ӳ��ý

Publications

Genomic Profiling of Smoldering Multiple Myeloma Identifies Patients at a High Risk of Disease Progression.

Bustoros M, Sklavenitis-Pistofidis R, Park J, et al. Genomic Profiling of Smoldering Multiple Myeloma Identifies Patients at a High Risk of Disease Progression. J Clin Oncol. 2020:JCO2000437. doi:10.1200/JCO.20.00437

Narcolepsy Type 1: What have we learned from genetics?

Ollila HM. Narcolepsy Type 1: What have we learned from genetics? Sleep. 2020. doi:10.1093/sleep/zsaa099

AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants.

Xiang J, Peng J, Baxter S, Peng Z. AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants. Hum Mutat. 2020. doi:10.1002/humu.24051

Mouse Model Systems of Autism Spectrum Disorder: Replicability and Informatics Signature.

Kabitzke P, Morales D, He D, et al. Mouse Model Systems of Autism Spectrum Disorder: Replicability and Informatics Signature. Genes Brain Behav. 2020:e12676. doi:10.1111/gbb.12676

Clinical and Genetic Spectra of Autosomal Dominant Tubulointerstitial Kidney Disease due to Mutations in UMOD and MUC1.

Olinger E, Hofmann P, Kidd K, et al. Clinical and Genetic Spectra of Autosomal Dominant Tubulointerstitial Kidney Disease due to Mutations in UMOD and MUC1. Kidney Int. 2020. doi:10.1016/j.kint.2020.04.038

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