Publications:

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Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters

Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV

Publication Date: 2023-02

Variant appearance in text: CFTR: 853A>T; I285F

PubMed Link: 36644153

Variant Present in the following documents:

• Supplementary_Data5.xlsx, sheet 1

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: CFTR: I285F; rs151073129

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

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: rs151073129

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: rs151073129

PubMed Link: 34541464

Variant Present in the following documents:

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

View BVdb publication page

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Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive CFTR Genotyping Needed?

Genes

Mekki, Chadia C; Aissat, Abdel A; Mirlesse, Véronique V; Mayer Lacrosniere, Sophie S; Eche, Elsa E; Le Floch, Annick A; Whalen, Sandra S; Prud'Homme, Cecile C; Remus, Christelle C; Funalot, Benoit B; Castaigne, Vanina V; Fanen, Pascale P; de Becdelièvre, Alix A

Publication Date: 2021-04-29

Variant appearance in text: CFTR: 853A>T; I285F; rs151073129

PubMed Link: 33946859

Variant Present in the following documents:

• Main text

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: 853A>T; Ile285Phe; rs151073129

PubMed Link: 32026723

Variant Present in the following documents:

• Main text
• 0256-4947.2020.15.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: 853A>T; I285F; rs151073129

PubMed Link: 30996306

Variant Present in the following documents:

• Main text
• 41598_2019_Article_42404.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: rs151073129

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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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: CFTR: I285F

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

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Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.

The Journal Of Molecular Diagnostics : Jmd

Schrijver, Iris I; Ramalingam, Sudha S; Sankaran, Ramalingam R; Swanson, Steve S; Dunlop, Charles L M CL; Keiles, Steven S; Moss, Richard B RB; Oehlert, John J; Gardner, Phyllis P; Wassman, E Robert ER; Kammesheidt, Anja A

Publication Date: 2005-05

Variant appearance in text: CFTR: I285F

PubMed Link: 15858154

Variant Present in the following documents:

• Main text

View BVdb publication page

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