Adeline L. Vanderver

This paper presents a high-throughput platform for screening peptide-guided protein degraders in mammalian cells, demonstrating their ability to reduce target protein abundance and function.

The paper identifies six patients with biallelic IRAK4 variants causing severe neurological autoinflammation without immunodeficiency, expanding the known phenotype of IRAK4-related disease.

This study shows that deleting TUBB4A in human iPSCs reduces cell-autonomous deficits in oligodendrocytes and neurons associated with H-ABC, suggesting it could be a therapeutic strategy for TUBB4A-related leukodystrophy.

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

This study shows that suppressing Tubb4a with an ASO improves symptoms and extends lifespan in a mouse model of H-ABC leukodystrophy.

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

The paper identifies biallelic variants in RNU4-2 causing a recessive neurodevelopmental syndrome with distinct white matter changes, expanding the known genotypic and phenotypic spectrum of RNU4-2-related disorders.

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.

The paper identifies a common intronic SVA_E insertion in ASPA as the most frequent pathogenic variant in Canavan disease using long-read sequencing.

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.