Found: 52
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A Distributed Whole Genome Sequencing Benchmark Study.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.612515
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- Publication type:
- Article
Genetic Modifiers of Cystic Fibrosis-Related Diabetes Have Extensive Overlap With Type 2 Diabetes and Related Traits.
- Published in:
- 2019
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- Publication type:
- journal article
ELP4 in rolandic epilepsy and BRD2 in juvenile myoclonic epilepsy.
- Published in:
- Epilepsia (Series 4), 2010, v. 51, p. 73, doi. 10.1111/j.1528-1167.2010.02859.x
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- Publication type:
- Article
Evidence of shared genetic risk factors for migraine and rolandic epilepsy.
- Published in:
- Epilepsia (Series 4), 2009, v. 50, n. 11, p. 2428, doi. 10.1111/j.1528-1167.2009.02240.x
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- Publication type:
- Article
Attention impairment in rolandic epilepsy: Systematic review.
- Published in:
- Epilepsia (Series 4), 2008, v. 49, n. 9, p. 1570, doi. 10.1111/j.1528-1167.2008.01610.x
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- Publication type:
- Article
Evaluating candidate genes in common epilepsies and the nature of evidence.
- Published in:
- Epilepsia (Series 4), 2008, v. 49, n. 3, p. 386, doi. 10.1111/j.1528-1167.2007.01416.x
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- Publication type:
- Article
Autosomal Dominant Inheritance of Centrotemporal Sharp Waves in Rolandic Epilepsy Families.
- Published in:
- Epilepsia (Series 4), 2007, v. 48, n. 12, p. 2266, doi. 10.1111/j.1528-1167.2007.01221.x
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- Publication type:
- Article
High Risk of Reading Disability and Speech Sound Disorder in Rolandic Epilepsy Families: Case–Control Study.
- Published in:
- Epilepsia (Series 4), 2007, v. 48, n. 12, p. 2258, doi. 10.1111/j.1528-1167.2007.01276.x
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- Publication type:
- Article
Statistical power in COVID-19 case-control host genomic study design.
- Published in:
- Genome Medicine, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13073-020-00818-2
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- Publication type:
- Article
Annotation of nuclear lncRNAs based on chromatin interactions.
- Published in:
- PLoS ONE, 2024, v. 19, n. 5, p. 1, doi. 10.1371/journal.pone.0295971
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- Publication type:
- Article
Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.
- Published in:
- Nature Genetics, 2011, v. 43, n. 6, p. 539, doi. 10.1038/ng.838
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- Publication type:
- Article
A novel lung disease phenotype adjusted for mortality attrition for cystic fibrosis Genetic modifier studies.
- Published in:
- Pediatric Pulmonology, 2011, v. 46, n. 9, p. 857, doi. 10.1002/ppul.21456
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- Publication type:
- Article
Disease severity in siblings with cystic fibrosis.
- Published in:
- Pediatric Pulmonology, 2004, v. 37, n. 5, p. 407, doi. 10.1002/ppul.20007
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- Publication type:
- Article
Genome‐wide association study of word reading: Overlap with risk genes for neurodevelopmental disorders.
- Published in:
- Genes, Brain & Behavior, 2020, v. 19, n. 6, p. 1, doi. 10.1111/gbb.12648
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- Publication type:
- Article
The Genetics of Reading Disability in an Often Excluded Sample: Novel Loci Suggested for Reading Disability in Rolandic Epilepsy.
- Published in:
- PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0040696
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- Publication type:
- Article
Airway Mucosal Host Defense Is Key to Genomic Regulation of Cystic Fibrosis Lung Disease Severity.
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- 2018
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- Publication type:
- journal article
Sources of Variation in Sweat Chloride Measurements in Cystic Fibrosis.
- Published in:
- 2016
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- Publication type:
- journal article
Improving imputation in disease-relevant regions: lessons from cystic fibrosis.
- Published in:
- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0047-6
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- Publication type:
- Article
A pure likelihood approach to the analysis of genetic association data: an alternative to Bayesian and frequentist analysis.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 8, p. 933, doi. 10.1038/ejhg.2010.47
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- Publication type:
- Article
Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4).
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1171, doi. 10.1038/ejhg.2008.267
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- Publication type:
- Article
Mining GWAS and eQTL data for CF lung disease modifiers by gene expression imputation.
- Published in:
- PLoS ONE, 2020, v. 15, n. 11, p. 1, doi. 10.1371/journal.pone.0239189
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- Publication type:
- Article
Polymorphisms associated with expression of BPIFA1/BPIFB1 and lung disease severity in cystic fibrosis.
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- American Journal of Respiratory Cell & Molecular Biology, 2015, v. 53, n. 5, p. E1, doi. 10.1165/rcmb.2014-0182oc
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- Publication type:
- Article
Polymorphisms Associated with Expression of BPIFA1/BPIFB1 and Lung Disease Severity in Cystic Fibrosis.
- Published in:
- American Journal of Respiratory Cell & Molecular Biology, 2015, v. 53, n. 5, p. 607, doi. 10.1165/rcmb.2014-0182OC
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- Publication type:
- Article
Immunomodulatory function of the cystic fibrosis modifier gene BPIFA1.
- Published in:
- PLoS ONE, 2020, v. 15, n. 1, p. 1, doi. 10.1371/journal.pone.0227067
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- Publication type:
- Article
Canadian COVID-19 host genetics cohort replicates known severity associations.
- Published in:
- PLoS Genetics, 2024, v. 20, n. 3, p. 1, doi. 10.1371/journal.pgen.1011192
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- Publication type:
- Article
Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19.
- Published in:
- 2021
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- Publication type:
- journal article
Reply to: Is a microRNA-328 binding site in PAX6 associated with Rolandic epilepsy?
- Published in:
- Annals of Clinical & Translational Neurology, 2017, v. 4, n. 4, p. 278, doi. 10.1002/acn3.403
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- Publication type:
- Article
Gene copy number variation and pediatric mental health/neurodevelopment in a general population.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 15, p. 2411, doi. 10.1093/hmg/ddad074
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- Publication type:
- Article
LocusFocus: Web-based colocalization for the annotation and functional follow-up of GWAS.
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- PLoS Computational Biology, 2020, v. 16, n. 10, p. 1, doi. 10.1371/journal.pcbi.1008336
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- Publication type:
- Article
Variation in prognosis and treatment outcome in juvenile myoclonic epilepsy: a Biology of Juvenile Myoclonic Epilepsy Consortium proposal for a practical definition and stratified medicine classifications.
- Published in:
- Brain Communications, 2023, v. 5, n. 3, p. 1, doi. 10.1093/braincomms/fcad182
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- Publication type:
- Article
SLC26A9 Gene Is Associated With Lung Function Response to Ivacaftor in Patients With Cystic Fibrosis.
- Published in:
- Frontiers in Pharmacology, 2018, p. N.PAG, doi. 10.3389/fphar.2018.00828
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- Publication type:
- Article
Testing Calibration of Cox Survival Models at Extremes of Event Risk.
- Published in:
- Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00177
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- Publication type:
- Article
Recent advances in developing therapeutics for cystic fibrosis.
- Published in:
- Human Molecular Genetics, 2018, v. 27, p. R173, doi. 10.1093/hmg/ddy188
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- Publication type:
- Article
Cystic fibrosis gene modifier SLC26A9 modulates airway response to CFTR-directed therapeutics.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 20, p. 4590, doi. 10.1093/hmg/ddw290
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- Publication type:
- Article
Possible Interaction Between HLA-DR β1 and Thyroglobulin Variants in Graves' Disease.
- Published in:
- Thyroid, 2006, v. 16, n. 4, p. 351, doi. 10.1089/thy.2006.16.351
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- Publication type:
- Article
Endoplasmic Reticulum Stress and Chemokine Production in Cystic Fibrosis Airway Cells: Regulation by STAT3 Modulation.
- Published in:
- 2017
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- Publication type:
- journal article
RoPE: A robust profile likelihood method for differential gene expression analysis.
- Published in:
- Genetic Epidemiology, 2023, v. 47, n. 5, p. 379, doi. 10.1002/gepi.22526
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- Publication type:
- Article
The X factor: A robust and powerful approach to X‐chromosome‐inclusive whole‐genome association studies.
- Published in:
- Genetic Epidemiology, 2021, v. 45, n. 7, p. 694, doi. 10.1002/gepi.22422
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- Publication type:
- Article
Genetic association analysis with pedigrees: Direct inference using the composite likelihood ratio.
- Published in:
- Genetic Epidemiology, 2018, v. 42, n. 8, p. 826, doi. 10.1002/gepi.22153
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- Publication type:
- Article
The evidential statistical paradigm in genetics.
- Published in:
- Genetic Epidemiology, 2018, v. 42, n. 7, p. 590, doi. 10.1002/gepi.22151
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- Publication type:
- Article
Multipoint lods provide reliable linkage evidence despite unknown limiting distribution: type I error probabilities decrease with sample size for multipoint lods and mods.
- Published in:
- Genetic Epidemiology, 2008, v. 32, n. 8, p. 800, doi. 10.1002/gepi.20350
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- Publication type:
- Article
Prioritizing Rare Variants with Conditional Likelihood Ratios.
- Published in:
- Human Heredity, 2015, v. 79, n. 1, p. 5, doi. 10.1159/000371579
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- Publication type:
- Article
Using Parametric Multipoint Lods and Mods for Linkage Analysis Requires a Shift in Statistical Thinking.
- Published in:
- Human Heredity, 2011, v. 72, n. 4, p. 264, doi. 10.1159/000331463
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- Publication type:
- Article
An Alternative Foundation for the Planning and Evaluation of Linkage Analysis.
- Published in:
- Human Heredity, 2006, v. 61, n. 4, p. 200, doi. 10.1159/000094775
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- Publication type:
- Article
An Alternative Foundation for the Planning and Evaluation of Linkage Analysis.
- Published in:
- Human Heredity, 2006, v. 61, n. 3, p. 166, doi. 10.1159/000094709
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- Publication type:
- Article
VikNGS: a C++ variant integration kit for next generation sequencing association analysis.
- Published in:
- Bioinformatics, 2020, v. 36, n. 4, p. 1283, doi. 10.1093/bioinformatics/btz716
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- Publication type:
- Article
Association analysis using next-generation sequence data from publicly available control groups: the robust variance score statistic.
- Published in:
- Bioinformatics, 2014, v. 30, n. 15, p. 2179, doi. 10.1093/bioinformatics/btu196
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- Publication type:
- Article
Language and reading impairments are associated with increased prevalence of non‐right‐handedness.
- Published in:
- Child Development, 2023, v. 94, n. 4, p. 970, doi. 10.1111/cdev.13914
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- Publication type:
- Article
Evidence for a causal relationship between early exocrine pancreatic disease and cystic fibrosis-related diabetes: a Mendelian randomization study.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Evidence for a Causal Relationship Between Early Exocrine Pancreatic Disease and Cystic Fibrosis--Related Diabetes: A Mendelian Randomization Study.
- Published in:
- Diabetes, 2014, v. 63, n. 6, p. 2114, doi. 10.2337/db13-1464
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- Publication type:
- Article