Publications:

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The CFTR Gene Germline Heterozygous Pathogenic Variants in Russian Patients with Malignant Neoplasms and Healthy Carriers: 11,800 WGS Results.

International Journal Of Molecular Sciences

Makarova, Maria M; Nemtsova, Marina M; Danishevich, Anastasiia A; Chernevskiy, Denis D; Belenikin, Maxim M; Krinitsina, Anastasiia A; Baranova, Elena E; Sagaydak, Olesya O; Vorontsova, Maria M; Khatkov, Igor I; Zhukova, Lyudmila L; Bodunova, Natalia N; Nikolaev, Sergey S; Byakhova, Mariya M; Semenova, Anna A; Galkin, Vsevolod V; Gadzhieva, Saida S

Publication Date: 2023-04-27

Variant appearance in text: CFTR: 3929G>A; Trp1310Ter; rs397508645

PubMed Link: 37175647

Variant Present in the following documents:

• ijms-24-07940.pdf

View BVdb publication page

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Magnetic resonance imaging detects onset and association with lung disease severity of bronchial artery dilatation in cystic fibrosis.

Erj Open Research

Leutz-Schmidt, Patricia P; Optazaite, Daiva-Elzbieta DE; Sommerburg, Olaf O; Eichinger, Monika M; Wege, Sabine S; Steinke, Eva E; Graeber, Simon Y SY; Puderbach, Michael U MU; Schenk, Jens-Peter JP; Alrajab, Abdulsattar A; Triphan, Simon M F SMF; Kauczor, Hans-Ulrich HU; Stahl, Mirjam M; Mall, Marcus A MA; Wielpütz, Mark O MO

Publication Date: 2023-03

Variant appearance in text: CFTR: W1310X

PubMed Link: 37009019

Variant Present in the following documents:

• 00473-2022.SUPPLEMENT.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: 3929G>A; Trp1310Ter

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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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: 3929G>A; rs397508645

PubMed Link: 34860163

Variant Present in the following documents:

• bmj-38-6-357.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: 3929G>A

PubMed Link: 32429104

Variant Present in the following documents:

• Main text
• genes-11-00554.pdf

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: 3929G>A; W1310*; rs397508645

PubMed Link: 30996306

Variant Present in the following documents:

• Main text
• 41598_2019_Article_42404.pdf

View BVdb publication page

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From somatic variants towards precision oncology: Evidence-driven reporting of treatment options in molecular tumor boards.

Genome Medicine

Perera-Bel, Júlia J; Hutter, Barbara B; Heining, Christoph C; Bleckmann, Annalen A; Fröhlich, Martina M; Fröhling, Stefan S; Glimm, Hanno H; Brors, Benedikt B; Beißbarth, Tim T

Publication Date: 2018-03-15

Variant appearance in text: CFTR: W1310X

PubMed Link: 29544535

Variant Present in the following documents:

• 13073_2018_529_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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What can the CF registry tell us about rare CFTR-mutations? A Belgian study.

Orphanet Journal Of Rare Diseases

De Wachter, E E; Thomas, M M; Wanyama, S S SS; Seneca, S S; Malfroot, A A

Publication Date: 2017-08-22

Variant appearance in text: CFTR: W1310X

PubMed Link: 28830496

Variant Present in the following documents:

• Main text
• 13023_2017_Article_694.pdf

View BVdb publication page

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