Publications:

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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: 2353C>T; Arg785Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing.

Human Reproduction (Oxford, England)

van Dijk, Wanwisa W; Derks, Kasper K; Drüsedau, Marion M; Meekels, Jeroen J; Koeck, Rebekka R; Essers, Rick R; Dreesen, Joseph J; Coonen, Edith E; de Die-Smulders, Christine C; Stevens, Servi J C SJC; Brunner, Han G HG; van den Wijngaard, Arthur A; Paulussen, Aimée D C ADC; Zamani Esteki, Masoud M

Publication Date: 2022-10-31

Variant appearance in text: CFTR: 2353C>T; Arg785*

PubMed Link: 36149256

Variant Present in the following documents:

• deac208_supplementary_table_sii.xlsx, sheet 1

View BVdb publication page

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Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China.

Journal Of Medical Genetics

Shen, Yuelin Y; Tang, Xiaolei X; Chen, Qionghua Q; Xu, Hui H; Liu, Hui H; Liu, Jinrong J; Yang, Haiming H; Li, Huimin H; Zhao, Shunying S

Publication Date: 2022-07-20

Variant appearance in text: CFTR: 2353C>T; Arg785X

PubMed Link: 35858753

Variant Present in the following documents:

• jmg-2022-108501supp001.pdf

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Targeted Gene Insertion for Functional CFTR Restoration in Airway Epithelium.

Frontiers In Genome Editing

Barillà, Cristina C; Suzuki, Shingo S; Rab, Andras A; Sorscher, Eric J EJ; Davis, Brian R BR

Publication Date: 2022

Variant appearance in text: CFTR: R785X

PubMed Link: 35330693

Variant Present in the following documents:

• Main text
• fgeed-04-847645.pdf

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: 2353C>T; R785X

PubMed Link: 35086832

Variant Present in the following documents:

• ERJ-00508-2021.Supplement.pdf

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The Genetic Analysis of Cystic Fibrosis Patients With Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey.

Balkan Medical Journal

Erdoğan, Murat M; Köse, Mehmet M; Pekcan, Sevgi S; Hangül, Melih M; Balta, Burhan B; Kiraz, Aslıhan A; Akıncı Gönen, Gizem G; Zamani, Ayşe Gül AG; Yıldırım, Mahmut Selam MS; Ramaslı Gürsoy, Tuğba T; Ezgu, Fatih F; Şişmanlar Eyüpoğlu, Tuğba T; Tana Aslan, Ayse A

Publication Date: 2021-11

Variant appearance in text: CFTR: 2353C>T; rs374946172

PubMed Link: 34860163

Variant Present in the following documents:

• bmj-38-6-357.pdf

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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: rs374946172

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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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: rs374946172

PubMed Link: 34541464

Variant Present in the following documents:

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

View BVdb publication page

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Functional correction of CFTR mutations in human airway epithelial cells using adenine base editors.

Nucleic Acids Research

Krishnamurthy, Sateesh S; Traore, Soumba S; Cooney, Ashley L AL; Brommel, Christian M CM; Kulhankova, Katarina K; Sinn, Patrick L PL; Newby, Gregory A GA; Liu, David R DR; McCray, Paul B PB

Publication Date: 2021-10-11

Variant appearance in text: CFTR: R785X

PubMed Link: 34520545

Variant Present in the following documents:

• Main text
• gkab788.pdf

View BVdb publication page

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Evaluating CRISPR-based prime editing for cancer modeling and CFTR repair in organoids.

Life Science Alliance

Geurts, Maarten H MH; de Poel, Eyleen E; Pleguezuelos-Manzano, Cayetano C; Oka, Rurika R; Carrillo, Léo L; Andersson-Rolf, Amanda A; Boretto, Matteo M; Brunsveld, Jesse E JE; van Boxtel, Ruben R; Beekman, Jeffrey M JM; Clevers, Hans H

Publication Date: 2021-10

Variant appearance in text: CFTR: R785*

PubMed Link: 34373320

Variant Present in the following documents:

• Main text
• LSA-2020-00940.pdf
• LSA-2020-00940_review_history.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: 2353C>T; Arg785Ter; rs374946172

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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Prime editing - an update on the field.

Gene Therapy

Scholefield, Janine J; Harrison, Patrick T PT

Publication Date: 2021-08

Variant appearance in text: CFTR: Arg785X

PubMed Link: 34031549

Variant Present in the following documents:

• Main text
• 41434_2021_Article_263.pdf

View BVdb publication page

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On the Corner of Models and Cure: Gene Editing in Cystic Fibrosis.

Frontiers In Pharmacology

Ensinck, Marjolein M; Mottais, Angélique A; Detry, Claire C; Leal, Teresinha T; Carlon, Marianne S MS

Publication Date: 2021

Variant appearance in text: CFTR: 2353C>T; R785X

PubMed Link: 33986686

Variant Present in the following documents:

• Main text

View BVdb publication page

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Preliminary national report on cystic fibrosis epidemiology in Tunisia: the actual state of affairs.

African Health Sciences

Hamouda, Samia S; Fredj, Sondess Hadj SH; Hilioui, Sonia S; Khalsi, Fatma F; Ameur, Salma Ben SB; Bouguila, Jihene J; Boussoffara, Raoudha R; Besbes, Habib H; Ajmi, Houda H; Mattoussi, Nadia N; Messaoud, Taieb T; Mehrezi, Ahmed A; Hachicha, Mongia M; Boughamoura, Lamia L; Sfar, Mohamed Taher MT; Gueddiche, Neji N; Abroug, Saoussen S; Becheur, Saida Ben SB; Barsaoui, Sihem S; Tebib, Neji N; Samoud, Azza A; Gandoura, Najoua N; Tinsa, Faten F; Boussetta, Khadija K

Publication Date: 2020-03

Variant appearance in text: CFTR: R785X

PubMed Link: 33402933

Variant Present in the following documents:

• Main text

View BVdb publication page

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Progress and challenges in CRISPR-mediated therapeutic genome editing for monogenic diseases.

Journal Of Biomedical Research

Konishi, Colin T CT; Long, Chengzu C

Publication Date: 2020-11-27

Variant appearance in text: CFTR: 2353C>T

PubMed Link: 33402545

Variant Present in the following documents:

• Main text
• jbr-35-2-148.pdf

View BVdb publication page

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Treating Cystic Fibrosis with mRNA and CRISPR.

Human Gene Therapy

Da Silva Sanchez, Alejandro A; Paunovska, Kalina K; Cristian, Ana A; Dahlman, James E JE

Publication Date: 2020-09

Variant appearance in text: CFTR: R785X

PubMed Link: 32799680

Variant Present in the following documents:

• Main text

View BVdb publication page

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Correction of Airway Stem Cells: Genome Editing Approaches for the Treatment of Cystic Fibrosis.

Human Gene Therapy

King, Nicholas E NE; Suzuki, Shingo S; Barillà, Cristina C; Hawkins, Finn J FJ; Randell, Scott H SH; Reynolds, Susan D SD; Stripp, Barry R BR; Davis, Brian R BR

Publication Date: 2020-09

Variant appearance in text: CFTR: R785X

PubMed Link: 32741223

Variant Present in the following documents:

• Main text

View BVdb publication page

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Unusual presentation of CF in an infant.

Respiratory Medicine Case Reports

Portillo Miño, José Dario JD; Cerón Muñoz, Efrén Esteban EE

Publication Date: 2020

Variant appearance in text: CFTR: Arg785*; rs374946172

PubMed Link: 32551223

Variant Present in the following documents:

• Main text

View BVdb publication page

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Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis.

Orphanet Journal Of Rare Diseases

Liu, Keqiang K; Xu, Wenshuai W; Xiao, Meng M; Zhao, Xinyue X; Bian, Chun C; Zhang, Qianli Q; Song, Jiaxing J; Chen, Keqi K; Tian, Xinlun X; Liu, Yaping Y; Xu, Kai-Feng KF; Zhang, Xue X

Publication Date: 2020-06-15

Variant appearance in text: CFTR: 2353C>T; R785X

PubMed Link: 32539862

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1393.pdf

View BVdb publication page

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Gene Therapy for Cystic Fibrosis: Progress and Challenges of Genome Editing.

International Journal Of Molecular Sciences

Maule, Giulia G; Arosio, Daniele D; Cereseto, Anna A

Publication Date: 2020-05-30

Variant appearance in text: CFTR: R785X

PubMed Link: 32486152

Variant Present in the following documents:

• Main text
• ijms-21-03903.pdf

View BVdb publication page

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

Genes

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

Publication Date: 2020-05-15

Variant appearance in text: CFTR: 2353C>T

PubMed Link: 32429104

Variant Present in the following documents:

• Main text
• genes-11-00554.pdf

View BVdb publication page

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Highly Efficient Gene Editing of Cystic Fibrosis Patient-Derived Airway Basal Cells Results in Functional CFTR Correction.

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

Suzuki, Shingo S; Crane, Ana M AM; Anirudhan, Varada V; Barillà, Cristina C; Matthias, Nadine N; Randell, Scott H SH; Rab, Andras A; Sorscher, Eric J EJ; Kerschner, Jenny L JL; Yin, Shiyi S; Harris, Ann A; Mendel, Matthew M; Kim, Kenneth K; Zhang, Lei L; Conway, Anthony A; Davis, Brian R BR

Publication Date: 2020-07-08

Variant appearance in text: CFTR: R785X

PubMed Link: 32402246

Variant Present in the following documents:

• Main text

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: CFTR: 2353C>T; Arg785*; rs374946172

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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: Arg785Ter

PubMed Link: 29663716

Variant Present in the following documents:

• Main text
• MGG3-6-134.pdf

View BVdb publication page

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Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis.

Bmc Medical Genomics

Ivanov, Maxim M; Matsvay, Alina A; Glazova, Olga O; Krasovskiy, Stanislav S; Usacheva, Mariya M; Amelina, Elena E; Chernyak, Aleksandr A; Ivanov, Mikhail M; Musienko, Sergey S; Prodanov, Timofey T; Kovalenko, Sergey S; Baranova, Ancha A; Khafizov, Kamil K

Publication Date: 2018-02-13

Variant appearance in text: CFTR: 2353C>T; R785*

PubMed Link: 29504914

Variant Present in the following documents:

• Main text
• 12920_2018_Article_328.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: Arg785*

PubMed Link: 29497617

Variant Present in the following documents:

• Main text

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: rs374946172

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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Distinct molecular profile of diffuse cerebellar gliomas.

Acta Neuropathologica

Nomura, Masashi M; Mukasa, Akitake A; Nagae, Genta G; Yamamoto, Shogo S; Tatsuno, Kenji K; Ueda, Hiroki H; Fukuda, Shiro S; Umeda, Takayoshi T; Suzuki, Tomonari T; Otani, Ryohei R; Kobayashi, Keiichi K; Maruyama, Takashi T; Tanaka, Shota S; Takayanagi, Shunsaku S; Nejo, Takahide T; Takahashi, Satoshi S; Ichimura, Koichi K; Nakamura, Taishi T; Muragaki, Yoshihiro Y; Narita, Yoshitaka Y; Nagane, Motoo M; Ueki, Keisuke K; Nishikawa, Ryo R; Shibahara, Junji J; Aburatani, Hiroyuki H; Saito, Nobuhito N

Publication Date: 2017-12

Variant appearance in text: CFTR: R785X

PubMed Link: 28852847

Variant Present in the following documents:

• 401_2017_1771_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.

Molecular Genetics & Genomic Medicine

Trujillano, Daniel D; Weiss, Maximilian E R ME; Köster, Julia J; Papachristos, Efstathios B EB; Werber, Martin M; Kandaswamy, Krishna Kumar KK; Marais, Anett A; Eichler, Sabrina S; Creed, Jenny J; Baysal, Erol E; Jaber, Iqbal Yousuf IY; Mehaney, Dina Ahmed DA; Farra, Chantal C; Rolfs, Arndt A

Publication Date: 2015-09

Variant appearance in text: CFTR: 2353C>T; R785*; rs374946172

PubMed Link: 26436105

Variant Present in the following documents:

• Main text
• mgg30003-0396.pdf

View BVdb publication page

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p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study.

European Journal Of Human Genetics : Ejhg

René, Céline C; Paulet, Damien D; Girodon, Emmanuelle E; Costa, Catherine C; Lalau, Guy G; Leclerc, Julie J; Cabet-Bey, Faïza F; Bienvenu, Thierry T; Blayau, Martine M; Iron, Albert A; Mittre, Hervé H; Feldmann, Delphine D; Guittard, Caroline C; Claustres, Mireille M; Georges, Marie des Md

Publication Date: 2011-01

Variant appearance in text: CFTR: Arg785X

PubMed Link: 20717170

Variant Present in the following documents:

• Main text

View BVdb publication page

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