Publications

Export 132 results:
Author Title [ Year(Asc)]
2020
Steinsaltz, D., Dahl, A. & Wachter, K. W. On Negative Heritability and Negative Estimates of Heritability. Genetics 215, 343-357 (2020).
Stefani, S. et al. Neurophysiological and Genetic Findings in Patients With Juvenile Myoclonic Epilepsy. Front Integr Neurosci 14, 45 (2020).
McCaw, Z. R., Lane, J. M., Saxena, R., Redline, S. & Lin, X. Operating characteristics of the rank-based inverse normal transformation for quantitative trait analysis in genome-wide association studies. Biometrics 76, 1262-1272 (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).
Tang, Z. - Z. et al. PSCAN: Spatial scan tests guided by protein structures improve complex disease gene discovery and signal variant detection. Genome Biol 21, 217 (2020).
Patel, A. P., Paranjpe, M. D., Kathiresan, N. P., Rivas, M. A. & Khera, A. V. Race, socioeconomic deprivation, and hospitalization for COVID-19 in English participants of a national biobank. Int J Equity Health 19, 114 (2020).
Tanigawa, Y. et al. Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma. PLoS Genet 16, e1008682 (2020).
Dahl, A. et al. A Robust Method Uncovers Significant Context-Specific Heritability in Diverse Complex Traits. Am J Hum Genet 106, 71-91 (2020).
Liu, D. et al. A Transcriptome-Wide Association Study Identifies Candidate Susceptibility Genes for Pancreatic Cancer Risk. Cancer Res 80, 4346-4354 (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
Zhou, D. et al. A unified framework for joint-tissue transcriptome-wide association and Mendelian randomization analysis. Nat Genet 52, 1239-1246 (2020).
Minardi, R. et al. Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late. Clin Genet 98, 477-485 (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).
2019
Liu, Y. et al. ACAT: A Fast and Powerful p Value Combination Method for Rare-Variant Analysis in Sequencing Studies. Am J Hum Genet 104, 410-421 (2019).
Dahl, A., Guillemot, V., Mefford, J., Aschard, H. & Zaitlen, N. Adjusting for Principal Components of Molecular Phenotypes Induces Replicating False Positives. Genetics 211, 1179-1189 (2019).
Weghorn, D. et al. Applicability of the Mutation-Selection Balance Model to Population Genetics of Heterozygous Protein-Truncating Variants in Humans. Mol Biol Evol 36, 1701-1710 (2019).
Wang, Q. et al. A Bayesian framework that integrates multi-omics data and gene networks predicts risk genes from schizophrenia GWAS data. Nat Neurosci 22, 691-699 (2019).
Chen, S. & Onnela, J. - P. A Bootstrap Method for Goodness of Fit and Model Selection with a Single Observed Network. Sci Rep 9, 16674 (2019).
Tanigawa, Y. et al. Components of genetic associations across 2,138 phenotypes in the UK Biobank highlight adipocyte biology. Nat Commun 10, 4064 (2019).
Yang, H. et al. De novo pattern discovery enables robust assessment of functional consequences of non-coding variants. Bioinformatics 35, 1453-1460 (2019).
Dennis, J. et al. Diagnostic Algorithms to Study Post-Concussion Syndrome Using Electronic Health Records: Validating a Method to Capture an Important Patient Population. J Neurotrauma 36, 2167-2177 (2019).
Saito, Y. et al. Differential NOVA2-Mediated Splicing in Excitatory and Inhibitory Neurons Regulates Cortical Development and Cerebellar Function. Neuron 101, 707-720.e5 (2019).
Martin, S. et al. Drug-Resistant Juvenile Myoclonic Epilepsy: Misdiagnosis of Progressive Myoclonus Epilepsy. Front Neurol 10, 946 (2019).
Chen, H. et al. Efficient Variant Set Mixed Model Association Tests for Continuous and Binary Traits in Large-Scale Whole-Genome Sequencing Studies. Am J Hum Genet 104, 260-274 (2019).
Seplyarskiy, V. B. et al. Error-prone bypass of DNA lesions during lagging-strand replication is a common source of germline and cancer mutations. Nat Genet 51, 36-41 (2019).
Uricchio, L. H., Kitano, H. C., Gusev, A. & Zaitlen, N. A. An evolutionary compass for detecting signals of polygenic selection and mutational bias. Evol Lett 3, 69-79 (2019).
Abul-Husn, N. S. et al. Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank. Genome Med 12, 2 (2019).
O'Connor, L. J. et al. Extreme Polygenicity of Complex Traits Is Explained by Negative Selection. Am J Hum Genet 105, 456-476 (2019).
Xu, M. et al. Genome sequencing analysis identifies Epstein-Barr virus subtypes associated with high risk of nasopharyngeal carcinoma. Nat Genet 51, 1131-1136 (2019).
McInnes, G. et al. Global Biobank Engine: enabling genotype-phenotype browsing for biobank summary statistics. Bioinformatics 35, 2495-2497 (2019).
Unlu, G. et al. GRIK5 Genetically Regulated Expression Associated with Eye and Vascular Phenomes: Discovery through Iteration among Biobanks, Electronic Health Records, and Zebrafish. Am J Hum Genet 104, 503-519 (2019).
Frésard, L. et al. Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts. Nat Med 25, 911-919 (2019).
J Weissenkampen, D. et al. Methods for the Analysis and Interpretation for Rare Variants Associated with Complex Traits. Curr Protoc Hum Genet 101, e83 (2019).
Luo, R., Sedlazeck, F. J., Lam, T. - W. & Schatz, M. C. A multi-task convolutional deep neural network for variant calling in single molecule sequencing. Nat Commun 10, 998 (2019).
Wainberg, M. et al. Opportunities and challenges for transcriptome-wide association studies. Nat Genet 51, 592-599 (2019).
Abul-Husn, N. S. & Kenny, E. E. Personalized Medicine and the Power of Electronic Health Records. Cell 177, 58-69 (2019).
Aguirre, M., Rivas, M. A. & Priest, J. Phenome-wide Burden of Copy-Number Variation in the UK Biobank. Am J Hum Genet 105, 373-383 (2019).
Sohail, M. et al. Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies. Elife 8, (2019).
Schoech, A. P. et al. Quantification of frequency-dependent genetic architectures in 25 UK Biobank traits reveals action of negative selection. Nat Commun 10, 790 (2019).
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals. Am J Hum Genet 105, 267-282 (2019).
2018
Park, D. S. et al. An ancestry-based approach for detecting interactions. Genet Epidemiol 42, 49-63 (2018).
Hu, Y. et al. A common loss-of-function variant is associated with lower vitamin B concentration in African Americans. Blood 131, 2859-2863 (2018).
Verbanck, M., Chen, C. - Y., Neale, B. & Do, R. Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseases. Nat Genet 50, 693-698 (2018).
Westra, H. - J. et al. Fine-mapping and functional studies highlight potential causal variants for rheumatoid arthritis and type 1 diabetes. Nat Genet 50, 1366-1374 (2018).
Gazal, S. et al. Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations. Nat Genet 50, 1600-1607 (2018).
Regier, A. A. et al. Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects. Nat Commun 9, 4038 (2018).

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