Publications:

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Personalized medicine: Function of CFTR variant p.Arg334Trp is rescued by currently available CFTR modulators.

Frontiers In Molecular Biosciences

Railean, Violeta V; Rodrigues, Cláudia S CS; Ramalho, Sofia S SS; Silva, Iris A L IAL; Bartosch, Jan J; Farinha, Carlos M CM; Pankonien, Ines I; Amaral, Margarida D MD

Publication Date: 2023

Variant appearance in text: CFTR: Tyr1092X

PubMed Link: 37006619

Variant Present in the following documents:

• Main text
• fmolb-10-1155705.pdf

View BVdb publication page

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Elexacaftor-Tezacaftor-Ivacaftor: A Life-Changing Triple Combination of CFTR Modulator Drugs for Cystic Fibrosis.

Pharmaceuticals (Basel, Switzerland)

Bacalhau, Mafalda M; Camargo, Mariana M; Magalhães-Ghiotto, Grace A V GAV; Drumond, Sybelle S; Castelletti, Carlos Henrique M CHM; Lopes-Pacheco, Miquéias M

Publication Date: 2023-03-08

Variant appearance in text: CFTR: Y1092X

PubMed Link: 36986509

Variant Present in the following documents:

• Main text
• pharmaceuticals-16-00410.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: 3276C>A; Tyr1092Ter

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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Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores.

Molecular Genetics & Genomic Medicine

Ishorst, Nina N; Henschel, Leonie L; Thieme, Frederic F; Drichel, Dmitriy D; Sivalingam, Sugirthan S; Mehrem, Sarah L SL; Fechtner, Ariane C AC; Fazaal, Julia J; Welzenbach, Julia J; Heimbach, André A; Maj, Carlo C; Borisov, Oleg O; Hausen, Jonas J; Raff, Ruth R; Hoischen, Alexander A; Dixon, Michael M; Rada-Iglesias, Alvaro A; Bartusel, Michaela M; Rojas-Martinez, Augusto A; Aldhorae, Khalid K; Braumann, Bert B; Kruse, Teresa T; Kirschneck, Christian C; Spanier, Gerrit G; Reutter, Heiko H; Nowak, Stefanie S; Gölz, Lina L; Knapp, Michael M; Buness, Andreas A; Krawitz, Peter P; Nöthen, Markus M MM; Nothnagel, Michael M; Becker, Tim T; Ludwig, Kerstin U KU; Mangold, Elisabeth E

Publication Date: 2022-12-05

Variant appearance in text: CFTR: 3276C>A; Tyr1092Ter

PubMed Link: 36468602

Variant Present in the following documents:

• MGG3-11-e2109-s001.pdf

View BVdb publication page

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Successful pregnancy in a cystic fibrosis patient with a severe impairment of lung function receiving Elexacaftor-Tezacaftor-Ivacaftor.

Respiratory Medicine Case Reports

Balmpouzis, Zisis Z; Faure van Rossum, Annabelle A; Baud, David D; Panchaud, Alice A; Mitropoulou, Georgia G; Mazza Stalder, Jesica J; Koutsokera, Angela A

Publication Date: 2022

Variant appearance in text: CFTR: Y1092X

PubMed Link: 36386288

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Statistical Evaluation of Metaproteomics and 16S rRNA Amplicon Sequencing Techniques for Study of Gut Microbiota Establishment in Infants with Cystic Fibrosis.

Microbiology Spectrum

Saralegui, Claudia C; García-Durán, Carmen C; Romeu, Eduardo E; Hernáez-Sánchez, María Luisa ML; Maruri, Ainhize A; Bastón-Paz, Natalia N; Lamas, Adelaida A; Vicente, Saioa S; Pérez-Ruiz, Estela E; Delgado, Isabel I; Luna-Paredes, Carmen C; Caballero, Juan de Dios JD; Zamora, Javier J; Monteoliva, Lucía L; Gil, Concepción C; Del Campo, Rosa R

Publication Date: 2022-10-18

Variant appearance in text: CFTR: Y1092X

PubMed Link: 36255300

Variant Present in the following documents:

• Main text
• spectrum.01466-22.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: Y1092X

PubMed Link: 35949411

Variant Present in the following documents:

• Main text
• CCR3-10-e05869.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: 3276C>A; Y1092X

PubMed Link: 35647563

Variant Present in the following documents:

• mmc2.pdf
• mmc1.pdf

View BVdb publication page

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CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor.

Jci Insight

Raraigh, Karen S KS; Paul, Kathleen C KC; Goralski, Jennifer L JL; Worthington, Erin N EN; Faino, Anna V AV; Sciortino, Stanley S; Wang, Yiting Y; Aksit, Melis A MA; Ling, Hua H; Osorio, Derek L DL; Onchiri, Frankline M FM; Patel, Shivani U SU; Merlo, Christian A CA; Montemayor, Kristina K; Gibson, Ronald L RL; West, Natalie E NE; Thakerar, Amita A; Bridges, Robert J RJ; Sheppard, David N DN; Sharma, Neeraj N; Cutting, Garry R GR

Publication Date: 2022-03-22

Variant appearance in text: CFTR: 3276C>A; Y1092X

PubMed Link: 35315358

Variant Present in the following documents:

• jciinsight-7-148841-s135.pdf
• jciinsight-7-148841.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: 3276C>A; Y1092X

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

The European Respiratory Journal

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

Publication Date: 2022-08

Variant appearance in text: CFTR: 3276C>A; Y1092X

PubMed Link: 35086832

Variant Present in the following documents:

• ERJ-00508-2021.Supplement.pdf

View BVdb publication page

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

Bmj Open Respiratory Research

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

Publication Date: 2021-12

Variant appearance in text: CFTR: Y1092X

PubMed Link: 34857524

Variant Present in the following documents:

• bmjresp-2021-000998supp001.pdf

View BVdb publication page

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

Bmj Open Respiratory Research

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

Publication Date: 2021-12

Variant appearance in text: CFTR: Y1092X

PubMed Link: 34857524

Variant Present in the following documents:

• bmjresp-2021-000998supp001.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: rs121908761

PubMed Link: 34541464

Variant Present in the following documents:

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

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: 3276C>A; Tyr1092Ter; rs121908761

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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DeltaF508 CFTR Hetero- and Homozygous Paediatric Patients with Cystic Fibrosis Do Not Differ with Regard to Nutritional Status.

Nutrients

Mędza, Aleksandra A; Kaźmierska, Katarzyna K; Wielgomas, Bartosz B; Konieczna, Lucyna L; Olędzka, Ilona I; Szlagatys-Sidorkiewicz, Agnieszka A; Sznurkowska, Katarzyna K

Publication Date: 2021-04-21

Variant appearance in text: CFTR: Y1092X

PubMed Link: 33919435

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic burden linked to founder effects in Saguenay-Lac-Saint-Jean illustrates the importance of genetic screening test availability.

Journal Of Medical Genetics

Bchetnia, Mbarka M; Bouchard, Luigi L; Mathieu, Jean J; Campeau, Philippe M PM; Morin, Charles C; Brisson, Diane D; Laberge, Anne-Marie AM; Vézina, Hélène H; Gaudet, Daniel D; Laprise, Catherine C

Publication Date: 2021-10

Variant appearance in text: CFTR: 3276C>A; Tyr1092X

PubMed Link: 33910931

Variant Present in the following documents:

• Main text

View BVdb publication page

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Tobramycin and vestibulotoxicity: retrospective analysis of four cases.

European Journal Of Hospital Pharmacy : Science And Practice

Vonk, S E M SEM; Weersink, E J M EJM; Majoor, C J CJ; Kemper, E M EM; ,

Publication Date: 2022-03

Variant appearance in text: CFTR: Y1092X

PubMed Link: 33753422

Variant Present in the following documents:

• Main text
• ejhpharm-2020-002588.pdf

View BVdb publication page

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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: 3276C>A; Y1092X; rs121908761

PubMed Link: 33613790

Variant Present in the following documents:

• Main text
• DM2021-9812074.pdf

View BVdb publication page

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

Clinical And Translational Science

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

Publication Date: 2021-03

Variant appearance in text: CFTR: Y1092X

PubMed Link: 33278322

Variant Present in the following documents:

• Main text
• CTS-14-656.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: Y1092X

PubMed Link: 33073036

Variant Present in the following documents:

• IJNS-06-00046-s001.xlsx, sheet 1

View BVdb publication page

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Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies.

International Journal Of Neonatal Screening

Marcão, Ana A; Barreto, Celeste C; Pereira, Luísa L; Vaz, Luísa Guedes LG; Cavaco, José J; Casimiro, Ana A; Félix, Miguel M; Silva, Teresa Reis TR; Barbosa, Telma T; Freitas, Cristina C; Nunes, Sidónia S; Felício, Verónica V; Lopes, Lurdes L; Amaral, Margarida M; Vilarinho, Laura L

Publication Date: 2018-09

Variant appearance in text: CFTR: Y1092X

PubMed Link: 33072945

Variant Present in the following documents:

• Main text
• IJNS-04-00022.pdf

View BVdb publication page

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A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.

Journal Of Personalized Medicine

Kiseleva, Anna V AV; Klimushina, Marina V MV; Sotnikova, Evgeniia A EA; Divashuk, Mikhail G MG; Ershova, Alexandra I AI; Skirko, Olga P OP; Kurilova, Olga V OV; Zharikova, Anastasia A AA; Khlebus, Eleonora Yu EY; Efimova, Irina A IA; Pokrovskaya, Maria S MS; Slominsky, Petr A PA; Shalnova, Svetlana A SA; Meshkov, Alexey N AN; Drapkina, Oxana M OM

Publication Date: 2020-09-22

Variant appearance in text: CFTR: 3276C>A; Y1092*; rs121908761

PubMed Link: 32971794

Variant Present in the following documents:

• jpm-10-00140-s001.pdf

View BVdb publication page

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.

Emc. Pediatria

Noël, S S; Sermet-Gaudelus, I I

Publication Date: 2020-03

Variant appearance in text: CFTR: 3276C>A

PubMed Link: 32288518

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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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: Y1092X

PubMed Link: 32153386

Variant Present in the following documents:

• Main text
• fphar-10-01662.pdf

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: N/A

PubMed Link: 31678009

Variant Present in the following documents:

View BVdb publication page

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Identification of CFTR variants in Latino patients with cystic fibrosis from the Dominican Republic and Puerto Rico.

Pediatric Pulmonology

Zeiger, Andrew M AM; McGarry, Meghan E ME; Mak, Angel C Y ACY; Medina, Vivian V; Salazar, Sandra S; Eng, Celeste C; Liu, Amy K AK; Oh, Sam S SS; Nuckton, Thomas J TJ; Jain, Deepti D; Blackwell, Thomas W TW; Kang, Hyun Min HM; Abecasis, Goncalo G; Oñate, Leandra Cordero LC; Seibold, Max A MA; Burchard, Esteban G EG; Rodriguez-Santana, Jose J

Publication Date: 2020-02

Variant appearance in text: CFTR: 3276C>A; Tyr1092*

PubMed Link: 31665830

Variant Present in the following documents:

• Main text

View BVdb publication page

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Steric Inhibition of 5' UTR Regulatory Elements Results in Upregulation of Human CFTR.

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

Sasaki, Shruti S; Sun, Rachel R; Bui, Huynh-Hoa HH; Crosby, Jeff R JR; Monia, Brett P BP; Guo, Shuling S

Publication Date: 2019-10-02

Variant appearance in text: CFTR: Y1092X

PubMed Link: 31351782

Variant Present in the following documents:

• mmc2.pdf
• main.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: rs121908761

PubMed Link: 31019283

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: 3276C>A; Y1092*; rs121908761

PubMed Link: 30996306

Variant Present in the following documents:

• Main text
• 41598_2019_Article_42404.pdf

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: Y1092X

PubMed Link: 30873022

Variant Present in the following documents:

• Main text
• fphar-10-00121.pdf

View BVdb publication page

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Combination potentiator ('co-potentiator') therapy for CF caused by CFTR mutants, including N1303K, that are poorly responsive to single potentiators.

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

Phuan, Puay-Wah PW; Son, Jung-Ho JH; Tan, Joseph-Anthony JA; Li, Clarabella C; Musante, Ilaria I; Zlock, Lorna L; Nielson, Dennis W DW; Finkbeiner, Walter E WE; Kurth, Mark J MJ; Galietta, Luis J LJ; Haggie, Peter M PM; Verkman, Alan S AS

Publication Date: 2018-09

Variant appearance in text: N/A

PubMed Link: 29903467

Variant Present in the following documents:

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: 3276C>A; Tyr1092*

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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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs121908761

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Mutation-specific downregulation of CFTR2 variants by gating potentiators.

Human Molecular Genetics

Avramescu, Radu G RG; Kai, Yukari Y; Xu, Haijin H; Bidaud-Meynard, Aurélien A; Schnúr, Andrea A; Frenkiel, Saul S; Matouk, Elias E; Veit, Guido G; Lukacs, Gergely L GL

Publication Date: 2017-12-15

Variant appearance in text: N/A

PubMed Link: 29040544

Variant Present in the following documents:

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: N/A

PubMed Link: 28957316

Variant Present in the following documents:

View BVdb publication page

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The Epithelial Sodium Channel Is a Modifier of the Long-Term Nonprogressive Phenotype Associated with F508del CFTR Mutations.

American Journal Of Respiratory Cell And Molecular Biology

Agrawal, Pankaj B PB; Wang, Ruobing R; Li, Hongmei Lisa HL; Schmitz-Abe, Klaus K; Simone-Roach, Chantelle C; Chen, Jingxin J; Shi, Jiahai J; Louie, Tin T; Sheng, Shaohu S; Towne, Meghan C MC; Brainson, Christine F CF; Matthay, Michael A MA; Kim, Carla F CF; Bamshad, Michael M; Emond, Mary J MJ; Gerard, Norma P NP; Kleyman, Thomas R TR; Gerard, Craig C

Publication Date: 2017-12

Variant appearance in text: N/A

PubMed Link: 28708422

Variant Present in the following documents:

View BVdb publication page

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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: 3276C>A; Tyr1092Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.

Molecular Genetics & Genomic Medicine

Behar, Doron M DM; Inbar, Ori O; Shteinberg, Michal M; Gur, Michal M; Mussaffi, Huda H; Shoseyov, David D; Ashkenazi, Moshe M; Alkrinawi, Soliman S; Bormans, Concetta C; Hakim, Fahed F; Mei-Zahav, Meir M; Cohen-Cymberknoh, Malena M; Dagan, Adi A; Prais, Dario D; Sarouk, Ifat I; Stafler, Patrick P; Bar Aluma, Bat El BE; Akler, Gidon G; Picard, Elie E; Aviram, Micha M; Efrati, Ori O; Livnat, Galit G; Rivlin, Joseph J; Bentur, Lea L; Blau, Hannah H; Kerem, Eitan E; Singer, Amihood A

Publication Date: 2017-05

Variant appearance in text: CFTR: 3276C>A; Tyr1092*

PubMed Link: 28546993

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: Y1092X

PubMed Link: 28454512

Variant Present in the following documents:

• Main text
• 10.1177_0969141317692611.pdf

View BVdb publication page

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Molecular Analysis of Cystic Fibrosis Patients in Hungary - An Update to the Mutational Spectrum.

Journal Of Medical Biochemistry

Ivády, Gergely G; Koczok, Katalin K; Madar, Laszlo L; Gombos, Eva E; Toth, Izabella I; Gyori, Klaudia K; Balogh, István I

Publication Date: 2015-01

Variant appearance in text: CFTR: 3276C>A; Y1092X

PubMed Link: 28356823

Variant Present in the following documents:

• Main text

View BVdb publication page

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Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis.

Journal Of Inborn Errors Of Metabolism And Screening

Hendrix, Miyono M MM; Foster, Stephanie L SL; Cordovado, Suzanne K SK

Publication Date: 2016

Variant appearance in text: CFTR: 3276C>A; Y1092X

PubMed Link: 28261631

Variant Present in the following documents:

• Main text

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Achromobacter xylosoxidans infection in cystic fibrosis siblings with different outcomes: Case reports.

Respiratory Medicine Case Reports

Firmida, Mônica Cássia MC; Marques, Elizabeth Andrade EA; Leão, Robson Souza RS; Pereira, Rosana Helena Vicente RH; Rodrigues, Elenice Rosa Aguiar ER; Albano, Rodolpho Mattos RM; Folescu, Tania Wrobel TW; Bernardo, Vagner V; Daltro, Pedro P; Capone, Domenico D; Lopes, Agnaldo José AJ

Publication Date: 2017

Variant appearance in text: CFTR: Y1092X

PubMed Link: 28138423

Variant Present in the following documents:

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• main.pdf

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Poster Session Abstracts.

Pediatric Pulmonology

Publication Date: 2016-10

Variant appearance in text: CFTR: Y1092X

PubMed Link: 27653516

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Human pluripotent stem cell-derived acinar/ductal organoids generate human pancreas upon orthotopic transplantation and allow disease modelling.

Gut

Hohwieler, Meike M; Illing, Anett A; Hermann, Patrick C PC; Mayer, Tobias T; Stockmann, Marianne M; Perkhofer, Lukas L; Eiseler, Tim T; Antony, Justin S JS; Müller, Martin M; Renz, Susanne S; Kuo, Chao-Chung CC; Lin, Qiong Q; Sendler, Matthias M; Breunig, Markus M; Kleiderman, Susanne M SM; Lechel, André A; Zenker, Martin M; Leichsenring, Michael M; Rosendahl, Jonas J; Zenke, Martin M; Sainz, Bruno B; Mayerle, Julia J; Costa, Ivan G IG; Seufferlein, Thomas T; Kormann, Michael M; Wagner, Martin M; Liebau, Stefan S; Kleger, Alexander A

Publication Date: 2017-03

Variant appearance in text: CFTR: 3276C>A; Y1092*

PubMed Link: 27633923

Variant Present in the following documents:

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• gutjnl-2016-312423supp001.pdf
• gutjnl-2016-312423.pdf

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Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.

Bmc Medical Genomics

Gal, Moran M; Khermesh, Khen K; Barak, Michal M; Lin, Min M; Lahat, Hadas H; Reznik Wolf, Haike H; Lin, Michael M; Pras, Elon E; Levanon, Erez Y EY

Publication Date: 2016-05-13

Variant appearance in text: CFTR: Y1092X

PubMed Link: 27175728

Variant Present in the following documents:

• Main text
• 12920_2016_184_MOESM1_ESM.xls, sheet 1
• 12920_2016_Article_184.pdf

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Changing incidence of cystic fibrosis in Wisconsin, USA.

Pediatric Pulmonology

Parker-McGill, Katelyn K; Nugent, Melodee M; Bersie, Rachel R; Hoffman, Gary G; Rock, Michael M; Baker, Mei M; Farrell, Philip M PM; Simpson, Pippa P; Levy, Hara H

Publication Date: 2015-11

Variant appearance in text: N/A

PubMed Link: 26258862

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