Renzo Guerrini

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.

Biallelic protein truncating EXOSC6 variants cause a neurodevelopmental disorder with cerebellar atrophy, ataxia, and global developmental delay

The paper reports a patient with a neurodevelopmental disorder caused by biallelic EXOSC6 variants, expanding the known spectrum of exosomopathies.

Sex-related structural alterations across common epilepsies: a worldwide ENIGMA study

This study examines sex differences in structural brain alterations in common epilepsies using neuroimaging data from a large international cohort, finding some regional differences but no significant sex-by-diagnosis interactions.

Non-syndromic autism-associated SCN2A variants selectively exert dominant-negative effects on NaV1.2 channels.

The paper investigates the functional impact of SCN2A variants associated with non-syndromic autism, finding that only non-syndromic ASD variants cause dominant-negative effects on Nav1.2 channels.

Standardized transcriptome analysis improves rare disease diagnosis in the pan-European Solve-RD consortium

The paper presents a standardized RNA-seq analysis framework for rare disease diagnosis, identifying molecular diagnoses in 7.7% of previously undiagnosed cases.

Quantitative cytoarchitectural phenotyping of deparaffinized human brain tissues

This paper develops a 3D imaging pipeline for automated quantitative cellular phenotyping of FFPE human brain tissues, revealing cytoarchitectural features in patients with cortical development malformations.

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 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.

Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA-Epilepsy study

This study identifies subregional cerebellar atrophy patterns in epilepsy syndromes using MRI data from 1,602 patients and 1,022 controls, finding significant volume loss in posterior lobe regions.

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

The paper identifies monoallelic DHX9 variants as a cause of neurodevelopmental disorders and Charcot-Marie-Tooth disease, showing genotype-phenotype correlations and cellular dysfunction.

Comprehensive multiomic profiling of somatic mutations in malformations of cortical development

This study identifies 69 mutated genes in malformations of cortical development using multiomic profiling of 317 brain resections and single-cell sequencing.

Drosophila functional screening of de novo variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases

The paper functionally tests ASD missense variants in Drosophila, finding 38% caused functional alterations and identifying GLRA2 as a cause of neurodevelopmental phenotypes.

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.

Analysis of common PI3K-AKT-MTOR mutations in pediatric surgical epilepsy by droplet digital PCR reveals novel clinical and molecular insights

The paper uses ddPCR to analyze PI3K-AKT-MTOR mutations in pediatric epilepsy cases, finding associations between specific mutations and clinical phenotypes.

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.

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

The paper characterizes the clinical and molecular features of 36 individuals with SETD1B variants, identifying a core phenotype of developmental delay and variable epilepsy, with male predominance and potential sex-linked effects.

Pathogenic MAST3 variants in the STK domain are associated with epilepsy

The paper identifies de novo MAST3 variants in individuals with epilepsy, showing they may confer gain-of-function and are restricted to excitatory neurons in the cortex.

Functional characterization of RELN missense mutations involved in recessive and dominant forms of Neuronal Migration Disorders

This study functionally characterizes RELN missense mutations in both recessive and dominant neuronal migration disorders, showing a genotype-phenotype correlation.

A combined pipeline for quantitative analysis of human brain cytoarchitecture

This paper introduces a pipeline for 3D analysis of human brain cytoarchitecture at micrometer resolution, enabling quantitative evaluation of neuronal density and volume across different brain regions and subjects.

Enhanced targeted resequencing by optimizing the combination of enrichment technology and DNA fragment length

The paper evaluates how DNA fragment length and enrichment technology affect genotypability in whole-exome sequencing, finding that longer fragments improve callable bases and genotypability across different platforms.

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.

De novo Variants In Neurodevelopmental Disorders With Epilepsy

The paper identifies de novo variants in neurodevelopmental disorders with epilepsy and finds associations with specific genes and clinical features.

Gene family information facilitates variant interpretation and identification of disease-associated genes

The paper develops a paralog conservation score to identify disease-associated genes and shows that disease variants are enriched at conserved sites across gene families.