Damien Sanlaville

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.

This study evaluates genome-wide DNA methylation analysis in genetically unsolved DEEs, identifying 10 causative or candidate genetic causes and refining a CHD2 episignature.

The paper identifies a novel neurodevelopmental disorder caused by de novo deletion of the lncRNA CHASERR, showing its role in regulating CHD2 expression and causing developmental and epileptic encephalopathy.

The paper investigates the association between transposable element expression and Y chromosome number in humans, suggesting a toxic Y effect on male longevity.

CNVscore calculates pathogenicity scores for copy number variants with uncertainty estimates, improving the assessment of CNV pathogenicity in rare disease cohorts.

The paper reports a de novo alpha satellite DNA insertion near an ancestral centromere, showing it lacks centromeric functionality and does not disrupt genes or methylation.

The paper analyzes chromoanagenesis breakpoints in constitutional and cancer cases, finding enrichment in late-replicating chromatin and suggesting similar mechanisms for both.

This study evaluates high-resolution optical mapping for detecting chromosomal aberrations in 85 samples, achieving 100% concordance with standard tests for non-centromeric breakpoints.

This study identifies modifier genes in Phelan-McDermid syndrome patients by analyzing 22q13 rearrangements and their association with clinical features.