Joshua L. Bonkowsky

Characterization of Leukodystrophy Penetrance Using Large-Scale Integration of Genomic Population Screening and Electronic Health Records

The paper integrates genomic screening with EHR data to assess leukodystrophy penetrance and phenotypic variability, finding reduced penetrance and broad phenotypic spectra in some cases.

Disease Outcomes in Boys with ABCD1 Variants Identified by Newborn Screening for X-ALD

The paper evaluates disease outcomes in boys with ABCD1 variants detected via newborn screening for ALD, finding that VUS variants are associated with lower rates of adrenal insufficiency and lower C26:0-LPC levels compared to pathogenic variants.

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy

This study identifies BLOC1S1 variants causing a hypomyelinating leukodystrophy with epileptic encephalopathy, showing impaired lysosomal and autophagic function.

ATAD1 Overexpression Enhances Mitochondrial and Peroxisomal Function in Zellweger Syndrome Disorder Models

This study shows that overexpressing ATAD1 improves mitochondrial and peroxisomal function in Zellweger Syndrome Disorder models.

A novel mouse model of cerebral adrenoleukodystrophy highlights NLRP3 activity in lesion pathogenesis

This paper develops a novel mouse model of cerebral adrenoleukodystrophy (cALD) that replicates human disease features and highlights NLRP3 inflammasome activation in lesion pathogenesis.

Identification of CNTN2 as a genetic modifier of PIGA-CDG through pedigree analysis of a family with incomplete penetrance and functional testing in Drosophila

Loss of TP73 function contributes to amyotrophic lateral sclerosis pathogenesis

The paper identifies TP73 variants as risk factors for ALS through exome sequencing and functional assays in cell lines and zebrafish.