p-adic and combinatorial properties of modular form coefficients
Loh, Po-Ru, and Robert Rhoades. 2006. “P-Adic and Combinatorial Properties of Modular Form Coefficients”. International Journal of Number Theory 2 (02): 305–328.
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A genome-wide cross-trait analysis from UK Biobank highlights the shared genetic architecture of asthma and allergic diseases
Zhu, Zhaozhong, Phil Lee, Mark Chaffin, Wonil Chung, Po-Ru Loh, Quan Lu, David Christiani, and Liming Liang. 2018. “A Genome-Wide Cross-Trait Analysis from UK Biobank Highlights the Shared Genetic Architecture of Asthma and Allergic Diseases”. Nat Genet 50 (6): 857-64.
Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types
Finucane, Hilary, Yakir A Reshef, Verneri Anttila, Kamil Slowikowski, Alexander Gusev, Andrea Byrnes, Steven Gazal, et al. 2018. “Heritability Enrichment of Specifically Expressed Genes Identifies Disease-Relevant Tissues and Cell Types”. Nat Genet 50 (4): 621-29.
Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection
Gazal, Steven, Hilary Finucane, Nicholas Furlotte, Po-Ru Loh, Pier Francesco Palamara, Xuanyao Liu, Armin Schoech, et al. 2017. “Linkage Disequilibrium-Dependent Architecture of Human Complex Traits Shows Action of Negative Selection”. Nat Genet 49 (10): 1421-27.
Annotations capturing cell-type-specific TF binding explain a large fraction of disease heritability
Geijn, Bryce, Hilary Finucane, Steven Gazal, Farhad Hormozdiari, Tiffany Amariuta, Xuanyao Liu, Alexander Gusev, et al. 2019. “Annotations Capturing Cell-Type-Specific TF Binding Explain a Large Fraction of Disease Heritability”. Hum Mol Genet.
Large mosaic copy number variations confer autism risk
Sherman, Maxwell A, Rachel Rodin, Giulio Genovese, Caroline Dias, Alison Barton, Ronen Mukamel, Bonnie Berger, Peter Park, Christopher Walsh, and Po-Ru Loh. 2021. “Large Mosaic Copy Number Variations Confer Autism Risk”. Nat Neurosci 24 (2): 197-203.
Genetically predicted telomere length is associated with clonal somatic copy number alterations in peripheral leukocytes
Brown, Derek, Shu-Hong Lin, Po-Ru Loh, Stephen Chanock, Sharon Savage, and Mitchell Machiela. 2020. “Genetically Predicted Telomere Length Is Associated With Clonal Somatic Copy Number Alterations in Peripheral Leukocytes”. PLoS Genet 16 (10): e1009078.
Haplotype-aware analysis of somatic copy number variations from single-cell transcriptomes
Gao, Teng, Ruslan Soldatov, Hirak Sarkar, Adam Kurkiewicz, Evan Biederstedt, Po-Ru Loh, and Peter Kharchenko. 2022. “Haplotype-Aware Analysis of Somatic Copy Number Variations from Single-Cell Transcriptomes”. Nat Biotechnol.
A spectrum of recessiveness among Mendelian disease variants in UK Biobank
Barton, Alison R, Margaux Hujoel, Ronen Mukamel, Maxwell Sherman, and Po-Ru Loh. 2022. “A Spectrum of Recessiveness Among Mendelian Disease Variants in UK Biobank”. Am J Hum Genet 109 (7): 1298-1307.
A saturated map of common genetic variants associated with human height
Yengo, Loic, Sailaja Vedantam, Eirini Marouli, Julia Sidorenko, Eric Bartell, Saori Sakaue, Marielisa Graff, et al. 2022. “A Saturated Map of Common Genetic Variants Associated With Human Height”. Nature.