Sarah McKeown Ruggiero

DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneity

The paper analyzes a large DNM1 cohort to identify mutational hotspots and genotype-phenotype correlations in DNM1-related disorder.

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.

Characterizing SCN1A-Related Disorders Using Real-World Data Across 681 Patient-Years

This study characterizes SCN1A-related disorders using real-world data from 100 individuals over 681 patient-years, detailing seizure patterns, comorbidities, and treatment changes.

Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders

The paper analyzes 11,125 trio exomes to explore the relationship between genetic variants and phenotypic features in neurodevelopmental disorders, finding significant clinical similarities and phenotypic gradients.

Variants in BSN, encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic range

The paper identifies BSN variants as a cause of a new neurodevelopmental disorder with a broad phenotypic range, using clinical data and computational phenotyping.

Clinical signatures of genetic epilepsy precede diagnosis in electronic medical records of 32,000 individuals

This study identifies clinical features preceding genetic epilepsy diagnosis in EMR data from 32,000 individuals, showing early signs can inform earlier treatment.

Optimizing clinical interpretability of functional evidence in epilepsy-related ion channel variants

The paper develops a Bayesian framework to integrate functional evidence into clinical variant interpretation for epilepsy-related ion channel genes, identifying key parameters that influence pathogenicity classification.

The clinical and genetic spectrum of paediatric speech and language disorders in 52,143 individuals

This study analyzes 52,143 individuals to characterize paediatric speech and language disorders, identifying genetic associations and clinical patterns.

Delineating clinical and developmental outcomes in STXBP1-related disorders

This study outlines the longitudinal epilepsy and developmental trajectories in STXBP1-related disorders using clinical and standardized assessments, revealing subgroup differences and informing future therapeutic strategies.

The genetic spectrum of febrile infection-related epilepsy syndrome (FIRES) and refractory status epilepticus

This paper analyzes the clinical and genetic landscape of FIRES and RSE, finding 36% of RSE patients have genetic causes, while FIRES remains largely undiagnosed.

A disease concept model for STXBP1-related disorders

This paper develops a disease concept model for STXBP1-related disorders by analyzing qualitative interviews to map symptoms and their impacts across clinical domains and age groups.

A recurrent de novo splice site variant involving DNM1 alternative exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism

The paper identifies a recurrent de novo splice site variant in DNM1 exon 10a causing severe DEE through a dominant-negative mechanism, highlighting the importance of considering alternative isoforms in disease causation.

Loss of Grin2a Causes a Transient Delay in the Electrophysiological Maturation of Hippocampal Parvalbumin Interneurons

This study shows that loss of Grin2a causes delayed electrophysiological maturation of hippocampal parvalbumin interneurons, leading to transient seizure susceptibility in mice.