Publications

Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes.

Schroeder P, Mandla R, Huerta-Chagoya A, et al. Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.09.28.23296244

Genome-wide CRISPR activation screen identifies JADE3 as an antiviral activator of NF-kB.

Munir M, Embry A, Doench JG, Heaton NS, Wilen CB, Orchard RC. Genome-wide CRISPR activation screen identifies JADE3 as an antiviral activator of NF-kB. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.09.29.560128

Multi-ancestry Polygenic Mechanisms of Type 2 Diabetes Elucidate Disease Processes and Clinical Heterogeneity.

Smith K, Deutsch AJ, McGrail C, et al. Multi-ancestry Polygenic Mechanisms of Type 2 Diabetes Elucidate Disease Processes and Clinical Heterogeneity. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.09.28.23296294

Heterozygous loss-of-function variants are associated with variable and incompletely penetrant growth and developmental features.

Ansari M, Faour KNW, Shimamura A, et al. Heterozygous loss-of-function variants are associated with variable and incompletely penetrant growth and developmental features. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.09.27.23294269

Hematologic setpoints are a stable and patient-specific deep phenotype.

Foy BH, Petherbridge R, Roth M, et al. Hematologic setpoints are a stable and patient-specific deep phenotype. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.09.26.23296146

Author Correction: Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.

Feofanova E V, Brown MR, Alkis T, et al. Author Correction: Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations. Nature communications. 2023;14(1):6611. doi:10.1038/s41467-023-42472-3

Author Correction: A biallelic multiple nucleotide length polymorphism explains functional causality at 5p15.33 prostate cancer risk locus.

Spisák S, Tisza V, Nuzzo PV, et al. Author Correction: A biallelic multiple nucleotide length polymorphism explains functional causality at 5p15.33 prostate cancer risk locus. Nature communications. 2023;14(1):6623. doi:10.1038/s41467-023-42515-9

Clinical utility of polygenic scores for cardiometabolic disease in Arabs.

Shim I, Kuwahara H, Chen N, et al. Clinical utility of polygenic scores for cardiometabolic disease in Arabs. Nature communications. 2023;14(1):6535. doi:10.1038/s41467-023-41985-1

Clinical trial links oncolytic immunoactivation to survival in glioblastoma.

Ling AL, Solomon IH, Landivar AM, et al. Clinical trial links oncolytic immunoactivation to survival in glioblastoma. Nature. 2023. doi:10.1038/s41586-023-06623-2

Author Correction: Efficient C•G-to-G•C base editors developed using CRISPRi screens, target-library analysis, and machine learning.

Koblan LW, Arbab M, Shen MW, et al. Author Correction: Efficient C•G-to-G•C base editors developed using CRISPRi screens, target-library analysis, and machine learning. Nature biotechnology. 2023. doi:10.1038/s41587-023-02028-8

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Publications

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