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Genetic Epidemiology, ISSN 0741-0395, 10/2018, Volume 42, Issue 7, pp. 590 - 607
Journal Article
Frontiers in Genetics, ISSN 1664-8021, 05/2018, Volume 9, Issue MAY, p. 177
Risk prediction models can translate genetic association findings for clinical decision-making. Most models are evaluated on their ability to discriminate, and... 
Extreme risk | Goodness-of-fit | Cox proportional hazards model | Prediction | Calibration tests | cox proportional hazards model | RESIDUALS | DISEASE | GENETICS & HEREDITY | prediction | extreme risk | calibration tests | goodness-of-fit | Decision-making | Diabetes | Methods | Risk factors
Journal Article
Frontiers in Pharmacology, ISSN 1663-9812, 07/2018, Volume 9, p. 828
Ivacaftor is a drug used to treat cystic fibrosis (CF) patients carrying specific gating CFTR mutations. Interpatient variability in the lung response has been... 
Individualized medicine | Ivacaftor | Pharmacogenetic | Lung | Cystic fibrosis | Gene modifier | SLC26A9 | CONDUCTANCE | EFFICACY | VARIANTS | SAFETY | individualized medicine | gene modifier | EQUATIONS | ivacaftor | CFTR POTENTIATOR | pharmacogenetic | FAMILY | lung | G551D MUTATION | cystic fibrosis | DISEASE | PHARMACOLOGY & PHARMACY | SEVERITY | Care and treatment | Genetic aspects | Genes
Journal Article
by Yuen, Ryan K C and Merico, Daniele and Bookman, Matt and Howe, Jennifer L and Thiruvahinapuram, Bhooma and Patel, Rohan V and Whitney, Joe and Deflaux, Nicole and Bingham, Jonathan and Wang, Zhuozhi and Pellecchia, Giovanna and Buchanan, Janet A and Walker, Susan and Marshall, Christian R and Uddin, Mohammed and Zarrei, Mehdi and Deneault, Eric and D'Abate, Lia and Chan, Ada J S and Koyanagi, Stephanie and Paton, Tara and Pereira, Sergio L and Hoang, Ny and Engchuan, Worrawat and Higginbotham, Edward J and Ho, Karen and Lamoureux, Sylvia and Li, Weili and MacDonald, Jeffrey R and Nalpathamkalam, Thomas and Sung, Wilson W L and Tsoi, Fiona J and Wei, John and Xu, Lizhen and Tasse, Anne Marie and Kirby, Emily and Van Etten, William and Twigger, Simon and Roberts, Wendy and ic, Irene and Jilderda, Sanne and Modi, Bonnie Mackinnon and Kellam, Barbara and Szego, Michael and Cytrynbaum, Cheryl and Weksberg, Rosanna and Zwaigenbaum, Lonnie and Woodbury-Smith, Marc and Brian, Jessica and Senman, Lili and Iaboni, Alana and Doyle-Thomas, Krissy and Thompson, Ann and Chrysler, Christina and Leef, Jonathan and Savion-Lemieux, Tal and Smith, Isabel M and Liu, Xudong and Nicolson, Rob and Seifer, Vicki and Fedele, Angie and Cook, Edwin H and Dager, Stephen and Estes, Annette and Gallagher, Louise and Malow, Beth A and Parr, Jeremy R and Spence, Sarah J and Vorstman, Jacob|info:eu-repo/dai/nl/304817023 and Frey, Brendan J and Robinson, James T and Strug, Lisa J and Fernandez, Bridget A and Elsabbagh, Mayada and Carter, Melissa T and Hallmayer, Joachim and Knoppers, Bartha M and Anagnostou, Evdokia and Szatmari, Peter and Ring, Robert H and Glazer, David and Pletcher, Mathew T and Scherer, Stephen W
Nature Neuroscience, ISSN 1097-6256, 03/2017, Volume 20, Issue 4, pp. 602 - 611
Journal Article
Journal Article
Bioinformatics, ISSN 1367-4803, 10/2019
Journal Article
Annals of Clinical and Translational Neurology, ISSN 2328-9503, 04/2017, Volume 4, Issue 4, pp. 278 - 280
In their letter to the editor they question the evidence for association with RE [sic], they conjecture that the association is due to inadequately accounted... 
RISK | MYOPIA | NEUROSCIENCES | CLINICAL NEUROLOGY | DISEASE | Hypothesis testing | Genotype & phenotype | MicroRNAs | Epilepsy | Conflicts of interest | Population | Genetics | Genomes | Binding sites
Journal Article
Nature Genetics, ISSN 1061-4036, 06/2011, Volume 43, Issue 6, pp. 539 - 546
Journal Article
American Journal of Respiratory and Critical Care Medicine, ISSN 1073-449X, 01/2018, Volume 197, Issue 1, pp. 79 - 93
Rationale: The severity of cystic fibrosis (CF) lung disease varies widely, even for Phe508del homozygotes. Heritability studies show that more than 50% of the... 
Cystic fibrosis | Genome-wide association study | Genome | Epithelia | Transcriptome | EHF | transcriptome | HERITABILITY | genome | RESPIRATORY SYSTEM | cystic fibrosis | INFLAMMATION | genome-wide association study | GENE-EXPRESSION | WIDE ASSOCIATION | 11P13 | epithelia | REVEALS | CRITICAL CARE MEDICINE | Studies | Enzymes | Lung diseases | Genomics | Mortality | Genomes | Inflammation | Mutation | Gene expression | Asthma | Apoptosis | Original
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 08/2018, Volume 27, Issue R2, pp. R173 - R186
Abstract Despite hope that a cure was imminent when the causative gene was cloned nearly 30 years ago, cystic fibrosis (CF [MIM: 219700]) remains a... 
TRANSEPITHELIAL ION-TRANSPORT | RESIDUAL-FUNCTION | NEBULIZED AMILORIDE | ACTIVATED CHLORIDE CHANNEL | CFTR EXPRESSION | TEZACAFTOR-IVACAFTOR | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | LUNG-DISEASE | EPITHELIAL SODIUM-CHANNEL | LOOPING INTERACTIONS | REGULATORY ELEMENTS | Invited Reviews
Journal Article