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J. Breckpot · SciRah

Researcher profile · Semantic Scholar

J. Breckpot

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J. Breckpot — researcher profile on SciRah

h-index: 38
Works: 171
Citations: 4,635

Most-cited papers

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
A. Sifrim, M. Hitz, A. Wilsdon, J. Breckpot +68 more
2016Nature Genetics420 citations Open access
Semantic Scholar
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
A. Wilde, C. Semsarian, M. Márquez, Alireza Sepehri Shamloo +44 more
2022Journal of Arrhythmia275 citations Open access
Semantic Scholar
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.
A. Wilde, C. Semsarian, M. Márquez, A. S. Shamloo +23 more
2022Heart Rhythm165 citations Open access
Semantic Scholar
Whole Exome Sequencing Reveals the Major Genetic Contributors to Non-Syndromic Tetralogy of Fallot
D. Page, Matthieu J. Miossec, S. Williams, Richard M. Monaghan +30 more
2019Circulation Research144 citations Open access
Semantic Scholar
Genome-wide association analyses identify novel Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
J. Barc, R. Tadros, C. Glinge, David Y. Chiang +152 more
2022Nature Genetics114 citations Open access
Semantic Scholar
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion
I. Cleynen, W. Engchuan, M. Hestand, Tracy Heung +120 more
2020Molecular Psychiatry113 citations Open access
Semantic Scholar
Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome
N. Lahrouchi, R. Tadros, L. Crotti, Y. Mizusawa +102 more
2020Circulation105 citations Open access
Semantic Scholar
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants
K. Tatton-Brown, Anna Zachariou, C. Loveday, A. Renwick +45 more
2018Wellcome Open Research99 citations Open access
Semantic Scholar
Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care
Ivan Ivanovski, O. Djuric, S. Caraffi, Daniela Santodirocco +76 more
2018Genetics in Medicine88 citations Open access
Semantic Scholar
Cell-free DNA methylome analysis for early preeclampsia prediction
Marie De Borre, Hui-Wen Che, Qian Yu, L. Lannoo +13 more
2023Nature Medicine82 citations Open access
Semantic Scholar
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls
R. Walsh, N. Lahrouchi, R. Tadros, F. Kyndt +126 more
2020Genetics in Medicine82 citations Open access
Semantic Scholar
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.
Yingjie Zhao, Alexander Diacou, H. R. Johnston, Fadi I Musfee +47 more
2019American Journal of Human Genetics59 citations Open access
Semantic Scholar
Neuroimaging Findings in Mowat-Wilson Syndrome: A Study of 54 Patients
L. Garavelli, Ivan Ivanovski, S. Caraffi, Daniela Santodirocco +54 more
2016Genetics in Medicine55 citations Open access
Semantic Scholar
Isolated sulfite oxidase deficiency
H. Claerhout, P. Witters, L. Régal, K. Jansen +3 more
2018Journal of Inherited Metabolic Disease50 citations
Semantic Scholar
Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome
E. Mlynarski, M. Xie, Deanne M. Taylor, Molly B. Sheridan +27 more
2016Human Genetics47 citations Open access
Semantic Scholar
Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge
L. Lannoo, K. van Straaten, J. Breckpot, N. Brison +12 more
2022European Journal of Human Genetics42 citations Open access
Semantic Scholar
Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects
Yingjie Zhao, Ting-Wei Guo, A. Fiksinski, E. Breetvelt +40 more
2018American Journal of Medical Genetics. Part A40 citations Open access
Semantic Scholar
Phenotypic spectrum of Au–Kline syndrome: a report of six new cases and review of the literature
P. Y. Billie Au, Caitlin Goedhart, Marcia Ferguson, J. Breckpot +13 more
2018European Journal of Human Genetics39 citations Open access
Semantic Scholar
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability
Rosalind Verheije, G. Kupchik, B. Isidor, H. Kroes +41 more
2018European Journal of Human Genetics38 citations Open access
Semantic Scholar
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy
R. Lesurf, Abdelrahman Said, O. Akinrinade, J. Breckpot +113 more
2022npj Genomic Medicine35 citations Open access
Semantic Scholar
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
S. Choufani, Vanda McNiven, C. Cytrynbaum, M. Jangjoo +58 more
2022American Journal of Human Genetics30 citations Open access
Semantic Scholar
Return of genetic and genomic research findings: experience of a pediatric biorepository
T. Papaz, E. Liston, L. Zahavich, D. Stavropoulos +14 more
2019BMC Medical Genomics30 citations Open access
Semantic Scholar
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease
E. Audain, A. Wilsdon, J. Breckpot, Jmg Izarzugaza +47 more
2020bioRxiv29 citations Open access
Semantic Scholar
Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions
N. Blagowidow, B. Nowakowska, Erica M. Schindewolf, F. Grati +15 more
2023Genes28 citations Open access
Semantic Scholar
Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2
Ting-Wei Guo, Alexander Diacou, H. Nomaru, D. McDonald-McGinn +27 more
2018Human Molecular Genetics28 citations Open access
Semantic Scholar
Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders
Mathilde Geysens, Benjamin Huremagic, E. Souche, J. Breckpot +6 more
2025Genome Medicine27 citations Open access
Semantic Scholar
Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries
Doris Škorić-Milosavljević, R. Tadros, F. Bosada, F. Tessadori +76 more
2021Circulation Research25 citations Open access
Semantic Scholar
A clinical scoring system for congenital contractural arachnodactyly
Ilse Meerschaut, Shana De Coninck, W. Steyaert, A. Barnicoat +39 more
2019Genetics in Medicine25 citations Open access
Semantic Scholar
Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings
J. Louw, R. Nunes-Bastos, Xiaowen Chen, C. Verdood +8 more
2018PLoS Genetics23 citations Open access
Semantic Scholar
The clinical relevance of intragenic NRXN1 deletions
Nele Cosemans, Laura Vandenhove, A. Vogels, K. Devriendt +13 more
2020Journal of Medical Genetics20 citations
Semantic Scholar
Individualized corrected QT interval is superior to QT interval corrected using the Bazett formula in predicting mutation carriage in families with long QT syndrome.
T. Robyns, R. Willems, B. Vandenberk, J. Ector +7 more
2017Heart Rhythm20 citations
Semantic Scholar
Next-generation sequencing in prenatal setting: Some examples of unexpected variant association.
Berardo Rinaldi, V. Race, A. Corveleyn, E. Van Hoof +11 more
2020European Journal of Medical Genetics19 citations
Semantic Scholar
Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease
J. M. Izarzugaza, S. G. Ellesøe, C. Doganli, N. Ehlers +20 more
2020Genome Medicine19 citations Open access
Semantic Scholar
Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence.
Loretta I. Winters, E. Van Hoof, L. de Catte, K. Van Den Bogaert +4 more
2017European journal of paediatric neurology19 citations
Semantic Scholar
ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy.
Kari A. Mattison, Gilles Tossing, Fred Mulroe, Callum Simmons +40 more
2022Brain : a journal of neurology17 citations Open access
Semantic Scholar
Clinical and ECG variables to predict the outcome of genetic testing in hypertrophic cardiomyopathy.
T. Robyns, J. Breckpot, D. Nuyens, B. Vandenberk +5 more
2020European Journal of Medical Genetics17 citations Open access
Semantic Scholar
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?
Diego Lopergolo, Flavia Privitera, G. Castello, Caterina Lo Rizzo +23 more
2020Clinical Genetics15 citations Open access
Semantic Scholar
Expanding the phenotype of metabolic cutis laxa with an additional disorder of N-linked protein glycosylation
P. Witters, J. Breckpot, F. Foulquier, G. Preston +2 more
2017European Journal of Human Genetics15 citations Open access
Semantic Scholar
Tools to differentiate between Filamin C and Titin truncating variant carriers: value of MRI
J. Jacobs, L. Van Aelst, J. Breckpot, A. Corveleyn +8 more
2023European Journal of Human Genetics14 citations Open access
Semantic Scholar
Language Profiles of School-Aged Children with 22q11.2 Copy Number Variants
J. Verbesselt, C. Solot, E. G. van den Heuvel, T. Crowley +5 more
2023Genes13 citations Open access
Semantic Scholar
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age
L. Freud, Stephanie N. Galloway, T. Crowley, J. Moldenhauer +58 more
2023American Journal of Obstetrics and Gynecology13 citations Open access
Semantic Scholar
Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot
Doris Škorić-Milosavljević, N. Lahrouchi, F. Bosada, G. Dombrowsky +51 more
2021Genetics in Medicine13 citations Open access
Semantic Scholar
Cross-sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study
J. Verbesselt, I. Zink, J. Breckpot, A. Swillen
2021American Journal of Medical Genetics. Part A13 citations Open access
Semantic Scholar
Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy
T. Robyns, Cuno Kuiperi, J. Breckpot, K. Devriendt +6 more
2017European Journal of Human Genetics13 citations Open access
Semantic Scholar
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS
Yingjie Zhao, Yu-Jue Wang, Lijie Shi, D. McDonald-McGinn +48 more
2023npj Genomic Medicine11 citations Open access
Semantic Scholar
Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins.
Lisanne Vervoort, Wolfram Demaerel, L. Y. Rengifo, Adrian Odrzywolski +15 more
2019Human Molecular Genetics9 citations Open access
Semantic Scholar
Genotype–phenotype relationship and risk stratification in loss‐of‐function SCN5A mutation carriers
T. Robyns, D. Nuyens, B. Vandenberk, Cuno Kuiperi +5 more
2018Annals of Noninvasive Electrocardiology8 citations Open access
Semantic Scholar
Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return
E. Huth, Xiao-Nan Zhao, N. Owen, Pamela N. Luna +28 more
2023European Journal of Human Genetics7 citations Open access
Semantic Scholar
Parent-Reported Social-Communicative Skills of Children with 22q11.2 Copy Number Variants and Siblings
J. Verbesselt, E. G. van den Heuvel, J. Breckpot, I. Zink +1 more
2022Genes7 citations Open access
Semantic Scholar
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls
R. Walsh, N. Lahrouchi, R. Tadros, F. Kyndt +127 more
2020Genetics in Medicine7 citations Open access
Semantic Scholar

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