Publications

Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans.

Bonardi CM, Møller RS, Ruiz-Reig N, et al. Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans. Nature communications. 2026. doi:10.1038/s41467-025-67576-wPubMed DOI Google Scholar

Inhibition of mTOR Enhances the Efficacy of Proteasome-Dependent Targeted Protein Degradation Approaches.

Liu Y, Sun Y, Song TY, et al. Inhibition of mTOR Enhances the Efficacy of Proteasome-Dependent Targeted Protein Degradation Approaches. Cancer research. 2026. doi:10.1158/0008-5472.CAN-25-3941PubMed DOI Google Scholar

Loss of Mtarc1 Protects Against Steatotic Liver Disease in Mice.

Yin X, Bickerton C, MacDonald B, et al. Loss of Mtarc1 Protects Against Steatotic Liver Disease in Mice. Liver international : official journal of the International Association for the Study of the Liver. 2026;46(2):e70507. doi:10.1111/liv.70507PubMed DOI Google Scholar

Fine-mapping a genome-wide meta-analysis of 98,374 migraine cases identifies 181 sets of candidate causal variants.

Hautakangas H, Kartau J, Palotie A, Pirinen M, , . Fine-mapping a genome-wide meta-analysis of 98,374 migraine cases identifies 181 sets of candidate causal variants. Nature communications. 2026;17(1):355. doi:10.1038/s41467-025-64880-3PubMed DOI Google Scholar

Small molecule splicing modulators that disrupt O-GlcNAc homeostasis.

Cheng SS, Mody AC, Vetere A, et al. Small molecule splicing modulators that disrupt O-GlcNAc homeostasis. Nature communications. 2026. doi:10.1038/s41467-025-68271-6PubMed DOI Google Scholar

Single-cell-resolved transcriptional dynamics of human subcutaneous adipose tissue during lifestyle- and bariatric surgery-induced weight loss.

Loft A, Rydbirk R, Klinggaard EG, et al. Single-cell-resolved transcriptional dynamics of human subcutaneous adipose tissue during lifestyle- and bariatric surgery-induced weight loss. Nature metabolism. 2026. doi:10.1038/s42255-025-01433-4PubMed DOI Google Scholar

Long-term seizure reduction with vagus nerve stimulation in Dravet syndrome.

Bajaj S, Ivaniuk A, Bruenger T, et al. Long-term seizure reduction with vagus nerve stimulation in Dravet syndrome. Developmental medicine and child neurology. 2026. doi:10.1111/dmcn.70127PubMed DOI Google Scholar

Cell Culture Substrate Variation Alters Extracellular Vesicle Biogenesis Without Affecting Non-Coding Repeat RNA Profile.

Veiga SI, Porter RL, Aldikacti B, et al. Cell Culture Substrate Variation Alters Extracellular Vesicle Biogenesis Without Affecting Non-Coding Repeat RNA Profile. Small (Weinheim an der Bergstrasse, Germany). 2026:e10233. doi:10.1002/smll.202510233PubMed DOI Google Scholar

Leveraging single cell multiomic analyses to identify gene regulatory networks that drive human articular cartilage cell fate.

Jachim SK, Venkatasubramanian D, Senevirathne G, et al. Leveraging single cell multiomic analyses to identify gene regulatory networks that drive human articular cartilage cell fate. Osteoarthritis and cartilage. 2026. doi:10.1016/j.joca.2025.12.025PubMed DOI Google Scholar

A Large-Scale Genome-wide Association Study of Blood Pressure Accounting for Gene-Depressive Symptomatology Interactions in 564,680 Individuals from Diverse Populations.

Lee S, Miller CL, Bentley AR, et al. A Large-Scale Genome-wide Association Study of Blood Pressure Accounting for Gene-Depressive Symptomatology Interactions in 564,680 Individuals from Diverse Populations. HGG advances. 2026:100566. doi:10.1016/j.xhgg.2026.100566PubMed DOI Google Scholar