Publications

Mono- and biallelic variant effects on disease at biobank scale

Mono- and biallelic variant effects on disease at biobank scale. Nature. 2023. doi:10.1038/s41586-022-05420-7.DOI Google Scholar PubMed

FinnGen provides genetic insights from a well-phenotyped isolated population

FinnGen provides genetic insights from a well-phenotyped isolated population. Nature. 2023. doi:10.1038/s41586-022-05473-8.DOI Google Scholar PubMed

A ubiquitination cascade regulating the integrated stress response and survival in carcinomas.

Cervia LD, Shibue T, Borah AA, et al. A ubiquitination cascade regulating the integrated stress response and survival in carcinomas. Cancer Discov. 2022. doi:10.1158/2159-8290.CD-22-1230.DOI Google Scholar PubMed

HLA-I immunopeptidome profiling of human cells infected with high-containment enveloped viruses.

Weingarten-Gabbay S, Pearlman LR, Chen D-Y, et al. HLA-I immunopeptidome profiling of human cells infected with high-containment enveloped viruses. STAR Protoc. 2022;3(4):101910. doi:10.1016/j.xpro.2022.101910.DOI Google Scholar PubMed

In situ cell-type-specific cell-surface proteomic profiling in mice.

Shuster A, Li J, Chon UR, et al. In situ cell-type-specific cell-surface proteomic profiling in mice. Neuron. 2022;110(23):3882-3896.e9. doi:10.1016/j.neuron.2022.09.025.DOI Google Scholar PubMed

CALR-mutated cells are vulnerable to combined inhibition of the proteasome and the endoplasmic reticulum stress response.

Jutzi JS, Marneth AE, Jiménez-Santos MJ, et al. CALR-mutated cells are vulnerable to combined inhibition of the proteasome and the endoplasmic reticulum stress response. Leukemia. 2022. doi:10.1038/s41375-022-01781-0.DOI Google Scholar PubMed

Greater genetic diversity is needed in human pluripotent stem cell models.

Ghosh S, Nehme R, Barrett LE. Greater genetic diversity is needed in human pluripotent stem cell models. Nat Commun. 2022;13(1):7301. doi:10.1038/s41467-022-34940-z.DOI Google Scholar PubMed

Single cell characterization of myeloma and its precursor conditions reveals transcriptional signatures of early tumorigenesis.

Boiarsky R, Haradhvala NJ, Alberge J-B, et al. Single cell characterization of myeloma and its precursor conditions reveals transcriptional signatures of early tumorigenesis. Nat Commun. 2022;13(1):7040. doi:10.1038/s41467-022-33944-z.DOI Google Scholar PubMed

A general approach to identify cell-permeable and synthetic anti-CRISPR small molecules.

Lim D, Zhou Q, Cox KJ, et al. A general approach to identify cell-permeable and synthetic anti-CRISPR small molecules. Nat Cell Biol. 2022. doi:10.1038/s41556-022-01005-8.DOI Google Scholar PubMed

Systemic administration of novel engineered AAV capsids facilitates enhanced transgene expression in the macaque CNS.

Stanton AC, Lagerborg KA, Tellez L, et al. Systemic administration of novel engineered AAV capsids facilitates enhanced transgene expression in the macaque CNS. Med (N Y). 2022. doi:10.1016/j.medj.2022.11.002.DOI Google Scholar PubMed