Christel Depienne

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.

Guidance for clinical variant classification in genes for spliceosomal small nuclear RNAs

The paper provides guidance for classifying variants in snRNA genes and introduces RNUdb, a tool to support variant annotation and classification.

De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms

The paper identifies de novo LDB1 variants linked to distinct neurodevelopmental phenotypes based on variant location and pathomechanisms, confirmed through in vitro and in vivo studies.

Genome-Wide Association Analysis of Tic Disorders Reveals 6 Independent Risk Loci and Highlights Tic-Associated Cell Types and Brain Circuitry

This study identifies six genome-wide significant risk loci for tic disorders and links genetic risk to specific brain cell types and circuits.

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.

Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

The paper identifies biallelic variants in RNU4-2 causing a recessive neurodevelopmental syndrome with distinct white matter changes, expanding the known genotypic and phenotypic spectrum of RNU4-2-related disorders.

Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders

This study uses saturation genome editing to analyze RNU4-2 variants, identifying functional impacts and redefining the ReNU syndrome critical region.

Advancing molecular, phenotypic and mechanistic insights of FGF14 pathogenic expansions (SCA27B)

This study identifies the complete sequences of pathogenic and non-pathogenic FGF14 repeat expansions in patients with cerebellar ataxia, revealing a lower pathogenic threshold and providing mechanistic insights into disease causation.

Systematic analysis and prediction of genes associated with disorders on chromosome X

The paper systematically analyzes chrX genes to predict disease associations, identifying 235 genes likely involved in disorders and reporting damaging variants in CDK16 and TRPC5 in patients with intellectual disability or autism.

Genome-wide Association Study identifies two novel loci for Gilles de la Tourette Syndrome

This study identifies two novel genetic loci associated with Tourette Syndrome through a genome-wide meta-analysis and integrates functional data to implicate specific genes.

Loss of adipocyte phospholipase gene PLAAT3 causes lipodystrophy and insulin resistance due to inactivated arachidonic acid-mediated PPAR signaling

The paper identifies PLAAT3 loss-of-function mutations in humans causing lipodystrophy and insulin resistance by impairing arachidonic acid-mediated PPAR signaling in adipose tissue.

Synaptic processes and immune-related pathways implicated in Tourette Syndrome

This study identifies gene sets associated with Tourette Syndrome using genome-wide data, highlighting synaptic and immune-related pathways.

Rare copy number variants in NRXN1 and CNTN6 increase risk for Tourette syndrome

The paper identifies two rare copy number variants, NRXN1 and CNTN6, significantly increasing the risk of Tourette syndrome in a European ancestry sample.