, Franck F; Lalau, Guy G

Publication Date: 2016

Variant appearance in text: CFTR: Y122X

PubMed Link: 26900683

Variant Present in the following documents:

• Main text
• pone.0149426.pdf

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: 366T>A; Tyr122*

PubMed Link: 26014425

Variant Present in the following documents:

• Main text
• ejhg201599a.pdf

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: 366T>A; Y122X

PubMed Link: 25674778

Variant Present in the following documents:

• Main text

View BVdb publication page

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CFTR Gene Mutations and Asthma in Indian Children: A Case-Control Study.

Indian Journal Of Clinical Biochemistry : Ijcb

Dixit, Pratibha P; Awasthi, Shally S; Maurya, Nutan N; Agarwal, Sarita S; Srinivasan, M M

Publication Date: 2015-01

Variant appearance in text: CFTR: Y122X

PubMed Link: 25646039

Variant Present in the following documents:

• Main text

View BVdb publication page

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New trends in aminoglycosides use.

Medchemcomm

Fosso, Marina Y MY; Li, Yijia Y; Garneau-Tsodikova, Sylvie S

Publication Date: 2014-08-01

Variant appearance in text: CFTR: Y122X

PubMed Link: 25071928

Variant Present in the following documents:

• Main text

View BVdb publication page

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Impact of heterozygote CFTR mutations in COPD patients with chronic bronchitis.

Respiratory Research

Raju, S Vamsee SV; Tate, Jody H JH; Peacock, Sandra K G SK; Fang, Ping P; Oster, Robert A RA; Dransfield, Mark T MT; Rowe, Steven M SM

Publication Date: 2014-02-11

Variant appearance in text: CFTR: Y122X

PubMed Link: 24517344

Variant Present in the following documents:

• Main text
• 1465-9921-15-18.pdf

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: rs79660178

PubMed Link: 23974870

Variant Present in the following documents:

• NIHMS512446-supplement-12.xlsx, sheet 2

View BVdb publication page

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