Paul A Zwaag

Paul A Zwaag

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Paul A Zwaag

Paul A Zwaag

Publications by authors named "Paul A Zwaag"

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Dyssynchronopathy Can be a Manifestation of Heritable Cardiomyopathy.

Circ Genom Precis Med 2019 May;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
December 2018

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 Mar 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