List of works - Alex V Postma

22q11.2 Deletion Syndrome is under-recognised in adult patients with tetralogy of Fallot and pulmonary atresia.

scientific article published in April 2010

A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function

scientific journal article

A complex double deletion in LMNA underlies progressive cardiac conduction disease, atrial arrhythmias, and sudden death.

scientific article

A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation

scientific article published on 01 May 2008

A mutation in the Kozak sequence ofGATA4hampers translation in a family with atrial septal defects

scientific article published on 05 August 2014

A novel alpha-tropomyosin mutation associates with dilated and non-compaction cardiomyopathy and diminishes actin binding

scientific article published on 09 November 2012

A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q ⬇️

scientific article published on March 9, 2011

A single Na(+) channel mutation causing both long-QT and Brugada syndromes

scientific article (publication date: December 1999)

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

scientific article published on 01 October 2002

Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls

scientific article published on 22 July 2013

Bicuspid Aortic Valve Morphology and Associated Cardiovascular Abnormalities in Fetal Turner Syndrome: A Pathomorphological Study

article

Candidate genes for the hereditary component of cardiac hypertrophy.

scientific article

Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients.

scientific article published in November 2005

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

scientific article published on 10 December 2021

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

scientific article published on 15 March 2019

Decreased inward rectification of Kir2.1 channels is a novel mechanism underlying the short QT syndrome

scientific article published on 05 February 2012

Developmental and genetic aspects of atrial fibrillation.

scientific article published on May 2009

Developmental aspects of cardiac arrhythmogenesis ⬇️

scientific article published on May 12, 2011

Ebstein anomaly associated with left ventricular noncompaction: an autosomal dominant condition that can be caused by mutations in MYH7.

scientific article published on 21 June 2013

Editorial Commentary: Keeping the congenitally malformed heart in shape

scientific article published on 10 July 2017

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

scientific article published on 11 May 2016

Editorial commentary: Another notch for bicuspid aortic valve aortopathy?

scientific article published on 05 July 2018

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

scientific article published on 15 March 2017

Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features

scientific article

Familial co-occurrence of congenital heart defects follows distinct patterns

scientific article published in March 2018

Flotillins in the intercalated disc are potential modulators of cardiac excitability

scientific article published on 17 November 2018

GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum

scientific article published on 12 July 2019

Genetics of congenital heart disease: Beyond half-measures

scientific article published on 04 December 2014

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

scientific article published on 30 July 2015

Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot

scientific journal article

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.

scientific article published on 26 May 2013

HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy

scientific article published in August 2014

Haploinsufficiency of TAB2 causes congenital heart defects in humans

scientific article

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

scientific article published on 12 March 2019

Identification ofTBX5mutations in a series of 94 patients with Tetralogy of Fallot

scientific article published on 26 September 2014

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

article

Identifying the evolutionary building blocks of the cardiac conduction system.

scientific article

Loss-of-function variants in myocardin cause congenital megabladder in humans and mice

scientific article published on 01 December 2019

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

scientific article published on 01 January 2006

Mutations in the Sarcomere Gene MYH7 in Ebstein Anomaly

article

Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal

scientific article

Prevalence of congenital heart defects in neuroblastoma patients: a cohort study and systematic review of literature.

scientific article published on 17 December 2008

Specialized impulse conduction pathway in the alligator heart.

scientific article published on 22 March 2018

The ambiguous role of NKX2-5 mutations in thyroid dysgenesis.

scientific article

The value of the clinical geneticist caring for adults with congenital heart disease: diagnostic yield and patients' perspective

scientific article published on 21 May 2013

Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy

scientific article

Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot

scientific article published on 01 February 2019

Whole-Exome Sequencing Identifies Pathogenic Variants in TJP1 Gene Associated With Arrhythmogenic Cardiomyopathy

article

List of works by Alex V Postma

22q11.2 Deletion Syndrome is under-recognised in adult patients with tetralogy of Fallot and pulmonary atresia.

A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function

A complex double deletion in LMNA underlies progressive cardiac conduction disease, atrial arrhythmias, and sudden death.

A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation

A mutation in the Kozak sequence ofGATA4hampers translation in a family with atrial septal defects

A novel alpha-tropomyosin mutation associates with dilated and non-compaction cardiomyopathy and diminishes actin binding

A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q ⬇️

A single Na(+) channel mutation causing both long-QT and Brugada syndromes

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

Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls

Bicuspid Aortic Valve Morphology and Associated Cardiovascular Abnormalities in Fetal Turner Syndrome: A Pathomorphological Study

Candidate genes for the hereditary component of cardiac hypertrophy.

Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients.

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

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

Decreased inward rectification of Kir2.1 channels is a novel mechanism underlying the short QT syndrome

Developmental and genetic aspects of atrial fibrillation.

Developmental aspects of cardiac arrhythmogenesis ⬇️

Ebstein anomaly associated with left ventricular noncompaction: an autosomal dominant condition that can be caused by mutations in MYH7.

Editorial Commentary: Keeping the congenitally malformed heart in shape

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

Editorial commentary: Another notch for bicuspid aortic valve aortopathy?

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

Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features

Familial co-occurrence of congenital heart defects follows distinct patterns

Flotillins in the intercalated disc are potential modulators of cardiac excitability

GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum

Genetics of congenital heart disease: Beyond half-measures

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

Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.

HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy

Haploinsufficiency of TAB2 causes congenital heart defects in humans

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

Identification ofTBX5mutations in a series of 94 patients with Tetralogy of Fallot

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

Identifying the evolutionary building blocks of the cardiac conduction system.

Loss-of-function variants in myocardin cause congenital megabladder in humans and mice

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

Mutations in the Sarcomere Gene MYH7 in Ebstein Anomaly

Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal

Prevalence of congenital heart defects in neuroblastoma patients: a cohort study and systematic review of literature.

Specialized impulse conduction pathway in the alligator heart.

The ambiguous role of NKX2-5 mutations in thyroid dysgenesis.

The value of the clinical geneticist caring for adults with congenital heart disease: diagnostic yield and patients' perspective

Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy

Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot

Whole-Exome Sequencing Identifies Pathogenic Variants in TJP1 Gene Associated With Arrhythmogenic Cardiomyopathy