Publications by authors named "Alex V Postma"

51Publications

Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency.

Am J Med Genet A 2020 08 28;182(8):1952-1956. Epub 2020 May 28.

Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

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August 2020

DNA methylation abundantly associates with fetal alcohol spectrum disorder and its subphenotypes.

Epigenomics 2019 05 15;11(7):767-785. Epub 2019 Mar 15.

Department of Anatomy, Embryology & Physiology, Amsterdam University Medical Centers, Location AMC, Amsterdam, The Netherlands.

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May 2019

Identifying pathogenic variants in the Follistatin-like 1 gene (FSTL1) in patients with skeletal and atrioventricular valve disorders.

Mol Genet Genomic Med 2019 04 5;7(4):e00567. Epub 2019 Feb 5.

Department of Medical Biology, Amsterdam UMC, location AMC, Amsterdam, The Netherlands.

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April 2019

Editorial commentary: Another notch for bicuspid aortic valve aortopathy?

Trends Cardiovasc Med 2019 02 5;29(2):69-70. Epub 2018 Jul 5.

Department of Medical Biology, Amsterdam Cardiovascular Sciences, Amsterdam UMC, Academic Medical Center, the Netherlands; Department of Clinical Genetics, Amsterdam Cardiovascular Sciences, Amsterdam UMC, Academic Medical Center, the Netherlands. Electronic address:

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February 2019

Specialized impulse conduction pathway in the alligator heart.

Elife 2018 03 22;7. Epub 2018 Mar 22.

Department of Medical Biology, Heart Failure Research Center, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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March 2018

Familial co-occurrence of congenital heart defects follows distinct patterns.

Eur Heart J 2018 03;39(12):1015-1022

Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, DK-2200 Copenhagen, Denmark.

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March 2018

Editorial Commentary: Keeping the congenitally malformed heart in shape.

Trends Cardiovasc Med 2017 11 10;27(8):532-533. Epub 2017 Jul 10.

Department of Medical Biology, Academic Medical Center, Amsterdam, The Netherlands; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands. Electronic address:

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November 2017

Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death.

Eur J Hum Genet 2017 06 15;25(6):783-787. Epub 2017 Mar 15.

Department of Clinical and Experimental Cardiology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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June 2017

Editorial Commentary: Looking beyond the heart in adult congenital heart disease.

Trends Cardiovasc Med 2016 10 11;26(7):637-8. Epub 2016 May 11.

Department of Anatomy, Embryology, & Physiology, Academic Medical Center, Amsterdam, The Netherlands; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands. Electronic address:

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October 2016

Genetics of congenital heart disease: the contribution of the noncoding regulatory genome.

J Hum Genet 2016 Jan 30;61(1):13-9. Epub 2015 Jul 30.

Department of Anatomy, Embryology & Physiology, Academic Medical Center, Amsterdam, The Netherlands.

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January 2016

Genetics of congenital heart disease: Beyond half-measures.

Trends Cardiovasc Med 2015 May 4;25(4):302-4. Epub 2014 Dec 4.

Department of Anatomy, Embryology & Physiology, Academic Medical Center, Amsterdam, The Netherlands; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands. Electronic address:

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May 2015

A mutation in the Kozak sequence of GATA4 hampers translation in a family with atrial septal defects.

Am J Med Genet A 2014 Nov 5;164A(11):2732-8. Epub 2014 Aug 5.

Department of Anatomy, Embryology & Physiology, Academic Medical Center, Amsterdam, the Netherlands.

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November 2014

Identifying the evolutionary building blocks of the cardiac conduction system.

PLoS One 2012 11;7(9):e44231. Epub 2012 Sep 11.

Department of Anatomy, Embryology & Physiology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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March 2013

Developmental aspects of cardiac arrhythmogenesis.

Cardiovasc Res 2011 Jul 12;91(2):243-51. Epub 2011 May 12.

Heart Failure Research Center, Academic Medical Center, Amsterdam, The Netherlands.

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July 2011

Mutations in the sarcomere gene MYH7 in Ebstein anomaly.

Circ Cardiovasc Genet 2011 Feb 2;4(1):43-50. Epub 2010 Dec 2.

Heart Failure Research Center, the Department of Anatomy, Embryology and Physiology, Academic Medical Center, Amsterdam, The Netherlands.

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February 2011

Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome.

Cardiovasc Res 2010 Oct 2;88(1):130-9. Epub 2010 Jun 2.

Heart Failure Research Center, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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October 2010

The human CASQ2 mutation K206N is associated with hyperglycosylation and altered cellular calcium handling.

J Mol Cell Cardiol 2010 Jul 17;49(1):95-105. Epub 2010 Mar 17.

Institut für Pharmakologie und Toxikologie, Universitätsklinikum Münster, Domagkstr. 12, 48149 Münster, Germany.

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July 2010

Developmental and genetic aspects of atrial fibrillation.

Trends Cardiovasc Med 2009 May;19(4):123-30

Heart Failure Research Center, Academic Medical Center, University of Amsterdam, The Netherlands.

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May 2009

A case of catecholaminergic polymorphic ventricular tachycardia caused by two calsequestrin 2 mutations.

Pacing Clin Electrophysiol 2008 Jul;31(7):916-9

Department of Cardiology, Catharina Hospital Eindhoven, Eindhoven, the Netherlands.

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July 2008

A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22.

J Cardiovasc Electrophysiol 2007 Sep 30;18(10):1060-6. Epub 2007 Jul 30.

Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

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September 2007

Molecular diagnostics of catecholaminergic polymorphic ventricular tachycardia using denaturing high-performance liquid chromatography and sequencing.

Methods Mol Med 2006 ;126:171-83

Experimental and Molecular Cardiology Group, Academic Medical Center, Amsterdam, The Netherlands.

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December 2006

Candidate genes for the hereditary component of cardiac hypertrophy.

J Hypertens 2006 Feb;24(2):273-7

Department of Anatomy and Embryology, Experimental and Molecular Cardiology Group, Amsterdam, The Netherlands.

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February 2006

Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia.

Circ Res 2002 Oct;91(8):e21-6

INSERM U523, Institut de Myologie, IFR Coeur, muscles et vaisseaux No. 14, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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October 2002