Elisabeth M. Lodder

发表

Targeting the Microtubule EB1-CLASP2 Complex Modulates NaV1.5 at Intercalated Discs

R. Redon, N. Galjart, F. Charpentier, 2021, Circulation research.

Gain-of-function mutation in SCN5A causes ventricular arrhythmias and early onset atrial fibrillation.

A. Wilde, N. Hofman, C. Bezzina, 2017, International journal of cardiology.

Intercalated disc abnormalities, reduced Na(+) current density, and conduction slowing in desmoglein-2 mutant mice prior to cardiomyopathic changes.

S. Rizzo, G. Thiene, C. Basso, 2012, Cardiovascular research.

Clinical and cytogenetic analyses in uveal melanoma.

A. de Klein, H. Beverloo, G. Luyten, 2006, Investigative ophthalmology & visual science.

Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies

Angharad M Roberts, D. O’Regan, M. Yacoub, 2021, Genetics in Medicine.

The genetic architecture of left ventricular non-compaction reveals both substantial overlap with other cardiomyopathies and a distinct aetiology in a subset of cases

Angharad M Roberts, D. O’Regan, S. Cook, 2020, European Heart Journal.

From Genome-Wide Association Studies to Cardiac Electrophysiology: Through the Maze of Biological Complexity

C. Gálvez-Montón, B. Boukens, V. Meijborg, 2020, Frontiers in Physiology.

Genomics of cardiac electrical function.

C. Bezzina, E. Lodder, Elisabeth M. Lodder, 2014, Briefings in functional genomics.

Gene expression profiling in uveal melanoma: two regions on 3p related to prognosis.

W. V. van IJcken, N. Naus, A. de Klein, 2008, Investigative ophthalmology & visual science.

Aquaporin Channels in the Heart—Physiology and Pathophysiology

R. Wilders, A. Verkerk, E. Lodder, 2019, International journal of molecular sciences.

Risk of Sudden Infant Death Syndrome Among Siblings of Children Who Died of Sudden Infant Death Syndrome in Denmark

E. Behr, C. Torp‐Pedersen, G. Gislason, 2023, JAMA network open.

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

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

The Brugada Syndrome Susceptibility Gene HEY2 Modulates Cardiac Transmural Ion Channel Patterning and Electrical Heterogeneity

B. de Jonge, R. Coronel, R. Wilders, 2017, Circulation research.

Switch From Fetal to Adult SCN5A Isoform in Human Induced Pluripotent Stem Cell–Derived Cardiomyocytes Unmasks the Cellular Phenotype of a Conduction Disease–Causing Mutation

A. Wilde, E. Schulze-Bahr, C. Bezzina, 2017, Journal of the American Heart Association.

Genome-wide association of multiple complex traits in outbred mice by ultra low-coverage sequencing

Steve D. M. Brown, R. Mott, S. Wells, 2016, Nature Genetics.

A Novel Familial Cardiac Arrhythmia Syndrome with Widespread ST-Segment Depression.

S. Brunak, A. Wilde, H. Wellens, 2018, The New England journal of medicine.

Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome

J. Skinner, E. Behr, M. Sheppard, 2017, Journal of the American College of Cardiology.

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

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

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.

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.

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.

Nicolas Guex, Arthur A M Wilde, Alexandre Reymond, 2016, American journal of human genetics.

The cardiac sodium channel gene SCN5A and its gene product NaV1.5: Role in physiology and pathophysiology.

A. Wilde, E. Lodder, C. Veerman, 2015, Gene.

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.

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.

Gene Expression Profiling in Uveal Melanoma : Two Regions on 3 p Related to Prognosis

W. Ijcken, N. Naus, A. Klein, 2008 .

Dissection of a Quantitative Trait Locus for PR Interval Duration Identifies Tnni3k as a Novel Modulator of Cardiac Conduction

D. Marchuk, P. Moerland, B. Scicluna, 2012, PLoS genetics.

Sudden Cardiac Arrest and Rare Genetic Variants in the Community

A. Wilde, H. Tan, M. P. van den Berg, 2016, Circulation. Cardiovascular genetics.

Ankyrin-B dysfunction predisposes to arrhythmogenic cardiomyopathy and is amenable to therapy.

John F. Robinson, L. Mestroni, J. Healey, 2019, 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.

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.

Nicolas Guex, Arthur A M Wilde, Alexandre Reymond, 2016, American journal of human genetics.

Systems Genetics Approaches in Rat Identify Novel Genes and Gene Networks Associated With Cardiac Conduction

E. Petretto, M. Pravenec, M. Heinig, 2018, Journal of the American Heart Association.

Supraventricular tachycardias, conduction disease, and cardiomyopathy in 3 families with the same rare variant in TNNI3K (p.Glu768Lys).

A. Wilde, Hanlin Gao, D. Tester, 2019, Heart rhythm.

The Diverse Roles of TNNI3K in Cardiac Disease and Potential for Treatment

E. Lodder, N. Muñoz-Martín, C. Pham, 2021, International journal of molecular sciences.

TNNI3K in cardiovascular disease and prospects for therapy.

C. Bezzina, E. Lodder, A. Milano, 2015, Journal of molecular and cellular cardiology.

Obesity Cardiovascular Disease and the Failure of Public Health Education

S. Boekholdt, H. Katus, C. Bezzina, 2022 .

Arrhythmogenic right ventricular cardiomyopathy: growing evidence for complex inheritance.

C. Bezzina, Elisabeth M. Lodder, 2013, Circulation. Cardiovascular genetics.

Mouse Models in Arrhythmogenic Right Ventricular Cardiomyopathy

S. Rizzo, E. Lodder, Elisabeth M. Lodder, 2012, Front. Physio..

The yield of postmortem genetic testing in sudden death cases with structural findings at autopsy

J. Skinner, E. Behr, M. Sheppard, 2019, European Journal of Human Genetics.

The yield of postmortem genetic testing in sudden death cases with structural findings at autopsy

J. Skinner, E. Behr, M. Sheppard, 2019, European Journal of Human Genetics.

Coxsackie and adenovirus receptor is a modifier of cardiac conduction and arrhythmia vulnerability in the setting of myocardial ischemia.

R. Coronel, J. D. de Bakker, C. D. dos Remedios, 2014, Journal of the American College of Cardiology.

Abstract 16031: Tnni3k is a Novel Modulator of Cardiac Conduction

D. Marchuk, P. Moerland, B. Scicluna, 2011 .

Low human dystrophin levels prevent cardiac electrophysiological and structural remodelling in a Duchenne mouse model

Annemieke Aartsma-Rus, A. Verkerk, C. Remme, 2021, Scientific Reports.

Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy

E. Petretto, Y. Pinto, E. Creemers, 2017, Genome Biology.

Seasonality of ventricular fibrillation at first myocardial infarction and association with viral exposure

C. Torp‐Pedersen, L. Køber, T. Gerds, 2020, PloS one.

Correction: Seasonality of ventricular fibrillation at first myocardial infarction and association with viral exposure

L. Køber, T. Gerds, S. Midgley, 2020, PloS one.

Complex Genetics of Cardiovascular Traits in Mice: F2-Mapping of QTLs and Their Underlying Genes.

C. Bezzina, E. Lodder, S. Podliesna, 2017, Methods in molecular biology.

Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly

B. Oostra, J. Coert, A. de Klein, 2009, Chromosome Research.

Genome-wide association of multiple complex traits in outbred mice by ultra low-1 coverage sequencing 2

R. Mott, S. Wells, B. Yee, 2016 .

Genome-Wide Identification of Expression Quantitative Trait Loci (eQTLs) in Human Heart

C. D. dos Remedios, A. George, P. Moerland, 2014, PloS one.

Histological, immunohistochemical and transcriptomic characterization of human tracheoesophageal fistulas

W. V. van IJcken, D. Tibboel, R. Rottier, 2020, PloS one.

Genetic Burden of TNNI3K in Diagnostic Testing of Patients With Dilated Cardiomyopathy and Supraventricular Arrhythmias

P. Ellinor, S. Choi, S. Lubitz, 2023, Circulation. Genomic and precision medicine.

The earliest events in BRAF ‐mutant colorectal cancer: exome sequencing of sessile serrated lesions with a tiny focus dysplasia or cancer reveals recurring mutations in two distinct progression pathways

G. Meijer, E. Dekker, B. Carvalho, 2022, The Journal of pathology.

Genetic variation in GNB5 causes bradycardia by augmenting the cholinergic response via increased acetylcholine-activated potassium current (IK,ACh)

R. Wilders, C. Bezzina, A. Verkerk, 2019, Disease Models & Mechanisms.

Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy

E. Petretto, F. Cambien, Y. Pinto, 2017, Genome Biology.

Understanding cardiac electrical phenotypes in the genomic era

D. Marchuk, P. Moerland, B. Scicluna, 2015 .

Dilation of the Aorta Ascendens Forms Part of the Clinical Spectrum of HCN4 Mutations.

A. Wilde, S. Boekholdt, H. Katus, 2016, Journal of the American College of Cardiology.

Integrative Genomic Approach Identifies Multiple Genes Involved in Cardiac Collagen Deposition

D. Arends, P. Moerland, B. Scicluna, 2014, Circulation. Cardiovascular genetics.

Pacing Discovery: G-Protein β Subunit Mutations in Sinus Node Dysfunction.

C. Bezzina, A. Verkerk, E. Lodder, 2017, Circulation research.

Two siblings with early repolarization syndrome: clinical and genetic characterization by whole-exome sequencing

C. Bode, C. Bezzina, M. Zehender, 2020, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

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.

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.

Sudden Cardiac Arrest and Rare Genetic Variants in the Community

A. Wilde, H. Tan, M. P. van den Berg, 2016, Circulation. Cardiovascular genetics.