Publications

Integrating Long-Read Structural Variant Analysis with single-nucleus RNA-seq to Elucidate Gene Expression Effects in Disease.

Kim K, Lin Z, Simmons SK, et al. Integrating Long-Read Structural Variant Analysis with single-nucleus RNA-seq to Elucidate Gene Expression Effects in Disease. bioRxiv : the preprint server for biology. 2026. doi:10.64898/2026.03.20.713192

PMCID

PMC13041997

Putting polygenic scores in context: How intersectional factors affect relative and absolute genetic risk.

Cudic M, Tubbs JD, Ge T, Smoller JW. Putting polygenic scores in context: How intersectional factors affect relative and absolute genetic risk. American journal of human genetics. 2026. doi:10.1016/j.ajhg.2026.03.013

Plasma phosphorylated tau 217 and longitudinal trajectories of Aβ, tau, and cognition in cognitively unimpaired older adults.

Yang HS, Anzai JAU, Yau WYW, et al. Plasma phosphorylated tau 217 and longitudinal trajectories of Aβ, tau, and cognition in cognitively unimpaired older adults. Nature communications. 2026;17(1). doi:10.1038/s41467-026-71269-3

Lipid membrane remodeling by myristic acid treatment reverses Parkinson's disease α-synuclein phenotypes in patient neurons.

Pacheco JA, Sauli G, Fonseca-Ornelas L, et al. Lipid membrane remodeling by myristic acid treatment reverses Parkinson’s disease α-synuclein phenotypes in patient neurons. npj metabolic health and disease. 2026;4(1). doi:10.1038/s44324-026-00110-8

Antisense oligonucleotide-mediated knockdown therapy in two infants with severe KCNT1 epileptic encephalopathy.

Nakayama T, Achkar CME, Burbano LE, et al. Antisense oligonucleotide-mediated knockdown therapy in two infants with severe KCNT1 epileptic encephalopathy. Nature medicine. 2026. doi:10.1038/s41591-026-04314-9

Phenotypic prediction of missense variants via deep contrastive learning.

Wen J, Zeng S, Bonzel CL, et al. Phenotypic prediction of missense variants via deep contrastive learning. Nature biomedical engineering. 2026. doi:10.1038/s41551-026-01636-4

In vivo base editing rescues liver pathophysiology and peroxisome dysfunction in a mouse model of Zellweger spectrum disorder.

Gao XD, Presa M, Duby JE, et al. In vivo base editing rescues liver pathophysiology and peroxisome dysfunction in a mouse model of Zellweger spectrum disorder. Nature biomedical engineering. 2026. doi:10.1038/s41551-026-01651-5

Polyclonal selection of immune checkpoint mutations in thyroid autoimmunity.

Nicola PA, Lawson ARJ, Tidd A, et al. Polyclonal selection of immune checkpoint mutations in thyroid autoimmunity. Nature. 2026. doi:10.1038/s41586-026-10493-9

Blood biomarkers and breed genetics of aging in pet dogs.

Sohrab V, White ME, Harrison BR, et al. Blood biomarkers and breed genetics of aging in pet dogs. bioRxiv : the preprint server for biology. 2026. doi:10.64898/2026.03.07.710297

PMCID

PMC13042038

Subsistence transition preceded population turnover in the eastern Colombian Andes.

Sirak K, Delgado M, Triana A, et al. Subsistence transition preceded population turnover in the eastern Colombian Andes. bioRxiv : the preprint server for biology. 2026. doi:10.64898/2026.03.23.713713

PMCID

PMC13042078

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Publications

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