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Filters: Keyword is Phenotype [Clear All Filters]
Electronic health record phenotypes associated with genetically regulated expression of CFTR and application to cystic fibrosis. Genet Med 22, 1191-1200 (2020).
Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal Cortex. Cell Rep 31, 107489 (2020).
Methods for the Analysis and Interpretation for Rare Variants Associated with Complex Traits. Curr Protoc Hum Genet 101, e83 (2019).
Disentangling selection on genetically correlated polygenic traits via whole-genome genealogies. Am J Hum Genet 108, 219-239 (2021).
Weighted pseudolikelihood for SNP set analysis with multiple secondary outcomes in case-control genetic association studies. Biometrics 73, 1210-1220 (2017).
A cross-population atlas of genetic associations for 220 human phenotypes. Nat Genet 53, 1415-1424 (2021).
Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort. Epilepsia 61, 249-258 (2020).
A fast and scalable framework for large-scale and ultrahigh-dimensional sparse regression with application to the UK Biobank. PLoS Genet 16, e1009141 (2020).
An ancestry-based approach for detecting interactions. Genet Epidemiol 42, 49-63 (2018).
Multiple phenotype association tests using summary statistics in genome-wide association studies. Biometrics 74, 165-175 (2018).
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals. Am J Hum Genet 108, 965-982 (2021).
Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study. Nat Commun 9, 1612 (2018).
Assessing Digital Phenotyping to Enhance Genetic Studies of Human Diseases. Am J Hum Genet 106, 611-622 (2020).
A Robust Method Uncovers Significant Context-Specific Heritability in Diverse Complex Traits. Am J Hum Genet 106, 71-91 (2020).
Adjusting for Principal Components of Molecular Phenotypes Induces Replicating False Positives. Genetics 211, 1179-1189 (2019).
A brief history of human disease genetics. Nature 577, 179-189 (2020).
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns. Science 359, 1233-1239 (2018).
Covariate selection for association screening in multiphenotype genetic studies. Nat Genet 49, 1789-1795 (2017).
Graphical analysis for phenome-wide causal discovery in genotyped population-scale biobanks. Nat Commun 12, 350 (2021).