Publications:

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Post-approval studies with the CFTR modulators Elexacaftor-Tezacaftor-Ivacaftor.

Frontiers In Pharmacology

Tümmler, Burkhard B

Publication Date: 2023

Variant appearance in text: CFTR: Gln493Ter

PubMed Link: 37025483

Variant Present in the following documents:

• Main text
• fphar-14-1158207.pdf

View BVdb publication page

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Elexacaftor-Tezacaftor-Ivacaftor: A Life-Changing Triple Combination of CFTR Modulator Drugs for Cystic Fibrosis.

Pharmaceuticals (Basel, Switzerland)

Bacalhau, Mafalda M; Camargo, Mariana M; Magalhães-Ghiotto, Grace A V GAV; Drumond, Sybelle S; Castelletti, Carlos Henrique M CHM; Lopes-Pacheco, Miquéias M

Publication Date: 2023-03-08

Variant appearance in text: CFTR: Q493X

PubMed Link: 36986509

Variant Present in the following documents:

• pharmaceuticals-16-00410.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: 1477C>T; Gln493Ter

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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Genetic trajectory and clonal evolution of multiple primary lung cancer with lymph node metastasis.

Cancer Gene Therapy

Tian, He H; Wang, Yalong Y; Yang, Zhenlin Z; Chen, Ping P; Xu, Jiachen J; Tian, Yanhua Y; Fan, Tao T; Xiao, Chu C; Bai, Guangyu G; Li, Lin L; Zheng, Bo B; Li, Chunxiang C; He, Jie J

Publication Date: 2023-01-19

Variant appearance in text: CFTR: 1477C>T; Gln493Ter

PubMed Link: 36653483

Variant Present in the following documents:

• 41417_2022_572_MOESM2_ESM.xlsx, sheet 1
• 41417_2022_572_MOESM9_ESM.xlsx, sheet 2

View BVdb publication page

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Accounting for population structure in genetic studies of cystic fibrosis.

Hgg Advances

Kingston, Hanley H; Stilp, Adrienne M AM; Gordon, William W; Broome, Jai J; Gogarten, Stephanie M SM; Ling, Hua H; Barnard, John J; Dugan-Perez, Shannon S; Ellinor, Patrick T PT; Gabriel, Stacey S; Germer, Soren S; Gibbs, Richard A RA; Gupta, Namrata N; Rice, Kenneth K; Smith, Albert V AV; Zody, Michael C MC; , ; , ; Blackman, Scott M SM; Cutting, Garry G; Knowles, Michael R MR; Zhou, Yi-Hui YH; Rosenfeld, Margaret M; Gibson, Ronald L RL; Bamshad, Michael M; Fohner, Alison A; Blue, Elizabeth E EE

Publication Date: 2022-07-14

Variant appearance in text: CFTR: Q493X

PubMed Link: 35647563

Variant Present in the following documents:

• mmc1.pdf
• mmc2.pdf

View BVdb publication page

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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: 1477C>T; Q493X

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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Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell

Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K

Publication Date: 2022-03-03

Variant appearance in text: CFTR: 1477C>T; Gln493Ter; rs77101217

PubMed Link: 35176222

Variant Present in the following documents:

• mmc5.xlsx, sheet 2
• mmc5.xlsx, sheet 1
• mmc5.xlsx, sheet 3

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: 1477C>T; Q493X

PubMed Link: 35086832

Variant Present in the following documents:

• ERJ-00508-2021.Supplement.pdf

View BVdb publication page

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Burden of cystic fibrosis in children <12 years of age prior to the introduction of CFTR modulator therapies.

Bmj Open Respiratory Research

Bresnick, Kathryn K; Arteaga-Solis, Emilio E; Millar, Stefanie J SJ; Laird, Glen G; LeCamus, Cecile C

Publication Date: 2021-12

Variant appearance in text: CFTR: Q493X

PubMed Link: 34857524

Variant Present in the following documents:

• bmjresp-2021-000998supp001.pdf

View BVdb publication page

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Burden of cystic fibrosis in children <12 years of age prior to the introduction of CFTR modulator therapies.

Bmj Open Respiratory Research

Bresnick, Kathryn K; Arteaga-Solis, Emilio E; Millar, Stefanie J SJ; Laird, Glen G; LeCamus, Cecile C

Publication Date: 2021-12

Variant appearance in text: CFTR: Q493X

PubMed Link: 34857524

Variant Present in the following documents:

• bmjresp-2021-000998supp001.pdf

View BVdb publication page

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Macrophages from gut-corrected CF mice express human CFTR and lack a pro-inflammatory phenotype.

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

Gillan, Jonathan L JL; Hardisty, Gareth R GR; Davidson, Donald J DJ; Gray, Robert D RD

Publication Date: 2022-03

Variant appearance in text: CFTR: Q493X

PubMed Link: 34799297

Variant Present in the following documents:

• Main text

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: rs77101217

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: rs77101217

PubMed Link: 34541464

Variant Present in the following documents:

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

View BVdb publication page

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Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.

Pharmaceuticals (Basel, Switzerland)

Michorowska, Sylwia S

Publication Date: 2021-08-09

Variant appearance in text: CFTR: Q493X

PubMed Link: 34451881

Variant Present in the following documents:

• Main text
• pharmaceuticals-14-00785.pdf

View BVdb publication page

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Cystic fibrosis in South Africa: spectrum of disease and determinants of outcome.

Erj Open Research

Zampoli, Marco M; Verstraete, Janine J; Frauendorf, Marlize M; Kassanjee, Reshma R; Workman, Lesley L; Morrow, Brenda M BM; Zar, Heather J HJ

Publication Date: 2021-07

Variant appearance in text: CFTR: 1477C>T; Gln493X

PubMed Link: 34350279

Variant Present in the following documents:

• 00856-2020.supplement.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: 1477C>T; Gln493Ter; rs77101217

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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Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia.

International Journal Of Neonatal Screening

Sinclair, Graham G; McMahon, Vanessa V; Schellenberg, Amy A; Nelson, Tanya N TN; Chilvers, Mark M; Vallance, Hilary H

Publication Date: 2020-06

Variant appearance in text: CFTR: Q493X

PubMed Link: 33073036

Variant Present in the following documents:

• IJNS-06-00046-s001.xlsx, sheet 1

View BVdb publication page

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: CFTR: 1477C>T; Q493*

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM10_ESM.xlsx, sheet 1
• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 7

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: 1477C>T; Q493*

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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Assessment of pulmonary structure-function relationships in young children and adolescents with cystic fibrosis by multivolume proton-MRI and CT.

Journal Of Magnetic Resonance Imaging : Jmri

Pennati, Francesca F; Roach, David J DJ; Clancy, John P JP; Brody, Alan S AS; Fleck, Robert J RJ; Aliverti, Andrea A; Woods, Jason C JC

Publication Date: 2018-08

Variant appearance in text: CFTR: Q493X

PubMed Link: 29457316

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: rs77101217

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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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: 1477C>T; Gln493Ter; rs77101217

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: CFTR: 1477C>T; Gln493Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis.

Journal Of Inborn Errors Of Metabolism And Screening

Hendrix, Miyono M MM; Foster, Stephanie L SL; Cordovado, Suzanne K SK

Publication Date: 2016

Variant appearance in text: CFTR: 1477C>T; Q493X

PubMed Link: 28261631

Variant Present in the following documents:

• Main text
• nihms822513.pdf

View BVdb publication page

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Ultrashort Echo-Time Magnetic Resonance Imaging Is a Sensitive Method for the Evaluation of Early Cystic Fibrosis Lung Disease.

Annals Of The American Thoracic Society

Roach, David J DJ; Crémillieux, Yannick Y; Fleck, Robert J RJ; Brody, Alan S AS; Serai, Suraj D SD; Szczesniak, Rhonda D RD; Kerlakian, Stephanie S; Clancy, John P JP; Woods, Jason C JC

Publication Date: 2016-11

Variant appearance in text: CFTR: Q493X

PubMed Link: 27551814

Variant Present in the following documents:

• Main text

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: CFTR: 1477C>T; Q493*

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
• NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1

View BVdb publication page

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The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.

European Journal Of Human Genetics : Ejhg

Girardet, Anne A; Viart, Victoria V; Plaza, Stéphanie S; Daina, Gemma G; De Rycke, Martine M; Des Georges, Marie M; Fiorentino, Francesco F; Harton, Gary G; Ishmukhametova, Aliya A; Navarro, Joaquima J; Raynal, Caroline C; Renwick, Pamela P; Saguet, Florielle F; Schwarz, Martin M; SenGupta, Sioban S; Tzetis, Maria M; Roux, Anne-Françoise AF; Claustres, Mireille M

Publication Date: 2016-04

Variant appearance in text: CFTR: 1477C>T; Q493X

PubMed Link: 26014425

Variant Present in the following documents:

• Main text
• ejhg201599a.pdf

View BVdb publication page

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Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.

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

Baker, Mei W MW; Atkins, Anne E AE; Cordovado, Suzanne K SK; Hendrix, Miyono M; Earley, Marie C MC; Farrell, Philip M PM

Publication Date: 2016-03

Variant appearance in text: CFTR: 1477C>T; Q493X

PubMed Link: 25674778

Variant Present in the following documents:

• Main text

View BVdb publication page

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CFTR Gene Mutations and Asthma in Indian Children: A Case-Control Study.

Indian Journal Of Clinical Biochemistry : Ijcb

Dixit, Pratibha P; Awasthi, Shally S; Maurya, Nutan N; Agarwal, Sarita S; Srinivasan, M M

Publication Date: 2015-01

Variant appearance in text: CFTR: Q493X

PubMed Link: 25646039

Variant Present in the following documents:

• Main text

View BVdb publication page

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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: CFTR: 1477C>T; Q493*

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

View BVdb publication page

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Impact of heterozygote CFTR mutations in COPD patients with chronic bronchitis.

Respiratory Research

Raju, S Vamsee SV; Tate, Jody H JH; Peacock, Sandra K G SK; Fang, Ping P; Oster, Robert A RA; Dransfield, Mark T MT; Rowe, Steven M SM

Publication Date: 2014-02-11

Variant appearance in text: CFTR: Q493X

PubMed Link: 24517344

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrin α6β4 identifies human distal lung epithelial progenitor cells with potential as a cell-based therapy for cystic fibrosis lung disease.

Plos One

Li, Xiaopeng X; Rossen, Nathan N; Sinn, Patrick L PL; Hornick, Andrew L AL; Steines, Benjamin R BR; Karp, Philip H PH; Ernst, Sarah E SE; Adam, Ryan J RJ; Moninger, Thomas O TO; Levasseur, Dana N DN; Zabner, Joseph J

Publication Date: 2013

Variant appearance in text: CFTR: Q493X

PubMed Link: 24349537

Variant Present in the following documents:

• Main text
• pone.0083624.pdf

View BVdb publication page

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Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

Nature Genetics

Sosnay, Patrick R PR; Siklosi, Karen R KR; Van Goor, Fredrick F; Kaniecki, Kyle K; Yu, Haihui H; Sharma, Neeraj N; Ramalho, Anabela S AS; Amaral, Margarida D MD; Dorfman, Ruslan R; Zielenski, Julian J; Masica, David L DL; Karchin, Rachel R; Millen, Linda L; Thomas, Philip J PJ; Patrinos, George P GP; Corey, Mary M; Lewis, Michelle H MH; Rommens, Johanna M JM; Castellani, Carlo C; Penland, Christopher M CM; Cutting, Garry R GR

Publication Date: 2013-10

Variant appearance in text: rs77101217

PubMed Link: 23974870

Variant Present in the following documents:

• NIHMS512446-supplement-12.xlsx, sheet 1
• NIHMS512446-supplement-12.xlsx, sheet 2

View BVdb publication page

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A comprehensive assay for CFTR mutational analysis using next-generation sequencing.

Clinical Chemistry

Abou Tayoun, Ahmad N AN; Tunkey, Christopher D CD; Pugh, Trevor J TJ; Ross, Tristen T; Shah, Minita M; Lee, Clarence C CC; Harkins, Timothy T TT; Wells, Wendy A WA; Tafe, Laura J LJ; Amos, Christopher I CI; Tsongalis, Gregory J GJ

Publication Date: 2013-10

Variant appearance in text: CFTR: 1477C>T

PubMed Link: 23775370

Variant Present in the following documents:

• Main text

View BVdb publication page

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A microRNA network regulates expression and biosynthesis of wild-type and DeltaF508 mutant cystic fibrosis transmembrane conductance regulator.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Ramachandran, Shyam S; Karp, Philip H PH; Jiang, Peng P; Ostedgaard, Lynda S LS; Walz, Amy E AE; Fisher, John T JT; Keshavjee, Shaf S; Lennox, Kim A KA; Jacobi, Ashley M AM; Rose, Scott D SD; Behlke, Mark A MA; Welsh, Michael J MJ; Xing, Yi Y; McCray, Paul B PB

Publication Date: 2012-08-14

Variant appearance in text: CFTR: Q493X

PubMed Link: 22853952

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cystic fibrosis mutations for p.F508del compound heterozygotes predict sweat chloride levels and pancreatic sufficiency.

Clinical Genetics

Sebro, R R; Levy, H H; Schneck, K K; Dimmock, D D; Raby, B A BA; Cannon, C L CL; Broeckel, U U; Risch, N J NJ

Publication Date: 2012-12

Variant appearance in text: CFTR: Q493X

PubMed Link: 22035343

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients.

Respiratory Research

Green, Deanna M DM; McDougal, Kathryn E KE; Blackman, Scott M SM; Sosnay, Patrick R PR; Henderson, Lindsay B LB; Naughton, Kathleen M KM; Collaco, J Michael JM; Cutting, Garry R GR

Publication Date: 2010-10-08

Variant appearance in text: CFTR: Q493X

PubMed Link: 20932301

Variant Present in the following documents:

• Main text
• 1465-9921-11-140.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: Gln493X

PubMed Link: 20717170

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 1477C>T; Q493X

PubMed Link: 20616359

Variant Present in the following documents:

• Main text

View BVdb publication page

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Development of genomic reference materials for cystic fibrosis genetic testing.

The Journal Of Molecular Diagnostics : Jmd

Pratt, Victoria M VM; Caggana, Michele M; Bridges, Christina C; Buller, Arlene M AM; DiAntonio, Lisa L; Highsmith, W Edward WE; Holtegaard, Leonard M LM; Muralidharan, Kasinathan K; Rohlfs, Elizabeth M EM; Tarleton, Jack J; Toji, Lorraine L; Barker, Shannon D SD; Kalman, Lisa V LV

Publication Date: 2009-05

Variant appearance in text: CFTR: 1477C>T; Q493X

PubMed Link: 19359498

Variant Present in the following documents:

• Main text

View BVdb publication page

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The impact of cellular networks on disease comorbidity.

Molecular Systems Biology

Park, Juyong J; Lee, Deok-Sun DS; Christakis, Nicholas A NA; Barabási, Albert-László AL

Publication Date: 2009

Variant appearance in text: CFTR: GLN493TER

PubMed Link: 19357641

Variant Present in the following documents:

• msb200916-s1.pdf

View BVdb publication page

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When good CF tests go bad.

European Journal Of Human Genetics : Ejhg

McDevitt, Trudi T; Barton, David D

Publication Date: 2009-04

Variant appearance in text: CFTR: Gln493X

PubMed Link: 19050722

Variant Present in the following documents:

• Main text

View BVdb publication page

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Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

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

Castellani, C C; Cuppens, H H; Macek, M M; Cassiman, J J JJ; Kerem, E E; Durie, P P; Tullis, E E; Assael, B M BM; Bombieri, C C; Brown, A A; Casals, T T; Claustres, M M; Cutting, G R GR; Dequeker, E E; Dodge, J J; Doull, I I; Farrell, P P; Ferec, C C; Girodon, E E; Johannesson, M M; Kerem, B B; Knowles, M M; Munck, A A; Pignatti, P F PF; Radojkovic, D D; Rizzotti, P P; Schwarz, M M; Stuhrmann, M M; Tzetis, M M; Zielenski, J J; Elborn, J S JS

Publication Date: 2008-05

Variant appearance in text: CFTR: Q493X

PubMed Link: 18456578

Variant Present in the following documents:

• Main text

View BVdb publication page

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A comparative study of five technologically diverse CFTR testing platforms.

The Journal Of Molecular Diagnostics : Jmd

Johnson, Monique A MA; Yoshitomi, Marvin J MJ; Richards, C Sue CS

Publication Date: 2007-07

Variant appearance in text: CFTR: Q493X

PubMed Link: 17591940

Variant Present in the following documents:

• Main text

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: Q493X

PubMed Link: 16049310

Variant Present in the following documents:

• Main text

View BVdb publication page

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Microsphere bead arrays and sequence validation of 5/7/9T genotypes for multiplex screening of cystic fibrosis polymorphisms.

The Journal Of Molecular Diagnostics : Jmd

Hadd, Andrew G AG; Laosinchai-Wolf, Walairat W; Novak, Chris R CR; Badgett, Marty R MR; Isgur, Lesley A LA; Goldrick, Marianna M; Walkerpeach, Cindy R CR

Publication Date: 2004-11

Variant appearance in text: CFTR: Q493X

PubMed Link: 15507674

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.

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

Watson, Michael S MS; Cutting, Garry R GR; Desnick, Robert J RJ; Driscoll, Deborah A DA; Klinger, Katherine K; Mennuti, Michael M; Palomaki, Glenn E GE; Popovich, Bradley W BW; Pratt, Victoria M VM; Rohlfs, Elizabeth M EM; Strom, Charles M CM; Richards, C Sue CS; Witt, David R DR; Grody, Wayne W WW

Publication Date: 2004

Variant appearance in text: CFTR: Q493X

PubMed Link: 15371902

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Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas.

Gut

Ahmed, N N; Corey, M M; Forstner, G G; Zielenski, J J; Tsui, L-C LC; Ellis, L L; Tullis, E E; Durie, P P

Publication Date: 2003-08

Variant appearance in text: CFTR: Q493X

PubMed Link: 12865275

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Robot printing of reverse dot blot arrays for human mutation detection.

The Journal Of Molecular Diagnostics : Jmd

Lappin, S S; Cahlik, J J; Gold, B B

Publication Date: 2001-11

Variant appearance in text: CFTR: Q493X

PubMed Link: 11687602

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• Main text

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