Marybeth Baumgartner

A Human Accelerated Region Drives Opposing Heterochronic Changes in Craniofacial and Limb Development

This study shows that the human-specific HAR HACNS1 drives opposing heterochronic changes in craniofacial and limb development through altered gene regulatory networks.

Cell type-specific dysregulation of gene expression due to Chd8 haploinsufficiency during mouse cortical development

This study identifies cell type-specific gene expression changes in Chd8 haploinsufficient mouse cortex during development, highlighting dysregulation in progenitors and neurons.

Resolving the three-dimensional interactome of Human Accelerated Regions during human and chimpanzee neurodevelopment

The paper maps chromatin interactions of Human Accelerated Regions (HARs) in human and chimpanzee neural stem cells to identify gene targets and their role in neurodevelopment.

Human Accelerated Regions regulate gene networks implicated in apical-to-basal neural progenitor fate transitions

The paper identifies human accelerated regions (HARs) that regulate gene networks involved in neural progenitor fate transitions, specifically affecting apical-to-basal polarity and cortical development.

CpG island turnover events predict evolutionary changes in enhancer activity

The paper shows that turnover of CpG islands in enhancers is linked to changes in enhancer activity across mammals, including humans, and contributes to gene regulatory innovation.

Evolutionary innovation in conserved regulatory elements across the mammalian tree of life

The paper identifies accelerated evolution in conserved enhancer elements across mammals and links it to regulatory function turnover and developmental gene modifications.

Trp53 ablation fails to prevent microcephaly in mouse pallium with impaired minor intron splicing

This study shows that Trp53 ablation does not prevent microcephaly in Rnu11 cKO mice, but dKO mice show transcriptomic shifts and more severe cell cycle defects.

Minor spliceosome inactivation in the developing mouse cortex causes self-amplifying radial glial cell death and microcephaly.

The paper investigates the role of the minor spliceosome in cortical development by ablating Rnu11 in mice, revealing microcephaly due to radial glial cell death.