Publications:

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Outcomes of children with cystic fibrosis screen positive, inconclusive diagnosis/CFTR related metabolic syndrome.

Frontiers In Pediatrics

Gunnett, Mohini A MA; Baker, Elizabeth E; Mims, Cathy C; Self, Staci T ST; Gutierrez, Hector H HH; Guimbellot, Jennifer S JS

Publication Date: 2023

Variant appearance in text: CFTR: I618T

PubMed Link: 36969284

Variant Present in the following documents:

• Main text
• fped-11-1127659.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: 1853T>C; Ile618Thr

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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Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis.

Children (Basel, Switzerland)

Conti, Jessica J; Sorio, Claudio C; Melotti, Paola P

Publication Date: 2022-12-20

Variant appearance in text: CFTR: I618T

PubMed Link: 36670555

Variant Present in the following documents:

• children-10-00004.pdf

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: rs139468767

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: rs139468767

PubMed Link: 34541464

Variant Present in the following documents:

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

View BVdb publication page

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Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.

Human Mutation

Nykamp, Keith K; Truty, Rebecca R; Riethmaier, Darlene D; Wilkinson, Julia J; Bristow, Sara L SL; Aguilar, Sienna S; Neitzel, Dana D; Faulkner, Nicole N; Aradhya, Swaroop S

Publication Date: 2021-09

Variant appearance in text: CFTR: 1853T>C; Ile618Thr

PubMed Link: 34196078

Variant Present in the following documents:

• HUMU-42-1165-s002.xlsx, sheet 1

View BVdb publication page

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Clinical and molecular characterization of the R751L-CFTR mutation.

American Journal Of Physiology. Lung Cellular And Molecular Physiology

Haq, Iram J IJ; Althaus, Mike M; Gardner, Aaron Ions AI; Yeoh, Hui Ying HY; Joshi, Urjita U; Saint-Criq, Vinciane V; Verdon, Bernard B; Townshend, Jennifer J; O'Brien, Christopher C; Ben-Hamida, Mahfud M; Thomas, Matthew M; Bourke, Stephen S; van der Sluijs, Peter P; Braakman, Ineke I; Ward, Chris C; Gray, Michael A MA; Brodlie, Malcolm M

Publication Date: 2021-02-01

Variant appearance in text: CFTR: I618T

PubMed Link: 33296276

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical and molecular characterization of the R751L-CFTR mutation.

American Journal Of Physiology. Lung Cellular And Molecular Physiology

Haq, Iram J IJ; Althaus, Mike M; Gardner, Aaron Ions AI; Yeoh, Hui Ying HY; Joshi, Urjita U; Saint-Criq, Vinciane V; Verdon, Bernard B; Townshend, Jennifer J; O'Brien, Christopher C; Ben-Hamida, Mahfud M; Thomas, Matthew M; Bourke, Stephen S; van der Sluijs, Peter P; Braakman, Ineke I; Ward, Chris C; Gray, Michael A MA; Brodlie, Malcolm M

Publication Date: 2021-02-01

Variant appearance in text: CFTR: I618T

PubMed Link: 33296276

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: CFTR: I618T

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Westemeyer, Maggie M; Saucier, Jennifer J; Wallace, Jody J; Prins, Sarah A SA; Shetty, Aparna A; Malhotra, Meenakshi M; Demko, Zachary P ZP; Eng, Christine M CM; Weckstein, Louis L; Boostanfar, Robert R; Rabinowitz, Matthew M; Benn, Peter P; Keen-Kim, Dianne D; Billings, Paul P

Publication Date: 2020-08

Variant appearance in text: CFTR: 1853T>C; I618T

PubMed Link: 32366966

Variant Present in the following documents:

• Main text
• 41436_2020_Article_807.pdf

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: CFTR: 1853T>C; I618T

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

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: 1853T>C; I618T

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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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: 1853T>C; I618T; rs139468767

PubMed Link: 30996306

Variant Present in the following documents:

• Main text
• 41598_2019_Article_42404.pdf

View BVdb publication page

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Nasospheroids permit measurements of CFTR-dependent fluid transport.

Jci Insight

Guimbellot, Jennifer S JS; Leach, Justin M JM; Chaudhry, Imron G IG; Quinney, Nancy L NL; Boyles, Susan E SE; Chua, Michael M; Aban, Inmaculada I; Jaspers, Ilona I; Gentzsch, Martina M

Publication Date: 2017-11-16

Variant appearance in text: CFTR: I618T

PubMed Link: 29202459

Variant Present in the following documents:

• Main text

View BVdb publication page

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Thirty Years of Sweat Chloride Testing at One Referral Center.

Frontiers In Pediatrics

Faria, Alethéa Guimarães AG; Marson, Fernando Augusto Lima FAL; Gomez, Carla Cristina Souza CCS; Servidoni, Maria de Fátima MF; Ribeiro, Antônio Fernando AF; Ribeiro, José Dirceu JD

Publication Date: 2017

Variant appearance in text: CFTR: I618T

PubMed Link: 29124052

Variant Present in the following documents:

• Main text
• fped-05-00222.pdf

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: CFTR: 1853T>C; Ile618Thr; rs139468767

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

View BVdb publication page

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Detection of CFTR function and modulation in primary human nasal cell spheroids.

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

Brewington, John J JJ; Filbrandt, Erin T ET; LaRosa, F J FJ; Ostmann, Alicia J AJ; Strecker, Lauren M LM; Szczesniak, Rhonda D RD; Clancy, John P JP

Publication Date: 2018-01

Variant appearance in text: CFTR: I618T

PubMed Link: 28712885

Variant Present in the following documents:

• Main text

View BVdb publication page

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Quality of sweat test (ST) based on the proportion of sweat sodium (Na) and sweat chloride (Cl) as diagnostic parameter of cystic fibrosis: are we on the right way?

Diagnostic Pathology

Faria, Alethéa Guimarães AG; Marson, Fernando Augusto Lima FA; Gomez, Carla Cristina de Souza CC; Ribeiro, Maria Ângela Gonçalves de Oliveira MÂ; Morais, Lucas Brioschi LB; Servidoni, Maria de Fátima MF; Bertuzzo, Carmen Sílvia CS; Sakano, Eulália E; Goto, Maura M; Paschoal, Ilma Aparecida IA; Pereira, Mônica Corso MC; Hessel, Gabriel G; Levy, Carlos Emílio CE; Toro, Adyléia Aparecida Dalbo Contrera AA; Peixoto, Andressa Oliveira AO; Simões, Maria Cristina Ribeiro MC; Lomazi, Elizete Aparecida EA; Nogueira, Roberto José Negrão RJ; Ribeiro, Antônio Fernando AF; Ribeiro, José Dirceu JD

Publication Date: 2016-10-26

Variant appearance in text: CFTR: I618T

PubMed Link: 27784314

Variant Present in the following documents:

• Main text
• 13000_2016_Article_555.pdf

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: CFTR: I618T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Measurements of CFTR-mediated Cl- secretion in human rectal biopsies constitute a robust biomarker for Cystic Fibrosis diagnosis and prognosis.

Plos One

Sousa, Marisa M; Servidoni, Maria F MF; Vinagre, Adriana M AM; Ramalho, Anabela S AS; Bonadia, Luciana C LC; Felício, Verónica V; Ribeiro, Maria A MA; Uliyakina, Inna I; Marson, Fernando A FA; Kmit, Arthur A; Cardoso, Silvia R SR; Ribeiro, José D JD; Bertuzzo, Carmen S CS; Sousa, Lisete L; Kunzelmann, Karl K; Ribeiro, Antônio F AF; Amaral, Margarida D MD

Publication Date: 2012

Variant appearance in text: CFTR: I618T

PubMed Link: 23082198

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms in ADRB2 gene can modulate the response to bronchodilators and the severity of cystic fibrosis.

Bmc Pulmonary Medicine

Marson, Fernando A L FA; Bertuzzo, Carmen S CS; Ribeiro, Antônio F AF; Ribeiro, José D JD

Publication Date: 2012-09-05

Variant appearance in text: CFTR: I618T

PubMed Link: 22950544

Variant Present in the following documents:

• Main text
• 1471-2466-12-50.pdf

View BVdb publication page

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Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.

The Journal Of Molecular Diagnostics : Jmd

Schrijver, Iris I; Oitmaa, Eneli E; Metspalu, Andres A; Gardner, Phyllis P

Publication Date: 2005-08

Variant appearance in text: CFTR: I618T

PubMed Link: 16049310

Variant Present in the following documents:

• Main text

View BVdb publication page

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