ӳ��ý

Publications

A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorder.

Jones LK, Lam R, McKee KK, et al. A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorder. Development. 2020. doi:10.1242/dev.189183

Genetic overlap and causal inferences between kidney function and cerebrovascular disease.

Marini S, Georgakis MK, Chung J, et al. Genetic overlap and causal inferences between kidney function and cerebrovascular disease. Neurology. 2020. doi:10.1212/WNL.0000000000009642

Inferring multimodal latent topics from electronic health records.

Li Y, Nair P, Lu XH, et al. Inferring multimodal latent topics from electronic health records. Nat Commun. 2020;11(1):2536. doi:10.1038/s41467-020-16378-3

Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction.

Ntalla I, Weng LC, Cartwright JH, et al. Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction. Nat Commun. 2020;11(1):2542. doi:10.1038/s41467-020-15706-x

Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome.

Lahrouchi N, Tadros R, Crotti L, et al. Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome. Circulation. 2020. doi:10.1161/CIRCULATIONAHA.120.045956

Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.

Nichols CA, Gibson WJ, Brown MS, et al. Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities. Nat Commun. 2020;11(1):2517. doi:10.1038/s41467-020-16399-y

Author Correction: Phage-assisted evolution of an adenine base editor with improved Cas domain compatibility and activity.

Richter MF, Zhao KT, Eton E, et al. Author Correction: Phage-assisted evolution of an adenine base editor with improved Cas domain compatibility and activity. Nat Biotechnol. 2020. doi:10.1038/s41587-020-0562-8

Selective inhibition of glycogen synthase kinase 3α corrects pathophysiology in a mouse model of fragile X syndrome.

McCamphill PK, Stoppel LJ, Senter RK, et al. Selective inhibition of glycogen synthase kinase 3α corrects pathophysiology in a mouse model of fragile X syndrome. Sci Transl Med. 2020;12(544). doi:10.1126/scitranslmed.aam8572

Precise phylogenetic analysis of microbial isolates and genomes from metagenomes using PhyloPhlAn 3.0.

Asnicar F, Thomas AM, Beghini F, et al. Precise phylogenetic analysis of microbial isolates and genomes from metagenomes using PhyloPhlAn 3.0. Nat Commun. 2020;11(1):2500. doi:10.1038/s41467-020-16366-7

Single-cell RNA sequencing at isoform resolution.

Macosko EZ. Single-cell RNA sequencing at isoform resolution. Nat Biotechnol. 2020. doi:10.1038/s41587-020-0553-9