Craig B. Lowe

The paper identifies 1,596 Consensus HAQERs by aligning T2T assemblies, showing they are rapidly evolved regions with mutation signatures, regulatory functions, and disease associations.

The paper identifies segmental duplications as a major mechanism for forming regulatory element families in human embryonic stem cells and finds that these duplications often lead to human-specific rewiring of regulatory connections.

The paper shows that freshwater threespine stickleback fish have evolved expanded copies of the MYH3C gene family, which is linked to muscle development and adaptive divergence from marine populations.

The paper identifies HAQERs in human cortical development, showing their role in gene regulation through CpG gains and links them to neurological disorders.

The paper presents a high-quality marine Threespine Stickleback genome assembly from Rabbit Slough, which includes regions deleted in freshwater populations and provides a better reference for evolutionary studies.

The paper uses snRNA-seq to study Purkinje cells in SCA7 mice, revealing zebrin-II subtype loss as a key feature of polyglutamine ataxias.

The paper uses chimpanzee cerebral organoids to identify human-specific genes in cortical development and finds increased PI3K/AKT/mTOR activation in human outer radial glia.

The paper identifies a human-specific tandem repeat in the CACNA1C gene associated with bipolar disorder and schizophrenia risk, showing it functions as an enhancer with variable activity linked to disease.