Author

Gregory M. Cooper

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Open access Sep 2026

Single-cell multiomics across nine mammals reveals cell-type-specific regulatory conservation in the brain.

Understanding gene regulation in the brain is essential for defining the genetic basis of neurologic disease. Cis-regulatory elements (CREs) regulate gene expression, but their function and evolution depend on sequence and cis- and trans-regulatory context. We generated single-nucleus RNA- and ATAC-seq data from cortex...

Ashlyn G. Anderson, B. Rogers, Erin A. Barinaga et al. · Cell Genomics · 0 citations

Sep 2026

Monoallelic variants in BRSK1 are associated with a neurodevelopmental disorder with or without epilepsy.

The data support a model that heterozygous loss of BRSK1 leads to a neurodevelopmental syndrome with variable phenotypes and indicates that the three individual-derived alleles provide only a partial rescue and fail to normalize NMJ morphology and Futsch levels, suggesting that they are partial loss-of-function alleles...

Ming-Xi Deng, Meng-Qi Ma, Vanessa A. Gomez et al. · American Journal of Human Ge... · 0 citations

Open access Sep 2026

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features

Clinical cohort findings that rare monoallelic LoF variants in ZNF536 underlie a genetic neurodevelopmental disorder characterized by developmental delay, autism, and behavioral dysregulation support a role for ZNF536 as a dosage-sensitive regulator of cortical development.

S. Hiatt, Wen-Jing Zhao, Zhong-Qing Wang et al. · American Journal of Human Ge... · 0 citations