Austin A Larson

A multi-center retrospective chart analysis identifying clinical, biochemical, and radiographic signatures of short-chain enoyl-CoA hydratase (ECHS1) deficiency

This study identifies clinical, biochemical, and radiographic features of ECHS1 deficiency through a multi-center retrospective analysis of 113 patients, highlighting differences in onset and outcomes across age groups.

The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial disease

Four mitochondrial functional tests in fibroblasts show good sensitivity and excellent specificity for diagnosing primary mitochondrial disease.

Splice-switching antisense oligonucleotides correct cryptic exon inclusion and restore SDCCAG8 protein in Bardet-Biedl Syndrome

This paper identifies ASOs that correct cryptic exon inclusion in SDCCAG8, restoring protein expression in BBS patients.

Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy and hypermobility syndrome: Further delineation of the 17p13.3 microdeletion spectrum

The paper investigates 17p13.3 deletions between YWHAE/CRK and PAFAH1B1, identifying white matter lesions and hypermobility, and narrows the critical region to 345 kb with RTN4RL1 as a candidate gene.