Alex V. Postma

Biochemistry, Genetics and Molecular Biology · Life Sciences

35h-index4.7kcitations118works1.32yr avg
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Research Topics

Congenital heart defects research(62), Congenital Heart Disease Studies(41), Cardiomyopathy and Myosin Studies(22), Cardiac electrophysiology and arrhythmias(18), Ion channel regulation and function(12)

Publications117 total

DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects
Genome Medicine·2026Open Access
Fatal persistent pulmonary hypertension as part of 3q11.1-q21.3 deletion syndrome?
Medical Reports·2025Open Access
Sinus Bradycardia and Long QT Syndrome: Double Heterozygosity for Variants in KCNH2 and HCN4
Cardiogenetics·2025· 1 citedOpen Access
A novel heterozygous pathogenic variant in HEY2 led to a familial form of non-syndromic Tetralogy of Fallot
European Journal of Human Genetics·2025· 1 citedOpen Access
Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy
The American Journal of Human Genetics·2025· 1 citedOpen Access
A validated heart-specific model for splice-disrupting variants in childhood heart disease
Genome Medicine·2024· 5 citedOpen Access
Editorial commentary: Towards gene based recommendations in cardiomyopathy
Trends in Cardiovascular Medicine·2024Open Access
Biallelic variants in <i>POPDC2</i> cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathy
2024Open Access
Molecular Pathways and Animal Models of Ebstein’s Anomaly
Advances in experimental medicine and biology·2024· 4 citedOpen Access
A validated heart-specific model for splice-disrupting variants in childhood heart disease
2023Open Access
TGFBR1 Variants Can Associate with Non-Syndromic Congenital Heart Disease without Aortopathy
Journal of Cardiovascular Development and Disease·2023· 1 citedOpen Access
Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human
Genome Medicine·2023· 12 citedOpen Access
GMDS Intragenic Deletions Associate with Congenital Heart Disease including Ebstein Anomaly
Cardiogenetics·2023· 5 citedOpen Access
Genetics of sinoatrial node function and heart rate disorders
Disease Models & Mechanisms·2023· 18 citedOpen Access
Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene
Journal of Human Genetics·2023· 12 citedOpen Access
Table of Contents
Genetics in Medicine Open·2023Open Access
Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension
Genetics in Medicine Open·2023· 3 citedOpen Access
GMDS Intragenic Deletions Associate with Congenital Heart Disaese including Ebstein Anomaly
Pure Amsterdam UMC·2023
<i>PRDM10</i>directs<i>FLCN</i>expression in a novel disorder overlapping with Birt–Hogg–Dubé syndrome and familial lipomatosis
Human Molecular Genetics·2022· 18 citedOpen Access
No prominent role for complement C1-esterase inhibitor in Marfan syndrome mice
Vascular Biology·2022· 2 citedOpen Access
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Frequent Co-authors

Barbara J.M. Mulder(14), Connie R. Bezzina(13), Klaartje van Engelen(12), Marcel M. A. M. Mannens(11), Vincent M. Christoffels(11), Arthur A.M. Wilde(10), Bernard Keavney(10), Antoon F.M. Moorman(10), Marieke J.H. Baars(8), Phil Barnett(8), Aho Ilgun(8), Jeroen Breckpot(7), Elisabeth M. Lodder(6), Koenraad Devriendt(6), Marc Gewillig(6), Heather J. Cordell(5), Ana Töpf(5), David S. Winlaw(5), J. David Brook(5), Thahira Rahman(5)