Supplementary Figure and Tables. Supplementary Figure 1: Gene ontologies for genes identified in 35 CNVs of interest; Supplementary Table 1: Rare coding region CNVs detected in the 225 patient heterotaxy cohort; Supplementary Table 2: Genes identified in rare coding region CNVs detected in the 225 patient heterotaxy cohort; Supplementary Table 3: Rare copy number variants at loci previously associated with CHD; Supplementary Table 4: Rare CNVs identified at loci associated with known microdeletion / duplication syndromes but not heterotaxy or CHD
Figure S1. Knockdown efficiency of splice blocking and translation blocking MOs in zebrafish embryos...
The 22q11.2 deletion syndrome (22q11DS; velocardiofacial/DiGeorge syndrome; VCFS/DGS; MIM #192430; 1...
RATIONALE: Congenital heart disease (CHD) is among the most common birth defects. Most cases are of ...
Table S1. MO sequences, injection doses, and total embryo numbers analyzed for heart looping and gen...
Previous studies have shown that copy-number variants (CNVs) contribute to the risk of complex devel...
Previous studies have shown that copy-number variants (CNVs) contribute to the risk of complex devel...
Copy number variation in congenital heart defects The aim of this thesis was to advance our insight...
Congenital heart disease (CHD) is the most common congenital malformation, with evidence of a strong...
Genomic disorders and rare copy number abnormalities are identified in 15–25% of patients with syndr...
Studies addressing the role of somatic copy number variation (CNV) in the genesis of congenital hear...
Copy number variations (CNVs) can modulate phenotypes by affecting protein-coding sequences directly...
Copy number variants (CNVs) are major variations contributing to the gene heterogeneity of congenita...
Array comparative genomic hybridization (aCGH) has led to an increased detection of causal chromosom...
Additional file 1. The frequencies of NCA, P/LP CNV and ROH among different types of CHD
Rare pathogenic copy number variants (CNVs) are genetic rearrangements that have been associated wit...
Figure S1. Knockdown efficiency of splice blocking and translation blocking MOs in zebrafish embryos...
The 22q11.2 deletion syndrome (22q11DS; velocardiofacial/DiGeorge syndrome; VCFS/DGS; MIM #192430; 1...
RATIONALE: Congenital heart disease (CHD) is among the most common birth defects. Most cases are of ...
Table S1. MO sequences, injection doses, and total embryo numbers analyzed for heart looping and gen...
Previous studies have shown that copy-number variants (CNVs) contribute to the risk of complex devel...
Previous studies have shown that copy-number variants (CNVs) contribute to the risk of complex devel...
Copy number variation in congenital heart defects The aim of this thesis was to advance our insight...
Congenital heart disease (CHD) is the most common congenital malformation, with evidence of a strong...
Genomic disorders and rare copy number abnormalities are identified in 15–25% of patients with syndr...
Studies addressing the role of somatic copy number variation (CNV) in the genesis of congenital hear...
Copy number variations (CNVs) can modulate phenotypes by affecting protein-coding sequences directly...
Copy number variants (CNVs) are major variations contributing to the gene heterogeneity of congenita...
Array comparative genomic hybridization (aCGH) has led to an increased detection of causal chromosom...
Additional file 1. The frequencies of NCA, P/LP CNV and ROH among different types of CHD
Rare pathogenic copy number variants (CNVs) are genetic rearrangements that have been associated wit...
Figure S1. Knockdown efficiency of splice blocking and translation blocking MOs in zebrafish embryos...
The 22q11.2 deletion syndrome (22q11DS; velocardiofacial/DiGeorge syndrome; VCFS/DGS; MIM #192430; 1...
RATIONALE: Congenital heart disease (CHD) is among the most common birth defects. Most cases are of ...