Publications

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2020
Unlu, G. et al. Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies. Nat Med 26, 98-109 (2020).
Unlu, G. et al. Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies. Nat Med 26, 98-109 (2020).
Tcheandjieu, C. et al. A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population. PLoS Genet 16, e1008802 (2020).
Asgari, S. et al. A positively selected FBN1 missense variant reduces height in Peruvian individuals. Nature 582, 234-239 (2020).
Asgari, S. et al. A positively selected FBN1 missense variant reduces height in Peruvian individuals. Nature 582, 234-239 (2020).
Ferraro, N. M. et al. Transcriptomic signatures across human tissues identify functional rare genetic variation. Science 369, (2020).
Ferraro, N. M. et al. Transcriptomic signatures across human tissues identify functional rare genetic variation. Science 369, (2020).
Ferraro, N. M. et al. Transcriptomic signatures across human tissues identify functional rare genetic variation. Science 369, (2020).
Ferraro, N. M. et al. Transcriptomic signatures across human tissues identify functional rare genetic variation. Science 369, (2020).
Sajuthi, S. P. et al. Type 2 and interferon inflammation regulate SARS-CoV-2 entry factor expression in the airway epithelium. Nat Commun 11, 5139 (2020).
Sajuthi, S. P. et al. Type 2 and interferon inflammation strongly regulate SARS-CoV-2 related gene expression in the airway epithelium. bioRxiv (2020). doi:10.1101/2020.04.09.034454
Werling, D. M. et al. Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal Cortex. Cell Rep 31, 107489 (2020).
Werling, D. M. et al. Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal Cortex. Cell Rep 31, 107489 (2020).
Werling, D. M. et al. Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal Cortex. Cell Rep 31, 107489 (2020).
2021
Wang, X. et al. Association between Smoking History and Tumor Mutation Burden in Advanced Non-Small Cell Lung Cancer. Cancer Res 81, 2566-2573 (2021).
Sakaue, S. et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nat Genet 53, 1415-1424 (2021).
Sakaue, S. et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nat Genet 53, 1415-1424 (2021).
Sinnott-Armstrong, N. et al. Genetics of 35 blood and urine biomarkers in the UK Biobank. Nat Genet 53, 185-194 (2021).
Sinnott-Armstrong, N. et al. Genetics of 35 blood and urine biomarkers in the UK Biobank. Nat Genet 53, 185-194 (2021).
Sinnott-Armstrong, N. et al. Genetics of 35 blood and urine biomarkers in the UK Biobank. Nat Genet 53, 185-194 (2021).
Sinnott-Armstrong, N. et al. Genetics of 35 blood and urine biomarkers in the UK Biobank. Nat Genet 53, 185-194 (2021).
Amar, D., Sinnott-Armstrong, N., Ashley, E. A. & Rivas, M. A. Graphical analysis for phenome-wide causal discovery in genotyped population-scale biobanks. Nat Commun 12, 350 (2021).
Amar, D., Sinnott-Armstrong, N., Ashley, E. A. & Rivas, M. A. Graphical analysis for phenome-wide causal discovery in genotyped population-scale biobanks. Nat Commun 12, 350 (2021).
Sun, R. et al. Integration of multiomic annotation data to prioritize and characterize inflammation and immune-related risk variants in squamous cell lung cancer. Genet Epidemiol 45, 99-114 (2021).
Sun, R. et al. Integration of multiomic annotation data to prioritize and characterize inflammation and immune-related risk variants in squamous cell lung cancer. Genet Epidemiol 45, 99-114 (2021).
Sun, R. et al. Integration of multiomic annotation data to prioritize and characterize inflammation and immune-related risk variants in squamous cell lung cancer. Genet Epidemiol 45, 99-114 (2021).
Sun, R. et al. Integration of multiomic annotation data to prioritize and characterize inflammation and immune-related risk variants in squamous cell lung cancer. Genet Epidemiol 45, 99-114 (2021).
Sun, R. et al. Integration of multiomic annotation data to prioritize and characterize inflammation and immune-related risk variants in squamous cell lung cancer. Genet Epidemiol 45, 99-114 (2021).
Aguirre, M. et al. Polygenic risk modeling with latent trait-related genetic components. Eur J Hum Genet (2021). doi:10.1038/s41431-021-00813-0
Seplyarskiy, V. B. et al. Population sequencing data reveal a compendium of mutational processes in the human germ line. Science 373, 1030-1035 (2021).
de Goede, O. M. et al. Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease. Cell 184, 2633-2648.e19 (2021).
de Goede, O. M. et al. Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease. Cell 184, 2633-2648.e19 (2021).
Flynn, E. et al. Sex-specific genetic effects across biomarkers. Eur J Hum Genet 29, 154-163 (2021).
Tsetsos, F. et al. Synaptic processes and immune-related pathways implicated in Tourette syndrome. Transl Psychiatry 11, 56 (2021).
Tsetsos, F. et al. Synaptic processes and immune-related pathways implicated in Tourette syndrome. Transl Psychiatry 11, 56 (2021).
Tsetsos, F. et al. Synaptic processes and immune-related pathways implicated in Tourette syndrome. Transl Psychiatry 11, 56 (2021).

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