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Publications

The ENCODE mouse postnatal developmental time course identifies regulatory programs of cell types and cell states.

Rebboah E, Rezaie N, Williams BA, et al. The ENCODE mouse postnatal developmental time course identifies regulatory programs of cell types and cell states. bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.06.12.598567

Frameshift variants in C10orf71 cause dilated cardiomyopathy in human, mouse, and organoid models.

Li Y, Ma K, Dong Z, et al. Frameshift variants in C10orf71 cause dilated cardiomyopathy in human, mouse, and organoid models. The Journal of clinical investigation. 2024;134(12). doi:10.1172/JCI177172

Cellpose as a reliable method for single-cell segmentation of autofluorescence microscopy images.

Riendeau JM, Gillette AA, Guzman EC, et al. Cellpose as a reliable method for single-cell segmentation of autofluorescence microscopy images. bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.06.07.597994

Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database.

Gudmundsson S, Singer-Berk M, Stenton SL, et al. Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database. bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.06.12.593113

Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database.

Gudmundsson S, Singer-Berk M, Stenton SL, et al. Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database. bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.06.12.593113

Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database.

Gudmundsson S, Singer-Berk M, Stenton SL, et al. Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database. bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.06.12.593113

Notch induces transcription by stimulating release of paused RNA Pol II without increasing chromatin accessibility.

Rogers JM, Mimoso CA, Martin BJ, et al. Notch induces transcription by stimulating release of paused RNA Pol II without increasing chromatin accessibility. bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.06.13.598853

CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes.

Maio N, Orbach R, Zaharieva IT, et al. CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes. The Journal of clinical investigation. 2024;134(12). doi:10.1172/JCI179559

Notch induces transcription by stimulating release of paused RNA Pol II without increasing chromatin accessibility.

Rogers JM, Mimoso CA, Martin BJ, et al. Notch induces transcription by stimulating release of paused RNA Pol II without increasing chromatin accessibility. bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.06.13.598853

Notch induces transcription by stimulating release of paused RNA Pol II without increasing chromatin accessibility.

Rogers JM, Mimoso CA, Martin BJ, et al. Notch induces transcription by stimulating release of paused RNA Pol II without increasing chromatin accessibility. bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.06.13.598853