Dennis Lal

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.

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.

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.

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.

The paper curates and analyzes 71,942 epilepsy-related variants from ClinVar using Mondo and ILAE classifications to identify age-specific genetic contributors and shared pathways.

This study analyzes 586 DEPDC5 variant carriers to estimate penetrance, phenotypic features, and treatment outcomes in DEPDC5-related epilepsy.

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

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

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.

This paper introduces Paralogue Annotation, a method using homologous protein variants to predict disease-causing missense variants with high precision.

The paper uses natural language processing and phenome-wide analysis to identify tachycardia as a significant comorbidity in CDKL5 deficiency disorder.

The paper identifies rare genetic variants associated with different epilepsy types, finding the most enrichment in non-acquired focal epilepsy.

This study identifies somatic and germline genetic variants in 474 epileptogenic brain lesions, revealing associations with specific epilepsy subtypes and informing clinical genetic screening.

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

This study identifies 114 genome-wide significant rare CNV-disease associations across 30 neurological disorders, revealing 38 novel triplosensitive genes and developing a model to predict dosage sensitivity.

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

The paper analyzes GABRB3 variants in a cohort of 71 individuals to identify genotype-phenotype correlations, finding associations between variant locations and specific clinical features.

The paper analyzes ultra-rare variants in epilepsy patients to identify gene-set enrichment patterns and differential impacts in neuronal gene categories.

This study identifies strong genetic correlations between genetic generalized epilepsy and background EEG oscillations, particularly in the beta frequency band, suggesting shared biological mechanisms.

This paper performs a systematic review and meta-analysis of 79 studies to compare diagnostic yields of next-generation sequencing in epilepsy, autism spectrum disorder, and intellectual disability, finding higher yields with exome sequencing.

The paper analyzes copy number variants in Latin American Parkinson's disease patients and finds enrichment of variants overlapping known Parkinson's genes, particularly PARK2, associated with early-onset disease.

The paper predicts functional effects of missense variants in voltage-gated sodium and calcium channels using machine learning, achieving high accuracy in distinguishing gain and loss of function variants.

This study identifies pathogenic sodium channel variants in SUDP patients and shows they cluster at conserved amino acid sites across the SCN gene family.

The paper analyzes missense variants in 1,330 disease genes using 3D protein structures to identify mutational hotspots and their functional impact.

This study examines the relationship between soluble TREM2 and inflammatory markers in young adults with Down syndrome compared to neurotypical controls, finding elevated sTREM2 and positive correlations with cytokines in DS.

The paper identifies regions in protein sequences enriched for pathogenic variants using gene family alignments and demonstrates their enrichment in neurodevelopmental disorder de novo variants and ClinVar pathogenic classifications.

This study identifies ultra-rare genetic variants associated with different epilepsy types using whole-exome sequencing in 17,634 individuals.