Jeroen Breckpot

Jeroen Breckpot

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Jeroen Breckpot

Jeroen Breckpot

Publications by authors named "Jeroen Breckpot"

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53Publications

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

BMC Med Genomics 2019 Nov 27;12(1):173. Epub 2019 Nov 27.

Division of Cardiology, Labatt Family Heart Centre, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, ON, M5G 1X8, Canada.

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http://dx.doi.org/10.1186/s12920-019-0618-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6882371PMC
November 2019

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

Authors:
Jeroen Breckpot

Eur J Prev Cardiol 2019 Oct 26;26(15):1670-1672. Epub 2019 Jun 26.

Center for Human Genetics, Catholic University Leuven, Belgium.

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http://dx.doi.org/10.1177/2047487319860296DOI Listing
October 2019

Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in .

Acta Cardiol 2019 Oct 4:1-6. Epub 2019 Oct 4.

Department of Molecular and Human Genetics, Baylor College of Medicine , Houston , TX , USA.

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http://dx.doi.org/10.1080/00015385.2019.1674490DOI Listing
October 2019

Clinical and ECG variables to predict the outcome of genetic testing in hypertrophic cardiomyopathy.

Eur J Med Genet 2019 Sep 9:103754. Epub 2019 Sep 9.

Department of Cardiovascular Diseases, University Hospitals Leuven, Belgium; Department of Cardiovascular Sciences, University of Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2019.103754DOI Listing
September 2019

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Genet Med 2018 09 4;20(9):965-975. Epub 2018 Jan 4.

Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.

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http://www.nature.com/articles/gim2017221
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http://dx.doi.org/10.1038/gim.2017.221DOI Listing
September 2018

Genotype-phenotype relationship and risk stratification in loss-of-function SCN5A mutation carriers.

Ann Noninvasive Electrocardiol 2018 09 30;23(5):e12548. Epub 2018 Apr 30.

Department of Cardiovascular Diseases, University Hospitals Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1111/anec.12548DOI Listing
September 2018

Expanding the phenotype of metabolic cutis laxa with an additional disorder of N-linked protein glycosylation.

Eur J Hum Genet 2018 05 30;26(5):618-621. Epub 2017 Nov 30.

Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, Leuven, B-3000, Belgium.

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http://dx.doi.org/10.1038/s41431-017-0044-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5945621PMC
May 2018

Isolated sulfite oxidase deficiency.

J Inherit Metab Dis 2018 01 4;41(1):101-108. Epub 2017 Oct 4.

Clinical Department of Laboratory Medicine, University Hospitals Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1007/s10545-017-0089-4DOI Listing
January 2018

Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence.

Eur J Paediatr Neurol 2017 Sep 26;21(5):745-753. Epub 2017 Apr 26.

Center for Human Genetics, University Hospitals Leuven, Catholic University Leuven, Leuven, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2017.04.641DOI Listing
September 2017

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

Heart Rhythm 2017 03;14(3):376-382

Department of Cardiovascular Diseases, University Hospitals Leuven, Leuven, Belgium; Department of Cardiovascular Sciences, University of Leuven, Leuven, Belgium; Department of Cardiology, Ziekenhuis Oost Limburg Genk, Genk, Belgium.

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http://dx.doi.org/10.1016/j.hrthm.2016.11.034DOI Listing
March 2017

Severe biventricular hypertrophy in MELAS mitochondrial disease.

Eur Heart J Cardiovasc Imaging 2017 Jan 1;18(1):112. Epub 2016 Sep 1.

Department of Cardiology, Algemeen Stedelijk Ziekenhuis, Aalst, Belgium

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https://academic.oup.com/ehjcimaging/article-lookup/doi/10.1
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http://dx.doi.org/10.1093/ehjci/jew184DOI Listing
January 2017

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

Nat Genet 2016 09 1;48(9):1060-5. Epub 2016 Aug 1.

Wellcome Trust Sanger Institute, Cambridge, UK.

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http://dx.doi.org/10.1038/ng.3627DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5988037PMC
September 2016

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

Am J Med Genet A 2012 Mar 8;158A(3):574-80. Epub 2012 Feb 8.

Center for Human Genetics, University Hospitals Leuven, Herestraat, Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.35217DOI Listing
March 2012

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

Eur J Med Genet 2010 Nov-Dec;53(6):408-10. Epub 2010 Sep 20.

Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2010.08.004DOI Listing
June 2011

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

Clin Dysmorphol 2010 Apr;19(2):95-7

Center for Human Genetics, University Hospitals Leuven, Belgium.

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http://dx.doi.org/10.1097/MCD.0b013e328337589bDOI Listing
April 2010

A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay.

Eur J Hum Genet 2008 Sep 9;16(9):1050-4. Epub 2008 Apr 9.

Center for Human Genetics, University Hospital Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1038/ejhg.2008.58DOI Listing
September 2008

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

Eur J Med Genet 2008 May-Jun;51(3):219-25. Epub 2008 Jan 9.

Center for Human Genetics, Catholic University of Leuven, Herestraat 49, B-3000 Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2007.12.009DOI Listing
August 2008

A microduplication of CBP in a patient with mental retardation and a congenital heart defect.

Am J Med Genet A 2007 Sep;143A(18):2160-4

Center for Human Genetics, University Hospital Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.31893DOI Listing
September 2007