Publications

Heterogeneous effects of genetic variants and traits associated with fasting insulin on cardiometabolic outcomes.

Sevilla-Gonzalez M, Smith K, Wang N, et al. Heterogeneous effects of genetic variants and traits associated with fasting insulin on cardiometabolic outcomes. Nature communications. 2025;16(1):2569. doi:10.1038/s41467-025-57452-y

Rare missense variants of the leukocyte common antigen related receptor (LAR) display reduced activity in transcellular adhesion and synapse formation.

Kaas M, Chofflet N, Bicer D, et al. Rare missense variants of the leukocyte common antigen related receptor (LAR) display reduced activity in transcellular adhesion and synapse formation. bioRxiv : the preprint server for biology. 2025. doi:10.1101/2025.02.16.638491

Multi-omic analysis of the ciliogenic transcription factor reveals a role in promoting activity-dependent responses via enhancing CREB binding in human neurons.

Lai J, Demirbas D, Phillips K, et al. Multi-omic analysis of the ciliogenic transcription factor reveals a role in promoting activity-dependent responses via enhancing CREB binding in human neurons. bioRxiv : the preprint server for biology. 2025. doi:10.1101/2025.02.27.640588

Parts and ICRAFTs: Finding new immunotherapy targets.

Bi K, Yates KB. Parts and ICRAFTs: Finding new immunotherapy targets. Immunity. 2025;58(3):529-531. doi:10.1016/j.immuni.2025.02.016

High continuity of forager ancestry in the Neolithic period of the eastern Maghreb.

Lipson M, Ringbauer H, Lucarini G, et al. High continuity of forager ancestry in the Neolithic period of the eastern Maghreb. Nature. 2025. doi:10.1038/s41586-025-08699-4

TGFβ links EBV to multisystem inflammatory syndrome in children.

Goetzke CC, Massoud M, Frischbutter S, et al. TGFβ links EBV to multisystem inflammatory syndrome in children. Nature. 2025. doi:10.1038/s41586-025-08697-6

Collision tumor, a metastatic melanoma within a meningioma: a case report.

Yamazawa E, Cahill DP, Frosch MP, Brastianos PK, Sullivan RJ. Collision tumor, a metastatic melanoma within a meningioma: a case report. Acta neuropathologica communications. 2025;13(1):57. doi:10.1186/s40478-025-01975-4

Effects of Complex I Inhibition on the Architecture of Neural Rosettes Differentiated from Human-Induced Pluripotent Stem Cells.

Santarriaga S, Vater M, Dujmic P, Gerlovin K, Lee CW, Karmacharya R. Effects of Complex I Inhibition on the Architecture of Neural Rosettes Differentiated from Human-Induced Pluripotent Stem Cells. Stem cells and development. 2025. doi:10.1089/scd.2024.0169

Augmenting Primary Prevention of Sudden Cardiac Arrest in a Young Population.

Cho SMJ, Yoo TH. Augmenting Primary Prevention of Sudden Cardiac Arrest in a Young Population. Journal of the American Heart Association. 2025:e040881. doi:10.1161/JAHA.125.040881

Biallelic null variants in C19orf44 cause a unique late onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy.

Ehrenberg M, Avraham M, Asodu SS, et al. Biallelic null variants in C19orf44 cause a unique late onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy. Genetics in medicine : official journal of the American College of Medical Genetics. 2025:101401. doi:10.1016/j.gim.2025.101401