Publications by authors named "Paul A van der Zwaag"

37Publications

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

Coexistence of wild type and hereditary ATTR amyloidosis in one family.

Amyloid 2020 Mar 13;27(1):71-72. Epub 2019 Nov 13.

Rheumatology & Clinical Immunology, Amyloidosis Center of Expertise, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1080/13506129.2019.1690444DOI Listing
March 2020

Dyssynchronopathy Can be a Manifestation of Heritable Cardiomyopathy.

Circ Genom Precis Med 2019 05;12(5):e002528

Department of Cardiology (K.D., R.A.d.B., A.H.M., M.P.v.d.B.), University of Groningen, University Medical Center Groningen, the Netherlands.

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http://dx.doi.org/10.1161/CIRCGEN.119.002528DOI Listing
May 2019

Distinct molecular signature of phospholamban p.Arg14del arrhythmogenic cardiomyopathy.

Cardiovasc Pathol 2019 May - Jun;40:2-6. Epub 2018 Dec 21.

University of Groningen, University Medical Center Groningen, Department of Pathology, Groningen, The Netherlands.

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http://dx.doi.org/10.1016/j.carpath.2018.12.006DOI Listing
July 2019

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Am J Hum Genet 2018 05 12;102(5):995-1007. Epub 2018 Apr 12.

Centre de Génétique Médicale, Centre de Référence "Déficiences Intellectuelles de causes rares," CHU de Dijon Bourgogne, 21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986694PMC
May 2018

Mutations in Causing a Novel Orthostatic Hypotension Syndrome.

Circ Res 2018 03 17;122(6):846-854. Epub 2018 Jan 17.

From the Department of Cardiology (M.P.v.d.B., P.v.d.H., H.H.W.S., I.M.L.), Laboratory Medicine (M.v.F., I.P.K.), Department of Nephrology (G.N.), Department of Neurology (G.J.L.), and Department of Genetics (P.A.v.d.Z., J.D.H.J.), University Medical Center Groningen, University of Groningen, The Netherlands; Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, Jordan University of Science and Technology, Irbid (R.A.); Division of Clinical Pharmacology, Vanderbilt University, Medical Center, Nashville, TN (I.B.); Department of Internal Medicine, Medical Center Leeuwarden, The Netherlands (M.H.H.); Department of Genetics (A.P.M.d.B.), Centre for Molecular and Biomolecular Informatics (H.V.), and Translational Metabolic Laboratory, Department of Laboratory Medicine (M.M.V., R.A.W.), Radboud University Medical Center Nijmegen, The Netherlands; and Department of Genetics, Academic Medical Center, University of Amsterdam, The Netherlands (J.P.v.T.).

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https://www.ahajournals.org/doi/10.1161/CIRCRESAHA.117.31194
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http://dx.doi.org/10.1161/CIRCRESAHA.117.311949DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5924476PMC
March 2018

The ARVD/C genetic variants database: 2014 update.

Hum Mutat 2015 Apr 19;36(4):403-10. Epub 2015 Mar 19.

Department of Cardiac, Thoracic and Vascular Sciences, University of Padua, Padua, Italy; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1002/humu.22765DOI Listing
April 2015

Outcome in phospholamban R14del carriers: results of a large multicentre cohort study.

Circ Cardiovasc Genet 2014 Aug 8;7(4):455-65. Epub 2014 Jun 8.

Departments of Cardiology (I.A.W.v.R., Y.M.P., H.L.T., A.A.M.W.), Genetics (E.A.N., R.H.L.d.D., I.C.), and Epidemiology (A.H.Z.), Academic Medical Center, Amsterdam, The Netherlands; Departments of Genetics (P.A.v.d.Z., J.D.H.J., J.P.v.T.) and Cardiology (R.A.d.B., M.P.v.d.B.), University of Groningen, University Medical Center Groningen, Groningen, The Netherlands; Interuniversity Cardiology Institute of the Netherlands, Utrecht, The Netherlands (J.A.G., Y.M.P., R.N.W.H., A.A.M.W.); Departments of Cardiology (J.A.G., R.N.W.H.) and Genetics (J.G.P.), University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1161/CIRCGENETICS.113.000374DOI Listing
August 2014

Left-dominant arrhythmogenic cardiomyopathy in a large family: associated desmosomal or nondesmosomal genotype?

Heart Rhythm 2013 Apr 25;10(4):548-59. Epub 2012 Dec 25.

Department of Cardiology, University Medical Center Utrecht and Interuniversity Cardiology Institute of the Netherlands, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.hrthm.2012.12.020DOI Listing
April 2013

Counsel the genotype, treat the phenotype.

Eur J Heart Fail 2011 Nov 29;13(11):1159-60. Epub 2011 Sep 29.

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http://dx.doi.org/10.1093/eurjhf/hfr131DOI Listing
November 2011

An interstitial duplication of chromosome 13q31.3q32.1 further delineates the critical region for postaxial polydactyly type A2.

Eur J Med Genet 2010 Jan-Feb;53(1):45-9. Epub 2009 Nov 23.

Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2009.11.003DOI Listing
April 2010

A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Hum Mutat 2009 Sep;30(9):1278-83

Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1002/humu.21064DOI Listing
September 2009