Publications

Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism.

Hengel H, Hannan SB, Reich S, et al. Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism. Brain : a journal of neurology. 2025. doi:10.1093/brain/awaf111

A mechanically resilient soft hydrogel improves drug delivery for treating post-traumatic osteoarthritis in physically active joints.

Joshi N, Yan J, Dang M, et al. A mechanically resilient soft hydrogel improves drug delivery for treating post-traumatic osteoarthritis in physically active joints. Proceedings of the National Academy of Sciences of the United States of America. 2025;122(14):e2409729122. doi:10.1073/pnas.2409729122

Temporal patterns of haplotypic and allelic diversity reflect the changing selection landscape of the malaria parasite Plasmodium falciparum.

Early AM, Pelleau S, Musset L, Neafsey DE. Temporal patterns of haplotypic and allelic diversity reflect the changing selection landscape of the malaria parasite Plasmodium falciparum. Molecular biology and evolution. 2025. doi:10.1093/molbev/msaf075

Human genetic evidence enriched for side effects of approved drugs.

Minikel EV, Nelson MR. Human genetic evidence enriched for side effects of approved drugs. PLoS genetics. 2025;21(3):e1011638. doi:10.1371/journal.pgen.1011638

A cerebrospinal fluid synaptic protein biomarker for prediction of cognitive resilience versus decline in Alzheimer's disease.

Oh HSH, Urey DY, Karlsson L, et al. A cerebrospinal fluid synaptic protein biomarker for prediction of cognitive resilience versus decline in Alzheimer’s disease. Nature medicine. 2025. doi:10.1038/s41591-025-03565-2

Targeted degradation of CDK9 potently disrupts the MYC-regulated network.

Toure MA, Motoyama K, Xiang Y, et al. Targeted degradation of CDK9 potently disrupts the MYC-regulated network. Cell chemical biology. 2025. doi:10.1016/j.chembiol.2025.03.001

Response Quantitative Trait Loci Unveiling Gene-Environment Interactions in Diseases.

Chen Y, Wang X, Chen C. Response Quantitative Trait Loci Unveiling Gene-Environment Interactions in Diseases. Biological psychiatry. 2025;97(8):756-757. doi:10.1016/j.biopsych.2025.02.003

Assessing the potential causal effects of 1099 plasma metabolites on 2099 binary disease endpoints.

Yin X, Li J, Bose D, et al. Assessing the potential causal effects of 1099 plasma metabolites on 2099 binary disease endpoints. Nature communications. 2025;16(1):3039. doi:10.1038/s41467-025-58129-2

Author Correction: A multi-modal single-cell and spatial expression map of metastatic breast cancer biopsies across clinicopathological features.

Klughammer J, Abravanel DL, Segerstolpe Åsa, et al. Author Correction: A multi-modal single-cell and spatial expression map of metastatic breast cancer biopsies across clinicopathological features. Nature medicine. 2025. doi:10.1038/s41591-025-03665-z

Tutorial: guidelines for quality filtering of whole-exome and whole-genome sequencing data for population-scale association analyses.

Sealock JM, Ivankovic F, Liao C, et al. Tutorial: guidelines for quality filtering of whole-exome and whole-genome sequencing data for population-scale association analyses. Nature protocols. 2025. doi:10.1038/s41596-025-01169-1

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Publications

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