Rebecca C. Ahrens‐Nicklas

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

This study corrects a common pathogenic variant in MMA using adenine base editing in hepatocytes, showing efficient in vitro editing with minimal off-target effects.

The paper identifies a pathogenetic mechanism for RPL3L-linked dilated cardiomyopathy, showing that gain-of-toxicity variants in muscle-specific ribosomes cause severe neonatal heart failure.

This study develops a brain-specific MSUD mouse model to investigate the role of brain-intrinsic BCAA metabolism in chronic neurologic disease, finding elevated BCAA levels and functional deficits.

This paper develops a novel lentiviral vector for gene therapy of MLD that achieves high ARSA activity with minimal genomic integrations, improving safety and efficacy in preclinical models.

NeuroTri2-VISDOT provides a web-based tool to explore second trimester human single-cell RNA sequencing data for Mendelian neurodevelopmental disorders, aiding in model system selection.

This study shows that SUMF1 gene therapy via hematopoietic stem cell transplant improves biochemical and functional outcomes in a mouse model of Multiple Sulfatase Deficiency.

This study challenges the assumption that BCAA supplementation benefits BCKDK deficiency by showing it worsens neurodevelopmental issues in a mouse model.

This study evaluates hybrid guide RNAs to improve the specificity and efficiency of adenine base editing therapies for genetic disorders.

The paper identifies CNVs in KOLF2.1J iPSCs linked to neurological disorders, showing they arose in vitro and affect gene expression in neural cells.

The paper evaluates Mendelian causes of pediatric neurodegenerative disorders in a cohort of 69 patients, finding 42 genetic diagnoses and 32 unique disorders.

This study shows that restoring Cln3 in neurons normalizes brain network dysfunction in CLN3 disease despite persistent storage accumulation, suggesting neuronal loss-of-function, not storage, drives neurologic symptoms.