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: 1911del; Gln637fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Molecular targets for cystic fibrosis and therapeutic potential of monoclonal antibodies.

Saudi Pharmaceutical Journal : Spj : The Official Publication Of The Saudi Pharmaceutical Society

Moni, Sivakumar S SS; Al Basheer, Asmaa A

Publication Date: 2022-12

Variant appearance in text: CFTR: 1911delG

PubMed Link: 36601503

Variant Present in the following documents:

• Main text
• main.pdf

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The first report on CFTR mutations of meconium ileus in cystic fibrosis population in Saudi Arabia: A single center review.

International Journal Of Pediatrics & Adolescent Medicine

Banjar, Hanaa H; Qeretli, Raef R; Ramadan, Ali A; Al-Ibraheem, Abdullah A; Bnatig, Fahad F

Publication Date: 2022-03

Variant appearance in text: CFTR: 1911delG; Gln637Hisfs; rs1554389296

PubMed Link: 35573065

Variant Present in the following documents:

• Main text
• main.pdf

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Reporting Two Novel Mutations in Two Iranian Families with Cystic Fibrosis, Molecular and Bioinformatic Analysis

Iranian Biomedical Journal

Hosseini Nami, Amin A; Kabiri, Mahboubeh M; Zeinali, Sirous S

Publication Date: 2022-11-01

Variant appearance in text: CFTR: 1911delG; Gln637Hisfs

PubMed Link: 35468710

Variant Present in the following documents:

• Main text
• ibj-26-398.pdf

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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: 1911delG; Q637fs

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: 1911delG

PubMed Link: 35086832

Variant Present in the following documents:

• ERJ-00508-2021.Supplement.pdf

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First report of the cystic fibrosis transmembrane conductance regulator mutation c.1521_1523delCTT (p. Phe508del) in two Qatari patients with cystic fibrosis.

Qatar Medical Journal

AbdulWahab, Atqah A; AlNaimi, Amal A; Habra, Basel B; Janahi, Ibrahim I

Publication Date: 2021

Variant appearance in text: CFTR: 1911delG; Gln637HisfsX26

PubMed Link: 34377682

Variant Present in the following documents:

• Main text
• qmj-2021-02-024.pdf

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Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia.

International Journal Of Pediatrics & Adolescent Medicine

Banjar, Hanaa H; Al-Mogarri, Ibrahim I; Nizami, Imran I; Al-Haider, Sami S; AlMaghamsi, Talal T; Alkaf, Sara S; Al-Enazi, Abdulaziz A; Moghrabi, Nabil N

Publication Date: 2021-03

Variant appearance in text: CFTR: 1911delG; Gln637Hisfs; rs1554389296

PubMed Link: 33718573

Variant Present in the following documents:

• Main text
• main.pdf

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Serum-Based Proteomics Profiling in Adult Patients with Cystic Fibrosis.

International Journal Of Molecular Sciences

Benabdelkamel, Hicham H; Alamri, Hanadi H; Okla, Meshail M; Masood, Afshan A; Abdel Jabar, Mai M; Alanazi, Ibrahim O IO; Alfadda, Assim A AA; Nizami, Imran I; Dasouki, Majed M; Abdel Rahman, Anas M AM

Publication Date: 2020-10-08

Variant appearance in text: CFTR: Q637HfsX26

PubMed Link: 33050003

Variant Present in the following documents:

• Main text

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: 1911delG; Gln637Hisfs*26

PubMed Link: 32971794

Variant Present in the following documents:

• jpm-10-00140-s001.pdf

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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: 1911delG

PubMed Link: 32429104

Variant Present in the following documents:

• Main text
• genes-11-00554.pdf

View BVdb publication page

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Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.

Annals Of Saudi Medicine

Banjar, Hanaa Hasan HH; Tuleimat, Lin L; El Seoudi, Abdul Aziz Agha AAA; Mogarri, Ibrahim I; Alhaider, Sami S; Nizami, Imran Yaqoob IY; AlMaghamsi, Talal T; Alkaf, Sara Andulrahman SA; Moghrabi, Nabil N

Publication Date: 2020

Variant appearance in text: CFTR: 1911delG; Gln637Hisfs; rs1554389296

PubMed Link: 32026723

Variant Present in the following documents:

• Main text
• 0256-4947.2020.15.pdf

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: 1911delG

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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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: 1911delG

PubMed Link: 29504914

Variant Present in the following documents:

• Main text
• 12920_2018_Article_328.pdf

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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: 1911delG; Gln637Hisfs*26

PubMed Link: 28546993

Variant Present in the following documents:

• Main text

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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: 1911del

PubMed Link: 26436105

Variant Present in the following documents:

• Main text

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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology

,

Publication Date: 2015-06-26

Variant appearance in text: CFTR: 1911delG; Q637fs

PubMed Link: 26112015

Variant Present in the following documents:

• 13059_2015_693_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Arab gene geography: From population diversities to personalized medical genomics.

Global Cardiology Science & Practice

Tadmouri, Ghazi O GO; Sastry, Konduru S KS; Chouchane, Lotfi L

Publication Date: 2014

Variant appearance in text: CFTR: 1911delG

PubMed Link: 25780794

Variant Present in the following documents:

• Main text
• gcsp-2014-054.pdf

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The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model.

The Journal Of Molecular Diagnostics : Jmd

Farkas, Daniel H DH; Miltgen, Nicholas E NE; Stoerker, Jay J; van den Boom, Dirk D; Highsmith, W Edward WE; Cagasan, Lesley L; McCullough, Ron R; Mueller, Reinhold R; Tang, Lin L; Tynan, John J; Tate, Courtney C; Bombard, Allan A

Publication Date: 2010-09

Variant appearance in text: CFTR: 1911delG

PubMed Link: 20616359

Variant Present in the following documents:

• Main text

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