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Publications

Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation.

McGivern B, Holling T, Sacoto MJG, et al. Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation. HGG advances. 2025:100438. doi:10.1016/j.xhgg.2025.100438

Genetic risk for open angle glaucoma subtypes is associated with specific visual field defect classes.

Sekimitsu S, Selvan K, Zhao Y, et al. Genetic risk for open angle glaucoma subtypes is associated with specific visual field defect classes. Ophthalmology. 2025. doi:10.1016/j.ophtha.2025.04.008

Associations of a multidimensional polygenic sleep health score and a sleep lifestyle index with disease outcomes and their interaction in a clinical biobank.

Paz V, Wilcox H, Goodman M, et al. Associations of a multidimensional polygenic sleep health score and a sleep lifestyle index with disease outcomes and their interaction in a clinical biobank. Sleep health. 2025. doi:10.1016/j.sleh.2025.02.009

Structural insights into RNA-guided RNA editing by the Cas13b-ADAR2 complex.

Ishikawa J, Kato K, Kannan S, et al. Structural insights into RNA-guided RNA editing by the Cas13b-ADAR2 complex. Nature structural & molecular biology. 2025. doi:10.1038/s41594-025-01529-1

A single-cell atlas of Schwannoma across genetic backgrounds and anatomic locations.

Castro NG, Gavish A, Bussema L, et al. A single-cell atlas of Schwannoma across genetic backgrounds and anatomic locations. Genome medicine. 2025;17(1):37. doi:10.1186/s13073-025-01462-4

On the analysis of metabolite quantitative trait loci: Impact of different data transformations and study designs.

Lee S, Kelly RS, Mendez KM, et al. On the analysis of metabolite quantitative trait loci: Impact of different data transformations and study designs. Science advances. 2025;11(15):eadp4532. doi:10.1126/sciadv.adp4532

Complete sequencing of ape genomes.

Yoo D, Rhie A, Hebbar P, et al. Complete sequencing of ape genomes. Nature. 2025. doi:10.1038/s41586-025-08816-3

Timing and trajectory of BCR::ABL1-driven chronic myeloid leukaemia.

Kamizela AE, Leongamornlert D, Williams N, et al. Timing and trajectory of BCR::ABL1-driven chronic myeloid leukaemia. Nature. 2025. doi:10.1038/s41586-025-08817-2

Mobile genetic elements: the hidden puppet masters underlying infant gut microbiome assembly?

Kreuze K, Friman VP, Vatanen T. Mobile genetic elements: the hidden puppet masters underlying infant gut microbiome assembly?. Microbiome research reports. 2025;4(1):7. doi:10.20517/mrr.2024.51

Advancing precision care in pregnancy through a treatable fetal findings list.

Cohen JL, Duyzend M, Adelson SM, et al. Advancing precision care in pregnancy through a treatable fetal findings list. American journal of human genetics. 2025. doi:10.1016/j.ajhg.2025.03.011