Ludovica Montanucci

Genome-wide association study of copy number variations in Parkinson's disease

This study conducts a genome-wide association study of copy number variations in Parkinson's disease, identifying a significant PRKN deletion but limited replication in an independent dataset.

Underutilization of Syndrome-Specific ICD-10 Codes for Genetic Epilepsies: Implications for Precision Medicine

This study evaluates the underutilization of syndrome-specific ICD-10 codes for monogenic epilepsies in clinical practice, finding that less than two-thirds of patients with molecular diagnoses were assigned these codes.

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification

The paper introduces Gene Portals, a framework that integrates clinical, functional, and structural data for rare disease variant classification, demonstrating its utility across five gene-specific portals.

Age-aware genotype-phenotype architecture across 87 genetic neurodevelopmental disorders

This study creates an age-aware genotype-phenotype atlas for 87 neurodevelopmental disorders using data from the Simons Searchlight cohort, identifying gene-specific risk profiles and age-dependent penetrance patterns.

Molecular dynamics simulations reveal molecular mechanisms for the gain and loss of function effects of four SCN2A variants

The paper uses molecular dynamics simulations to analyze four SCN2A variants, revealing how they affect channel structure and function, with R937C being the most unstable.

Pathogenic paralogous variants can be used to apply the ACMG PS1 and PM5 variant interpretation criteria

The paper introduces para-PS1/PM5 criteria by incorporating pathogenic paralogous variants to improve variant classification under ACMG guidelines, increasing classifiable amino acids 3.6-fold.

Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes

The paper identifies biological properties of ion channel residues associated with variant pathogenicity and links them to clinical phenotypes and functional assays.

CNV-ClinViewer: Enhancing the clinical interpretation of large copy-number variants online

CNV-ClinViewer provides a web tool for clinical interpretation of large copy-number variants by integrating patient and population data with biomedical annotations.

Influence of pathway topology and functional class on the molecular evolution of human metabolic genes

The paper analyzes the molecular evolution of human metabolic genes, finding that pathway topology and functional class influence selective pressures, with core genes being more conserved and outer layer genes more plastic.