Dustin Baldridge

This study characterizes MYT1L-Related Neurodevelopmental Disorder using data from the Brain Gene Registry, identifying cognitive, behavioral, and clinical features in affected individuals.

The paper identifies novel AXIN2 variants causing expanded phenotypes in humans and validates their pathogenicity using human, mouse, and fly models.

This paper optimizes variant prioritization parameters for Exomiser and Genomiser to improve diagnostic yield in rare disease cases using WES and WGS data.

This study identifies de novo ATP5F1A variants causing neurological disorders through dominant negative mechanisms, expanding the known phenotypic and genotypic spectrum of complex V deficiency.

The paper presents a joint genomic analysis of UDN patients using whole genome sequencing and new statistical methods to prioritize disease genes, revealing new disease associations and releasing a software tool for cohort analysis.

The paper identifies RFC1 AAGGG repeat expansions in idiopathic peripheral neuropathy patients using a new computational pipeline and finds both heterozygous and homozygous expansions contribute to the condition.

The paper functionally validates a de novo PPP5C variant in a human proband using C. elegans, showing it causes loss-of-function and is likely responsible for the patient's phenotypes.

This study uses iPSC models to show that a 15q13.3 duplication causes distinct neurodevelopmental and functional anomalies in an affected individual but not their unaffected mother, while both share increased cholinergic activity.

The paper identifies de novo PRKAR1B variants in six individuals with neurodevelopmental disorder, autism, apraxia, and reduced pain sensitivity.

The paper identifies de novo variants in EIF2AK1 and EIF2AK2 associated with neurodevelopmental disorders and leukoencephalopathy, showing similar pathogenic mechanisms to CACH/VWM.

This study models multiplex autism using iPSC-derived neurons from a family with varying ASD liability, identifying morphological, physiological, and transcriptomic changes linked to polygenic susceptibility.

This study identifies and characterizes 11 cases of TET3 deficiency, a new Mendelian disorder of DNA demethylation, associated with intellectual disability and developmental delays.