Allan Micheil Innes

The paper validates a DNA methylation episignature for VACTERL and finds evidence of epigenomic convergence across related embryonic malformation conditions.

This study uses whole-genome sequencing to analyze 9p deletion and duplication syndromes, identifying key genes and structural variants, and introduces a machine learning model for syndrome prediction.

The paper identifies CELF2 variants causing cytoplasmic mislocalization linked to neuronal hyperexcitability, learning deficits, and seizures.

This study shows that partial loss of DOT1L causes transcriptional, morphological, and behavioral defects in neurons across multiple models.

This study identifies MARK2 variants as a cause of autism spectrum disorder by showing they disrupt the WNT/β-catenin signaling pathway and impair neural development.

The paper identifies six rare de novo missense variants in WDR5 associated with neurodevelopmental disorders and highlights their impact on COMPASS family protein interactions.

This study shows Hnrnpul1 loss of function in zebrafish causes skeletal and limb defects and links it to human congenital limb malformations.

This study identifies de novo coding variants in the AGO1 gene as a cause of a novel monogenic neurodevelopmental disorder with intellectual disability and associated behavioral features.

This study identifies DDX3X mutations as causing neurodevelopmental disorders by disrupting RNA metabolism and neurogenesis during fetal cortical development.

The paper identifies PISD as a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes through exome sequencing and functional analysis of patient fibroblasts.