Dan Doherty

Ontogeny Dictates Oncogenic Potential, Lineage Hierarchy, and Therapy Response in Pediatric Leukemia

This study shows that the developmental stage of hematopoietic stem cells influences leukemic transformation, lineage hierarchy, and therapy response in pediatric leukemia.

Multimodal analyses reveal genes driving electrophysiological maturation of neurons in the primate prefrontal cortex

The paper identifies genes and regulatory networks driving electrophysiological maturation of neurons in primate prefrontal cortex, with implications for autism.

SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns

SeqFirst-neo uses a genotype-driven workflow with broad exclusion criteria to increase access to rapid whole genome sequencing in critically ill newborns, significantly improving the rate and equity of precise genetic diagnoses.

Systematic analysis of cilia characteristics and Hedgehog signaling in five immortal cell lines

The paper evaluates Hedgehog signaling in five cell lines, finding that hTERT RPE-1 and NIH/3T3 cells respond appropriately, while ARPE-19 and HEK293T do not.

Human iPSC Derived Enamel Organoid Guided by Single-Cell Atlas of Human Tooth Development

The paper establishes a single-cell atlas of human tooth development and uses it to guide the in vitro differentiation of ameloblasts from iPSCs, developing a mineralizing enamel organoid system.

Spatial and single-cell transcriptional landscape of human cerebellar development

This study maps the spatial and single-cell transcriptional landscape of human cerebellar development, revealing cell-type-specific gene expression and implications for neurological disorders.

Targeted long-read sequencing resolves complex structural variants and identifies missing disease-causing variants

This paper introduces targeted long-read sequencing to identify complex structural variants and disease-causing mutations missed by conventional methods, improving diagnostic accuracy in genetic disorders.

ARMC9 and TOGARAM1 define a Joubert syndrome-associated protein module that regulates axonemal post-translational modifications and cilium stability

This study identifies a JBTS-associated protein module involving ARMC9 and TOGARAM1 that regulates ciliary stability and post-translational modifications.