Max L. Dougherty

The genetic, clinical and immune landscape of clonal hematopoiesis across adulthood in the multi-ancestry Mount Sinai Million cohort

This study characterizes clonal hematopoiesis across adulthood and genetic ancestry in a large cohort, finding age-related increases in prevalence, ancestry-specific differences, and associations with immune markers and disease outcomes.

Structural variation, selection, and diversification of the NPIP gene family from the human pangenome

The paper characterizes the structural variation and diversification of the NPIP gene family in humans using long-read sequencing and identifies evidence of positive selection and novel gene models.

Independent expansion, selection and hypervariability of the TBC1D3 gene family in humans

The paper investigates the expansion, selection, and hypervariability of the TBC1D3 gene family in humans using long-read sequencing data, revealing multiple duplications, copy number variation, and expression patterns.

Establishing Cerebral Organoids as Models of Human-Specific Brain Evolution

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.

Human-specific NOTCH-like genes in a region linked to neurodevelopmental disorders affect cortical neurogenesis

The paper identifies human-specific NOTCH2NL genes linked to neurodevelopmental disorders and shows they affect cortical neurogenesis through Notch signaling.