A. Postma

发表

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

A. Wilde, M. P. van den Berg, C. Bezzina, 1999, Circulation research.

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

B. Mulder, R. Versteeg, H. Caron, 2008, European Journal of Pediatrics.

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

B. Mulder, A. Postma, M. V. D. van den Hoff, 2019, Molecular genetics & genomic medicine.

Specialized impulse conduction pathway in the alligator heart

I. Efimov, R. Elsey, K. van Duijvenboden, 2018, eLife.

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

B. Bouma, A. Postma, 2016, Trends in cardiovascular medicine.

Developmental aspects of cardiac arrhythmogenesis.

C. Bezzina, V. Christoffels, A. Postma, 2011, Cardiovascular research.

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

Silvio C. E. Tosatto, D. Corrado, D. Husser, 2018, Circulation. Genomic and precision medicine.

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

E. Smets, B. Mulder, A. Postma, 2013, American journal of medical genetics. Part A.

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

A. Moorman, B. Mulder, B. Keavney, 2010, Heart.

tetralogy of Fallot and pulmonary atresia under-recognised in adult patients with 22 q 11 . 2 Deletion Syndrome is

A. Moorman, B. Mulder, B. Keavney, 2022 .

Editorial Commentary: Keeping the congenitally malformed heart in shape.

A. Postma, T. Krasemann, G. van den Berg, 2017, Trends in cardiovascular medicine.

Developmental Aspects of the Electrophysiology of the Heart: Function Follows Form

A. Moorman, V. Christoffels, A. Postma, 2008 .

Ebstein ’ s anomaly may be caused by mutations in the sarcomere protein gene MYH 7

A. Moorman, B. Mulder, B. Keavney, 2013 .

Ebstein’s anomaly may be caused by mutations in the sarcomere protein gene MYH7

A. Moorman, B. Mulder, B. Keavney, 2011, Netherlands Heart Journal.

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

B. Mulder, B. Keavney, A. Postma, 2013, American journal of medical genetics. Part C, Seminars in medical genetics.

Candidate genes for the hereditary component of cardiac hypertrophy.

A. Postma, M. Michel, M. V. D. van den Hoff, 2006, Journal of hypertension.

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

A. Postma, S. Casini, 2012, Cardiovascular research.

Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms

Masa Umicevic Mirkov, M. Hurles, R. Zwart, 2020, Genetics in Medicine.

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

A. Wilde, P. Guicheney, M. Alders, 2005, Journal of Medical Genetics.

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

A. Moorman, A. Wilde, B. Mulder, 2011, European Journal of Human Genetics.

TO JMG Catecholaminergic polymorphic ventricular tachycardia : RYR 2 mutations , bradycardia , and follow up of the patients

P. Guicheney, M. Alders, I. Denjoy, 2005 .

Abstract 1772: 22q11 Deletions in Adults With Tetralogy of Fallot Are Highly Under Recognized

A. Moorman, B. Mulder, B. Keavney, 2009 .

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.

P. de Knijff, B. Mulder, H. Brown, 2021, The Journal of clinical investigation.

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

V. Lougaris, A. Plebani, S. Lyonnet, 2019, Nature Communications.

Common genetic variants improve risk stratification after the atrial switch operation for transposition of the great arteries.

M. Jongbloed, B. Mulder, F. Meijboom, 2022, International journal of cardiology.

Patient-Specific TBX5-G125R Variant Induces Profound Transcriptional Deregulation and Atrial Dysfunction

J. Uhm, I. B. Mathijssen, K. van Duijvenboden, 2022, Circulation.

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

Z. Bhuiyan, A. Postma, H. Bikker, 2006, Methods in molecular medicine.

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

A. Moorman, I. B. Mathijssen, P. Rump, 2010, Cardiovascular research.

Channel Mutation Causing Both Long-qt and Brugada Syndromes + a Single Na

A. Wilde, M. P. van den Berg, C. Bezzina, 2022 .

A single sodium channel mutation causing both long QT- and Brugada syndrome

A. Wilde, M. Mannens, I. M. Langen, 1999 .

Absence of Calsequestrin 2 Causes Severe Forms of Catecholaminergic Polymorphic Ventricular Tachycardia

A. Wilde, P. Guicheney, M. Mannens, 2002, Circulation research.

Identification of TBX5 mutations in a series of 94 patients with Tetralogy of Fallot

R. Ravazzolo, M. Digilio, B. Dallapiccola, 2014, American journal of medical genetics. Part A.

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

M. Mannens, A. Postma, M. V. van Haelst, 2020, American journal of medical genetics. Part A.

A Gain-of-Function TBX 5 Mutation Is Associated With Atypical Holt – Oram Syndrome and Paroxysmal Atrial Fibrillation

A. Moorman, A. Wilde, I. B. Mathijssen, 2008 .

A Gain-of-Function TBX5 Mutation Is Associated With Atypical Holt–Oram Syndrome and Paroxysmal Atrial Fibrillation

A. Moorman, A. Wilde, I. B. Mathijssen, 2008, Circulation research.

No prominent role for complement C1-esterase inhibitor in Marfan syndrome mice

V. de Waard, P. Krijnen, S. Hibender, 2022, Vascular biology.

The Authors' reply

B. Mulder, A. Postma, K. van Engelen, 2011, Heart.

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

Kathryn E. Hentges, Matthieu J. Miossec, G. Lathrop, 2019, Circulation research.

Deleterious genetic variants in NOTCH1 are a major contributor to the incidence of non-syndromic Tetralogy of Fallot

Kathryn E. Hentges, Matthieu J. Miossec, G. Bourque, 2018, bioRxiv.

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

A. Moorman, A. Wilde, R. L. Lekanne Deprez, 2013, Biochimica et biophysica acta.

Familial co-occurrence of congenital heart defects follows distinct patterns

Robert H. Anderson, S. Brunak, C. Workman, 2017, European heart journal.

An inactivating mutation in the histone deacetylase SIRT6 causes human perinatal lethality

R. Sadreyev, J. Denu, R. Mostoslavsky, 2018, Genes & development.

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

M. Nóbrega, T. Meitinger, M. Lathrop, 2021, Circulation research.

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

S. Heath, G. Lathrop, M. Farrall, 2013, Nature Genetics.

Identifying the Evolutionary Building Blocks of the Cardiac Conduction System

A. Moorman, V. Christoffels, Tobias Wang, 2012, PloS one.

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

Hui Jiang, Z. Bhuiyan, T. Momenah, 2016, Human mutation.

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

S. Heath, G. Lathrop, A. Moorman, 2013, Human molecular genetics.

The Ambiguous Role of NKX2-5 Mutations in Thyroid Dysgenesis

B. Mulder, V. Christoffels, A. Postma, 2012, PloS one.

The Clinical and Molecular Relations Between Idiopathic Preterm Labor and Maternal Congenital Heart Defects

B. Mulder, C. Ris-Stalpers, V. Christoffels, 2013, Reproductive Sciences.

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

J. Nikliński, R. Śmigiel, M. Mannens, 2019, Epigenomics.

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

I. van der Made, E. Creemers, W. Newman, 2019, The Journal of clinical investigation.

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

C. Bezzina, V. Christoffels, A. Postma, 2015, Journal of Human Genetics.

Mutations in the Sarcomere Gene MYH7 in Ebstein Anomaly

Bernard Keavney, Silke R. Sperling, Thomas Pickardt, 2011, Circulation. Cardiovascular genetics.

Haploinsufficiency of TAB2 causes congenital heart defects in humans.

Y. Moreau, P. Van Loo, L. Tranchevent, 2010, American journal of human genetics.

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

B. Mulder, B. Bouma, V. Christoffels, 2014, American journal of medical genetics. Part A.

Developmental and genetic aspects of atrial fibrillation.

A. Moorman, A. Postma, L. Dekker, 2009, Trends in cardiovascular medicine.

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

B. Mulder, R. Bökenkamp, D. Barge-Schaapveld, 2019, American journal of medical genetics. Part A.

Genetics of congenital heart disease: Beyond half-measures.

A. Postma, P. Barnett, 2015, Trends in cardiovascular medicine.

Molecular Genetics of Holt–Oram Syndrome

A. Postma, P. Barnett, 2014 .

Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

H. Mefford, I. Thiffault, T. Pastinen, 2021, Genetics in Medicine.

Genetic risk factors for common and rare cardiac rhythm disorders

A. Wilde, T. Koopmann, A. Postma, 2014 .

A Complex Double Deletion in LMNA Underlies Progressive Cardiac Conduction Disease, Atrial Arrhythmias, and Sudden Death

L. Jordaens, Y. Pinto, R. L. Lekanne Deprez, 2011, Circulation. Cardiovascular genetics.

Flotillins in the intercalated disc are potential modulators of cardiac excitability.

I. Efimov, M. Vos, T. V. van Veen, 2019, Journal of molecular and cellular cardiology.

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

R. Redon, Y. Pinto, A. Wilde, 2014, Journal of the American College of Cardiology.

Expanding Spectrum of Human RYR2-Related Disease: New Electrocardiographic, Structural, and Genetic Features

A. Wilde, M. P. van den Berg, A. Wilde, 2007, Circulation.

A Novel Early Onset Lethal Form of Catecholaminergic Polymorphic Ventricular Tachycardia Maps to Chromosome 7p14‐p22

A. Wilde, L. Al-Gazali, Z. Bhuiyan, 2007, Journal of cardiovascular electrophysiology.

Genetic aspects of cardiac arrythmia syndromes

A. Postma, 2003 .

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

E. Schulze-Bahr, A. Wilde, F. Müller, 2010, Journal of molecular and cellular cardiology.

A Case of Catecholaminergic Polymorphic Ventricular Tachycardia Caused by Two Calsequestrin 2 Mutations

I. V. van Langen, A. Postma, A. Meijer, 2008, Pacing and clinical electrophysiology : PACE.

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

Y. Pinto, A. Wilde, R. D. de Boer, 2017, European journal of heart failure.

Association between C677T Polymorphism of Methylene Tetrahydrofolate Reductase and Congenital Heart Disease: Meta-Analysis of 7,697 Cases and 13,125 Controls Running title: Mamasoula: MTHFR C677T polymorphism and congenital heart disease

G. Lathrop, M. Farrall, D. Zélénika, 2017 .

Association Between C677T Polymorphism of Methylene Tetrahydrofolate Reductase and Congenital Heart Disease: Meta-Analysis of 7697 Cases and 13 125 Controls

G. Lathrop, M. Farrall, A. Moorman, 2013, Circulation. Cardiovascular genetics.

Association between C 677 T Polymorphism of Methylene Tetrahydrofolate Reductase and Congenital Heart Disease : Meta-Analysis of 7 , 697 Cases and 13 , 125 Controls Running title : Mamasoula : MTHFR C 677 T polymorphism and congenital heart disease

Faith, G. Lathrop, D. Zélénika, 2013 .

Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene

R. Wolthuis, Q. Waisfisz, P. Postmus, 2023, Journal of Human Genetics.

Editorial commentary: Another notch for bicuspid aortic valve aortopathy?

V. de Waard, A. Postma, 2019, Trends in cardiovascular medicine.

Genomic organisation and chromosomal localisation of two members of the KCND ion channel family, KCND2 and KCND3

A. Moorman, A. Wilde, C. Bezzina, 2000, Human Genetics.

Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant

S. Robertson, J. Saris, M. V. van Slegtenhorst, 2021, American journal of medical genetics. Part A.

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

A. Moorman, M. Alders, A. Postma, 2013, Journal of Medical Genetics.

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

N. Lahrouchi, C. Bezzina, A. Postma, 2017, European Journal of Human Genetics.

Genetics of sinoatrial node function and heart rate disorders

V. Christoffels, A. Postma, Lieve E van der Maarel, 2023, Disease models & mechanisms.

Screening for 22q11.2 microdeletion in adults with tetralogy of Fallot Reply

B. Mulder, A. Postma, M. Baars, 2011 .

Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms

Masa Umicevic Mirkov, M. Hurles, R. Zwart, 2020, Genetics in Medicine.

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

M. Jongbloed, B. Mulder, A. G. Gittenberger-de Groot, 2014, Fetal Diagnosis and Therapy.

Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human

C. Mellersh, S. Katayama, K. Krjutškov, 2023, Genome Medicine.

Systolic and diastolic dysfunction in childhood cancer survivors

de Elisabeth G. E. Vries, J. Vonk, W. Kamps, 2008 .

Association Between C677T Polymorphism of Methylene Tetrahydrofolate Reductase and Congenital Heart Disease: Meta-Analysis of 7697 Cases and 13 125 Controls

M. Farrall, K. Devriendt, D. Zélénika, 2013, Circulation. Cardiovascular genetics.

The Clinical and Molecular Relations Between Idiopathic Preterm Labor and Maternal Congenital Heart Defects

B. Mulder, C. Ris-Stalpers, V. Christoffels, 2013, Reproductive Sciences.

Haploinsufficiency of TAB2 causes congenital heart defects in humans.

Y. Moreau, P. Van Loo, L. Tranchevent, 2010, American journal of human genetics.

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

Hui Jiang, Z. Bhuiyan, T. Momenah, 2016, Human mutation.

TGFBR1 Variants Can Associate with Non-Syndromic Congenital Heart Disease without Aortopathy

V. Christoffels, A. Postma, Nour Albesher, 2023, Journal of cardiovascular development and disease.

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

V. Lougaris, A. Plebani, S. Lyonnet, 2019, Nature Communications.

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

B. Mulder, B. Keavney, A. Postma, 2013, American journal of medical genetics. Part C, Seminars in medical genetics.

PRDM10 directs FLCN expression in a novel disorder overlapping with Birt–Hogg–Dubé syndrome and familial lipomatosis

R. Zwart, R. Wolthuis, Q. Waisfisz, 2022, Human molecular genetics.

Biallelic variants in POPDC2 cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathy

Gardar Sveinbjornsson, P. Postema, H. Hólm, 2024, medRxiv.