Andrea Lynne Gropman

Functional Profiling of 2,193 ASS1 Missense Variants: Insights into Variant Pathogenicity and Epistatic Interactions in Citrullinemia Type I

The paper functionally profiles 2193 ASS1 missense variants to determine their pathogenicity and epistatic interactions in Citrullinemia Type I.

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

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

Exon-skipping and genetic compensation due to biallelic mutations in the neurodevelopmental disease gene LNPK

This study identifies compound heterozygous splice site mutations in LNPK causing neurodevelopmental syndrome, showing exon-skipping and genetic compensation through NMD pathway inhibition.

Neuroanatomical Features of NAA10- and NAA15-Related Neurodevelopmental Syndromes

This study analyzes neuroimaging data from patients with NAA10- and NAA15-related neurodevelopmental syndromes to identify anatomical abnormalities and their correlation with clinical outcomes.

The functional impact of 1,570 SNP-accessible missense variants in human OTC

The paper develops a high-throughput functional assay to assess the impact of 1,570 OTC missense variants, improving variant interpretation using ACMG/AMP guidelines.

Latent class analysis identifies distinctive behavioral subtypes in children with fragile X syndrome

The paper uses latent class analysis to identify distinct behavioral subtypes in children with fragile X syndrome, revealing clinically meaningful groups with unique cognitive and behavioral profiles.

Integrated Proteomic and Metabolomic Analyses of the Mitochondrial Neurodegenerative Disease MELAS

This study integrates proteomic and metabolomic analyses of patient-derived fibroblasts to identify dysregulated pathways in MELAS, revealing OXPHOS defects and arginine biosynthesis downregulation.