Gianpiero L. Cavalleri

Long-read genome sequencing resolves complex structural variants in exome-negative developmental and epileptic encephalopathy

This study evaluates the diagnostic value of long-read genome sequencing in DEE patients, finding it particularly effective for resolving complex structural variants not detected by short-read sequencing.

Genomic impact of the second plague pandemic on three human populations

This study analyzes ancient DNA from three European sites to assess the genomic impact of the second plague pandemic, finding no strong positive selection but evidence of reduced long-range immigration post-pandemic.

Long-Read Sequencing of the MUC1 VNTR: Genomic Variation, Mutational Landscape, and Its Impact on ADTKD Diagnosis and Progression

This study uses long-read sequencing to characterize MUC1 VNTR variation in ADTKD-MUC1, identifying frameshift mutations and their association with disease progression.

Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsy

This study functionally classifies HCN1 variants in patients with neurodevelopmental disorders, finding genotype-phenotype correlations and potential therapeutic targets.

Transcription factor binding and individual genetic risk for valproate teratogenicity

The paper investigates how genetic variants affecting transcription factor binding contribute to valproate-induced birth defects and identifies EP300 as a key regulator involved in this process.

Predicting Drug Response with Multi-Task Gradient-Boosted Trees in Epilepsy

This paper predicts drug response in epilepsy using multi-task gradient-boosted trees, identifying key genomic and clinical features that influence treatment outcomes.

Associations between epilepsy-related polygenic risk and brain morphology in childhood

The paper examines associations between epilepsy-related polygenic risk scores and brain morphology in children, finding PRS-related cortical thinning linked to structural patterns in TLE-HS patients.

A genetic perspective on the recent demographic history of Ireland and Britain

The paper uses genetic data to infer demographic history in Ireland and Britain, finding population bottlenecks, migration patterns, and surname enrichments in specific communities.

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

This study identifies shared and distinct ultra-rare genetic risk factors for epilepsy subtypes using whole-exome sequencing of 20,979 patients and 33,444 controls.

A worldwide ENIGMA study on epilepsy-related gray and white matter compromise across the adult lifespan

This study examines age-related changes in grey and white matter in TLE patients across the adult lifespan, finding accelerated aging effects after age 55.

Population History and Genome Wide Association Studies of Birth Weight in a Native High Altitude Ladakhi Population

The paper investigates birth weight in a high altitude Ladakhi population using GWAS and ancestry analysis, finding evidence of Tibetan ancestry and nominal associations with birthweight-related genes.

Characterization of the Y Chromosome in Newfoundland and Labrador: Evidence of a Founder Effect

The paper analyzes Y chromosome data from Newfoundland and Labrador to show genetic evidence of a founder effect, with haplotypes primarily from English and Irish sources and some contributions from Basque, French, Portuguese, and Spanish populations.

Genome-wide meta-analysis of over 29,000 people with epilepsy reveals 26 loci and subtype-specific genetic architecture

This study conducts a genome-wide meta-analysis of over 29,000 people with epilepsy, identifying 26 loci and revealing subtype-specific genetic architectures.

Newfoundland and Labrador: A mosaic founder population of an Irish and British diaspora from 300 years ago.

This study analyzes the genetic structure of Newfoundland and Labrador using SNP data, revealing coastal community clustering, religious denomination associations, and a recent population bottleneck.

Topographic divergence of atypical cortical asymmetry and regional atrophy patterns in temporal lobe epilepsy: a worldwide enigma study

This study identifies divergent patterns of atypical cortical asymmetry and regional atrophy in temporal lobe epilepsy using MRI data from a large multi-site cohort.

Structural network alterations in focal and generalized epilepsy follow axes of epilepsy risk gene expression: An ENIGMA study

This study links structural network changes in epilepsy syndromes to risk gene expression patterns using ENIGMA data.

Ultra-rare constrained missense variants in the epilepsies: Shared and specific enrichment patterns in neuronal gene-sets

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

A systems-level analysis highlights microglial activation as a modifying factor in common forms of human epilepsy

The paper identifies microglial activation as a factor contributing to cortical thinning in epilepsy by integrating neuroimaging and gene expression data.

White matter abnormalities across different epilepsy syndromes in adults: an ENIGMA Epilepsy study

This study identifies white matter microstructural differences across epilepsy syndromes using diffusion MRI data from a large multicenter cohort.

Network-based atrophy modelling in the common epilepsies: a worldwide ENIGMA study

This study identifies network associations with atrophy patterns in epilepsy using neuroimaging and connectome analysis across 1,021 patients and 1,564 controls.

Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

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

Systematic re-annotation of 191 genes associated with early-onset epilepsy unmasks de novo variants linked to Dravet syndrome in novel SCN1A exons

The paper updates gene annotations for 191 epilepsy genes, reclassifying variants and identifying new de novo SCN1A variants in Dravet syndrome patients.