Publications by authors named "Jeroen Breckpot"

63Publications

Centrosome and ciliary abnormalities in fetal akinesia deformation sequence human fibroblasts.

Sci Rep 2020 11 9;10(1):19301. Epub 2020 Nov 9.

Institute of Molecular Biology and Medicine, Université Libre de Bruxelles, 6041, Gosselies, Belgium.

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http://dx.doi.org/10.1038/s41598-020-76192-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7652866PMC
November 2020

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

Authors:
Roddy Walsh Najim Lahrouchi Rafik Tadros Florence Kyndt Charlotte Glinge Pieter G Postema Ahmad S Amin Eline A Nannenberg James S Ware Nicola Whiffin Francesco Mazzarotto Doris Škorić-Milosavljević Christian Krijger Elena Arbelo Dominique Babuty Hector Barajas-Martinez Britt M Beckmann Stéphane Bézieau J Martijn Bos Jeroen Breckpot Oscar Campuzano Silvia Castelletti Candan Celen Sebastian Clauss Anniek Corveleyn Lia Crotti Federica Dagradi Carlo de Asmundis Isabelle Denjoy Sven Dittmann Patrick T Ellinor Cristina Gil Ortuño Carla Giustetto Jean-Baptiste Gourraud Daisuke Hazeki Minoru Horie Taisuke Ishikawa Hideki Itoh Yoshiaki Kaneko Jørgen K Kanters Hiroki Kimoto Maria-Christina Kotta Ingrid P C Krapels Masahiko Kurabayashi Julieta Lazarte Antoine Leenhardt Bart L Loeys Catarina Lundin Takeru Makiyama Jacques Mansourati Raphaël P Martins Andrea Mazzanti Stellan Mörner Carlo Napolitano Kimie Ohkubo Michael Papadakis Boris Rudic Maria Sabater Molina Frédéric Sacher Hatice Sahin Georgia Sarquella-Brugada Regina Sebastiano Sanjay Sharma Mary N Sheppard Keiko Shimamoto M Benjamin Shoemaker Birgit Stallmeyer Johannes Steinfurt Yuji Tanaka David J Tester Keisuke Usuda Paul A van der Zwaag Sonia Van Dooren Lut Van Laer Annika Winbo Bo G Winkel Kenichiro Yamagata Sven Zumhagen Paul G A Volders Steven A Lubitz Charles Antzelevitch Pyotr G Platonov Katja E Odening Dan M Roden Jason D Roberts Jonathan R Skinner Jacob Tfelt-Hansen Maarten P van den Berg Morten S Olesen Pier D Lambiase Martin Borggrefe Kenshi Hayashi Annika Rydberg Tadashi Nakajima Masao Yoshinaga Johan B Saenen Stefan Kääb Pedro Brugada Tomas Robyns Daniela F Giachino Michael J Ackerman Ramon Brugada Josep Brugada Juan R Gimeno Can Hasdemir Pascale Guicheney Silvia G Priori Eric Schulze-Bahr Naomasa Makita Peter J Schwartz Wataru Shimizu Takeshi Aiba Jean-Jacques Schott Richard Redon Seiko Ohno Vincent Probst Elijah R Behr Julien Barc Connie R Bezzina

Genet Med 2020 Sep 7. Epub 2020 Sep 7.

Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.

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http://dx.doi.org/10.1038/s41436-020-00946-5DOI Listing
September 2020

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

Authors:
Najim Lahrouchi Rafik Tadros Lia Crotti Yuka Mizusawa Pieter G Postema Leander Beekman Roddy Walsh Kanae Hasegawa Julien Barc Marko Ernsting Kari L Turkowski Andrea Mazzanti Britt M Beckmann Keiko Shimamoto Ulla-Britt Diamant Yanushi D Wijeyeratne Yu Kucho Tomas Robyns Taisuke Ishikawa Elena Arbelo Michael Christiansen Annika Winbo Reza Jabbari Steven A Lubitz Johannes Steinfurt Boris Rudic Bart Loeys M Ben Shoemaker Peter E Weeke Ryan Pfeiffer Brianna Davies Antoine Andorin Nynke Hofman Federica Dagradi Matteo Pedrazzini David J Tester J Martijn Bos Georgia Sarquella-Brugada Óscar Campuzano Pyotr G Platonov Birgit Stallmeyer Sven Zumhagen Eline A Nannenberg Jan H Veldink Leonard H van den Berg Ammar Al-Chalabi Christopher E Shaw Pamela J Shaw Karen E Morrison Peter M Andersen Martina Müller-Nurasyid Daniele Cusi Cristina Barlassina Pilar Galan Mark Lathrop Markus Munter Thomas Werge Marta Ribasés Tin Aung Chiea C Khor Mineo Ozaki Peter Lichtner Thomas Meitinger J Peter van Tintelen Yvonne Hoedemaekers Isabelle Denjoy Antoine Leenhardt Carlo Napolitano Wataru Shimizu Jean-Jacques Schott Jean-Baptiste Gourraud Takeru Makiyama Seiko Ohno Hideki Itoh Andrew D Krahn Charles Antzelevitch Dan M Roden Johan Saenen Martin Borggrefe Katja E Odening Patrick T Ellinor Jacob Tfelt-Hansen Jonathan R Skinner Maarten P van den Berg Morten Salling Olesen Josep Brugada Ramón Brugada Naomasa Makita Jeroen Breckpot Masao Yoshinaga Elijah R Behr Annika Rydberg Takeshi Aiba Stefan Kääb Silvia G Priori Pascale Guicheney Hanno L Tan Christopher Newton-Cheh Michael J Ackerman Peter J Schwartz Eric Schulze-Bahr Vincent Probst Minoru Horie Arthur A Wilde Michael W T Tanck Connie R Bezzina

Circulation 2020 Jul 20;142(4):324-338. Epub 2020 May 20.

Amsterdam UMC, University of Amsterdam, Heart Center; Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, The Netherlands (N.L., R.T., Y.M., P.G.P., L.B., R.W., N.H., H.L.T., A.A.W., C.R.B.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.120.045956DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7382531PMC
July 2020

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

Calcif Tissue Int 2020 Jul 19;107(1):104-108. Epub 2020 Apr 19.

Department of Endocrinology, University Hospitals Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1007/s00223-020-00693-4DOI Listing
July 2020

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

Eur J Med Genet 2020 May 10;63(5):103875. Epub 2020 Feb 10.

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.ejmg.2020.103875DOI Listing
May 2020

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

Authors:
Isabelle Cleynen Worrawat Engchuan Matthew S Hestand Tracy Heung Aaron M Holleman H Richard Johnston Thomas Monfeuga Donna M McDonald-McGinn Raquel E Gur Bernice E Morrow Ann Swillen Jacob A S Vorstman Carrie E Bearden Eva W C Chow Marianne van den Bree Beverly S Emanuel Joris R Vermeesch Stephen T Warren Michael J Owen Pankaj Chopra David J Cutler Richard Duncan Alex V Kotlar Jennifer G Mulle Anna J Voss Michael E Zwick Alexander Diacou Aaron Golden Tingwei Guo Jhih-Rong Lin Tao Wang Zhengdong Zhang Yingjie Zhao Christian Marshall Daniele Merico Andrea Jin Brenna Lilley Harold I Salmons Oanh Tran Peter Holmans Antonio Pardinas James T R Walters Wolfram Demaerel Erik Boot Nancy J Butcher Gregory A Costain Chelsea Lowther Rens Evers Therese A M J van Amelsvoort Esther van Duin Claudia Vingerhoets Jeroen Breckpot Koen Devriendt Elfi Vergaelen Annick Vogels T Blaine Crowley Daniel E McGinn Edward M Moss Robert J Sharkus Marta Unolt Elaine H Zackai Monica E Calkins Robert S Gallagher Ruben C Gur Sunny X Tang Rosemarie Fritsch Claudia Ornstein Gabriela M Repetto Elemi Breetvelt Sasja N Duijff Ania Fiksinski Hayley Moss Maria Niarchou Kieran C Murphy Sarah E Prasad Eileen M Daly Maria Gudbrandsen Clodagh M Murphy Declan G Murphy Antonio Buzzanca Fabio Di Fabio Maria C Digilio Maria Pontillo Bruno Marino Stefano Vicari Karlene Coleman Joseph F Cubells Opal Y Ousley Miri Carmel Doron Gothelf Ehud Mekori-Domachevsky Elena Michaelovsky Ronnie Weinberger Abraham Weizman Leila Kushan Maria Jalbrzikowski Marco Armando Stéphan Eliez Corrado Sandini Maude Schneider Frédérique Sloan Béna Kevin M Antshel Wanda Fremont Wendy R Kates Raoul Belzeaux Tiffany Busa Nicole Philip Linda E Campbell Kathryn L McCabe Stephen R Hooper Kelly Schoch Vandana Shashi Tony J Simon Flora Tassone Celso Arango David Fraguas Sixto García-Miñaúr Jaume Morey-Canyelles Jordi Rosell Damià H Suñer Jasna Raventos-Simic Michael P Epstein Nigel M Williams Anne S Bassett

Mol Psychiatry 2020 Feb 3. Epub 2020 Feb 3.

Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada.

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http://dx.doi.org/10.1038/s41380-020-0654-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7396297PMC
February 2020

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

BMC Med Genomics 2019 11 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

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

Eur J Med Genet 2020 Mar 9;63(3):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
March 2020

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

Authors:
Jeroen Breckpot

Eur J Prev Cardiol 2019 10 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

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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7313243PMC
September 2018

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

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
Publisher Site
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