J. Breckpot

T. de Ravel, A. Corveleyn, L. de Catte, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot

Kathryn E. Hentges, Matthieu J. Miossec, G. Lathrop, 2019, Circulation research.

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

Kathryn E. Hentges, Matthieu J. Miossec, G. Bourque, 2018, bioRxiv.

Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor.

K. Devriendt, J. Vermeesch, P. Sienaert, 2016, European journal of medical genetics.

Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

R. Redon, K. Strauch, P. Lambiase, 2022, Nature Genetics.

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

M. Nóbrega, T. Meitinger, M. Lathrop, 2021, Circulation research.

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

M. Hurles, K. Devriendt, M. Lathrop, 2011, Human molecular genetics.

Challenges of Interpreting Copy Number Variation in Syndromic and Non-Syndromic Congenital Heart Defects

Y. Moreau, L. Tranchevent, K. Devriendt, 2011, Cytogenetic and Genome Research.

Array comparative genomic hybridization as a diagnostic tool for syndromic heart defects.

H. Peeters, T. de Ravel, K. Devriendt, 2010, The Journal of pediatrics.

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16

S. Heath, G. Lathrop, M. Farrall, 2013, Nature Genetics.

A complex submicroscopic chromosomal imbalance in 19p13.11 with one microduplication and two microtriplications.

K. Devriendt, J. Vermeesch, B. Thienpont, 2008, European journal of medical genetics.

Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions

A. Bassett, B. Marino, E. Boot, 2023, Genes.

Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins.

B. Morrow, K. Devriendt, J. Vermeesch, 2019, Human molecular genetics.

Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2

E. Zackai, C. Marshall, D. Zheng, 2018, Human molecular genetics.

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

Deanne M. Taylor, E. Zackai, K. Coleman, 2016, Human Genetics.

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.

Stephan Eliez, Tingwei Guo, Xiaowu Gai, 2015, American journal of human genetics.

Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1

Y. Moreau, L. Tranchevent, K. Devriendt, 2012, American journal of medical genetics. Part A.

Copy-Number Variation of the Glucose Transporter Gene SLC 2 A 3 and Congenital Heart Defects in the 22 q 11 . 2 Deletion Syndrome

E. Zackai, T. Shaikh, K. Coleman, 2022 .

Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot

S. Heath, G. Lathrop, A. Moorman, 2013, Human molecular genetics.

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo‐cardio‐facial/digeorge/22q11.2 deletion syndrome patients

Mark J. Bowser, Jonathan H. Chung, E. Zackai, 2011, Human mutation.

Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy

A. Need, C. Tregidgo, R. Weintraub, 2022, npj Genomic Medicine.

Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy

S. Scherer, R. Weintraub, Marta Melé, 2022, NPJ genomic medicine.

European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases

E. Ashley, A. Bollmann, E. Kaufman, 2022, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

E. Ashley, E. Kaufman, E. Behr, 2022, Heart rhythm.

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

R. Redon, P. Lambiase, P. Ellinor, 2020, Genetics in medicine : official journal of the American College of Medical Genetics.

Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

T. Werge, P. Ellinor, S. Priori, 2020, Circulation.

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

Alex V. Kotlar, Sunny X. Tang, E. Zackai, 2020, Molecular Psychiatry.

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

R. Siebert, J. Coselli, K. Devriendt, 2020, bioRxiv.

Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge

H. Peeters, K. Devriendt, J. Vermeesch, 2022, European Journal of Human Genetics.

DISC1 duplication in two brothers with autism and mild mental retardation

H. Peeters, K. Devriendt, J. Steyaert, 2010, Clinical genetics.

Congenital anterolateral bowing of the tibia with ipsilateral polydactyly of the great toe associated with cerebral cyst: a new entity?

L. Lagae, K. Devriendt, B. Thienpont, 2009, Clinical dysmorphology.

Collaboratively charting the gene-to-phenotype network of human congenital heart defects

Yves Moreau, Marc Gewillig, Roland Barriot, 2010, Genome Medicine.

Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

S. Cheung, K. Devriendt, S. Gimelli, 2009, Journal of Medical Genetics.

a novel recognisable syndrome deletion region on chromosome 16 p 13 . 3 cause Taybi − Duplications of the critical Rubinstein

S. Cheung, K. Devriendt, S. Gimelli, 2022 .

Return of genetic and genomic research findings: experience of a pediatric biorepository

M. Reuter, R. Kim, R. Jobling, 2019, BMC Medical Genomics.

Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy

K. Devriendt, G. Matthijs, A. Corveleyn, 2017, European Journal of Human Genetics.

Next-generation sequencing in prenatal setting: Some examples of unexpected variant association.

T. de Ravel, K. Devriendt, L. Lewi, 2020, European journal of medical genetics.

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

T. Strom, K. Devriendt, J. Clayton-Smith, 2018, European Journal of Human Genetics.

Congenital nasal piriform aperture stenosis as a rare manifestation of monosomy 1p36.

K. Devriendt, J. Vermeesch, R. Hermans, 2010, Clinical dysmorphology.

Abnormal lung features on prenatal ultrasound and postnatal outcome

R. Devlieger, L. Breysem, P. Moerman, 2010 .

Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate

K. Devriendt, H. Firth, J. Vermeesch, 2015, European Journal of Human Genetics.

Haploinsufficiency of TAB2 causes congenital heart defects in humans.

Y. Moreau, P. Van Loo, L. Tranchevent, 2010, American journal of human genetics.

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

T. Strom, K. Devriendt, J. Clayton-Smith, 2018, European Journal of Human Genetics.

Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings

H. Peeters, K. Devriendt, A. Corveleyn, 2018, PLoS genetics.

Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1.

K. Devriendt, J. Vermeesch, B. Thienpont, 2009, European journal of medical genetics.

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.

G. J. Swaminathan, M. Hurles, R. Siebert, 2016, American journal of human genetics.

Duplication of the TGFBR1 gene causes features of Loeys-Dietz syndrome.

K. Devriendt, J. Vermeesch, F. de Zegher, 2010, European journal of medical genetics.

BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome.

Y. Moreau, L. Tranchevent, K. Devriendt, 2012, European journal of medical genetics.

A novel genomic disorder: a deletion of the SACS gene leading to Spastic Ataxia of Charlevoix–Saguenay

K. Devriendt, J. Vermeesch, S. V. Vooren, 2008, European Journal of Human Genetics.

Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

H. Mefford, I. Thiffault, T. Pastinen, 2021, Genetics in Medicine.

The clinical relevance of intragenic NRXN1 deletions

H. Peeters, L. Gallagher, T. de Ravel, 2017, Journal of Medical Genetics.

Phenotypic spectrum of Au–Kline syndrome: a report of six new cases and review of the literature

K. Devriendt, H. Stewart, Marilyn C. Jones, 2018, European Journal of Human Genetics.

Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks

E. Zackai, K. Lage, P. Donahoe, 2012, American journal of medical genetics. Part A.

Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease

S. Brunak, S. G. Ellesøe, J. Izarzugaza, 2019, bioRxiv.

Cross‐sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study

I. Zink, J. Breckpot, A. Swillen, 2021, American journal of medical genetics. Part A.

Genotype–phenotype relationship and risk stratification in loss‐of‐function SCN5A mutation carriers

J. Ector, C. Garweg, A. Corveleyn, 2018, Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc.

Title 1 Distinct genetic architectures for syndromic and nonsyndromic congenital 2 heart defects identified by exome sequencing 3

Tomas W. Fitzgerald, G. J. Swaminathan, J. Danesh, 2016 .

Severe biventricular hypertrophy in MELAS mitochondrial disease.

S. Seneca, I. Buysschaert, J. Breckpot, 2017, European Heart Journal-Cardiovascular Imaging.

Individualized corrected QT interval is superior to QT interval corrected using the Bazett formula in predicting mutation carriage in families with long QT syndrome.

H. Heidbuchel, J. Ector, C. Garweg, 2017, Heart rhythm.

Association between C677T Polymorphism of Methylene Tetrahydrofolate Reductase and Congenital Heart Disease: Meta-Analysis of 7,697 Cases and 13,125 Controls Running title: Mamasoula: MTHFR C677T polymorphism and congenital heart disease

G. Lathrop, M. Farrall, D. Zélénika, 2017 .

An ontology describing congenital heart defects data

Charalampos N. Moschopoulos, Charalampos Moschopoulos, Jeroen Breckpot, 2013 .

Association Between C677T Polymorphism of Methylene Tetrahydrofolate Reductase and Congenital Heart Disease: Meta-Analysis of 7697 Cases and 13 125 Controls

G. Lathrop, M. Farrall, A. Moorman, 2013, Circulation. Cardiovascular genetics.

Association between C 677 T Polymorphism of Methylene Tetrahydrofolate Reductase and Congenital Heart Disease : Meta-Analysis of 7 , 697 Cases and 13 , 125 Controls Running title : Mamasoula : MTHFR C 677 T polymorphism and congenital heart disease

Faith, G. Lathrop, D. Zélénika, 2013 .

Language Profiles of School-Aged Children with 22q11.2 Copy Number Variants

I. Zink, D. McDonald-McGinn, C. Solot, 2023, Genes.

A clinical scoring system for congenital contractural arachnodactyly

A. Green, Alison M. Male, F. McKenzie, 2019, Genetics in Medicine.

The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects

D. Lambrechts, K. Devriendt, J. Vermeesch, 2015, American journal of medical genetics. Part A.

Tools to differentiate between Filamin C and Titin truncating variant carriers: value of MRI

J. Bogaert, A. Corveleyn, T. Robyns, 2023, European Journal of Human Genetics.

BMPR 1 A is a candidate gene for congenital heart defects associated with the recurrent 10 q 22 q 23 deletion syndrome

Y. Moreau, L. Tranchevent, K. Devriendt, 2012 .

Individualized QT interval (QTi) is a powerful diagnostic tool in long QT syndrome: results from a large validation study

J. Ector, C. Garweg, B. Vandenberk, 2023, Frontiers in Cardiovascular Medicine.

Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt

S. Lynch, A. van Haeringen, J. Breckpot, 2023, American journal of medical genetics. Part A.

Genetic counselling and testing in congenital heart defects and hereditary thoracic aortic disease: Complex but essential

J. Breckpot, 2019, European journal of preventive cardiology.

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

Deanne M. Taylor, E. Zackai, K. Coleman, 2016, Human Genetics.

Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy

K. Devriendt, G. Matthijs, A. Corveleyn, 2017, European Journal of Human Genetics.

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

K. Devriendt, G. Scarano, A. Toutain, 2016, Genetics in Medicine.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

N. Rahman, D. Baralle, C. Mercer, 2018, Wellcome open research.

Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return.

J. Rosenfeld, S. Lalani, U. Kini, 2023, European Journal of Human Genetics.

Cell-free DNA methylome analysis for early preeclampsia prediction

K. Devriendt, J. Vermeesch, W. Gyselaers, 2023, Nature Medicine.

Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease

S. Brunak, S. G. Ellesøe, J. Izarzugaza, 2020, Genome Medicine.

A Case of a Heterozygous Inactivating CASR Variant with Adult-Onset Symptomatic Hypercalcemia Requiring Extensive Surgery

B. Weynand, B. Decallonne, J. Breckpot, 2020, Calcified Tissue International.

DISC1 duplication in two brothers with autism and mild mental retardation

H. Peeters, J. Breckpot, A. Crepel, 2010, Clinical genetics.

Association Between C677T Polymorphism of Methylene Tetrahydrofolate Reductase and Congenital Heart Disease: Meta-Analysis of 7697 Cases and 13 125 Controls

M. Farrall, K. Devriendt, D. Zélénika, 2013, Circulation. Cardiovascular genetics.

Breast milk-associated oxysterol reverses neonatal white matter injury through Gli2-dependent oligodendrogenesis Proceedings of the 13th International Newborn Brain Conference: Fetal and/or neonatal brain development, both normal and abnormal

Laura G. Dubois, G. Taga, S. Gregory, 2022 .

Haploinsufficiency of TAB2 causes congenital heart defects in humans.

Y. Moreau, P. Van Loo, L. Tranchevent, 2010, American journal of human genetics.

Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome

S. Scherer, M. Owen, R. Gur, 2020, Nature Medicine.

Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return

S. Lalani, U. Kini, B. Landis, 2023, European Journal of Human Genetics.

Transethnic genome-wide association study provides insights in the genetic architecture and heritability of long QT syndrome Running title: Genome-wide association study in long QT syndrome

T. Werge, P. Ellinor, S. Priori, 2020 .

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

K. Devriendt, G. Scarano, A. Toutain, 2016, Genetics in Medicine.

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

M. Owen, C. Marshall, Zhengdong D. Zhang, 2023, NPJ genomic medicine.

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

C. Marshall, D. Heine-Suñer, D. Zheng, 2022, bioRxiv.

E. Ashley, A. Bollmann, E. Kaufman, 2022, Journal of arrhythmia.

Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease

S. Brunak, S. G. Ellesøe, J. Izarzugaza, 2020, Genome Medicine.