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Publications

Deleterious coding variation associated with autism is shared across ancestries.

Avila MN, Jung S, Satterstrom K, et al. Deleterious coding variation associated with autism is shared across ancestries. Nature medicine. 2026. doi:10.1038/s41591-026-04228-6

Genome-wide fine-mapping improves identification of causal variants.

Wu Y, Zheng Z, Thibaut L, et al. Genome-wide fine-mapping improves identification of causal variants. Nature genetics. 2026. doi:10.1038/s41588-026-02549-3

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Jackson A, Blakes AJM, Alhaddad B, et al. Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy. Nature genetics. 2026. doi:10.1038/s41588-026-02551-9

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Leitão E, Santini A, Cogne B, et al. Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies. Nature genetics. 2026. doi:10.1038/s41588-026-02547-5

Mesoscale molecular architecture of the human striatum across cell types and lifespan.

Kraft AW, Lee M, Rayan N, et al. Mesoscale molecular architecture of the human striatum across cell types and lifespan. bioRxiv : the preprint server for biology. 2026. doi:10.64898/2026.03.04.709715

PMCID

PMC12991174

Gene-by-Sleep Duration Interaction for Glycemic Traits in over 480,000 Individuals.

Wang H, Nagarajan P, Miller CL, et al. Gene-by-Sleep Duration Interaction for Glycemic Traits in over 480,000 Individuals. medRxiv : the preprint server for health sciences. 2026. doi:10.64898/2026.03.02.26346498

PMCID

PMC13001383

Disrupted O-GalNAc glycosylation as a mechanism and biomarker of -associated epilepsy.

Mealer RG, Anderson JJ, Smith SL, et al. Disrupted O-GalNAc glycosylation as a mechanism and biomarker of -associated epilepsy. bioRxiv : the preprint server for biology. 2026. doi:10.64898/2026.03.02.708854

PMCID

PMC13001337

Somatic mutation in human cerebellum illustrates neuron type-specific patterns of age-related mutation.

Essuman K, Yang Y, Goodman E, et al. Somatic mutation in human cerebellum illustrates neuron type-specific patterns of age-related mutation. bioRxiv : the preprint server for biology. 2026. doi:10.64898/2026.02.27.708647

PMCID

PMC13001421

Explainable Physicochemical Determinants of Protein-Ligand Binding via Non-Covalent Interactions.

Meng Z, Bai Z, Yuan K, et al. Explainable Physicochemical Determinants of Protein-Ligand Binding via Non-Covalent Interactions. bioRxiv : the preprint server for biology. 2026. doi:10.64898/2026.03.03.707476

PMCID

PMC13001423

Molecular Transducers of Physical Activity Consortium (MoTrPAC): Initial Insights into the Dynamic Human Responses to Exercise.

Brandt AR, Fleg J, Goodpaster BH, et al. Molecular Transducers of Physical Activity Consortium (MoTrPAC): Initial Insights into the Dynamic Human Responses to Exercise. bioRxiv : the preprint server for biology. 2026. doi:10.64898/2026.03.02.705347

PMCID

PMC13001330