Jeroen Breckpot

Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome study

This study identifies rare variants and digenic interactions associated with congenital heart disease using a large-scale exome case-control analysis.

Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion.

The paper analyzes chromosome 22q11.2 haplotypes to show how structural variations in specific regions correlate with microdeletion and inversion risks across populations.

Prevalence and spectrum of congenital heart disease in individuals with distal chromosome 22q11.22-23 deletions

This study examines congenital heart disease in individuals with distal 22q11.22-23 deletions, finding lower prevalence compared to proximal deletions and identifying specific cardiac anomalies.

A validated heart-specific model for splice-disrupting variants in childhood heart disease

The paper develops a heart-specific model to predict splice-disrupting variants in childhood heart disease, identifying variants missed by existing tools and showing higher accuracy in cardiac genes.

Nanopore sequencing-based episignature detection

This study demonstrates that nanopore sequencing can detect episignatures in developmental disorders, matching microarray results and identifying pathogenic variants.

Multiple paralogues and recombination mechanisms drive the high incidence of 22q11.2 Deletion Syndrome

The paper investigates the mechanisms behind the high incidence of 22q11.2 deletion syndrome by analyzing recombination events and paralogous structures in LCR22 regions.

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS and sporadic congenital heart disease

The paper identifies chromatin regulatory genes as genetic modifiers of conotruncal heart defects in 22q11.2 deletion syndrome and links them to sporadic congenital heart disease.

Whole genome sequencing delineates regulatory and novel genic variants in childhood cardiomyopathy

This study uses whole-genome sequencing to identify regulatory and novel genic variants contributing to childhood cardiomyopathy.

Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease

The paper identifies 21 candidate haploinsufficient genes associated with congenital heart disease through integrative analysis of CNVs and DNMs in CHD cases and controls.

Systems genetics analysis identify calcium signalling defects as novel cause of congenital heart disease

The paper identifies calcium signalling defects as a novel cause of congenital heart disease through whole exome sequencing and functional validation in zebrafish.

Deleterious genetic variants in NOTCH1 are a major contributor to the incidence of non-syndromic Tetralogy of Fallot

The paper identifies NOTCH1 variants as a major genetic contributor to non-syndromic Tetralogy of Fallot, with 6% of patients carrying deleterious variants.