List of works - Elisabeth M Lodder

Aquaporin Channels in the Heart-Physiology and Pathophysiology

scientific article published on 25 April 2019

Arrhythmogenic right ventricular cardiomyopathy: growing evidence for complex inheritance.

scientific article published in December 2013

Clinical Assessment of the Pathogenicity of Unknown Variants in Long-QT Syndrome: Does the Pendulum Swing Back?

scientific article published on 04 April 2012

Clinical and Cytogenetic Analyses in Uveal Melanoma

scientific article published on 01 September 2006

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

scientific article published on 10 December 2021

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

scientific article published on January 2017

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

scientific article

Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1

scientific article published on 01 August 2008

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

scientific article published on 01 May 2016

Dissection of a quantitative trait locus for PR interval duration identifies Tnni3k as a novel modulator of cardiac conduction

scientific article

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

scientific article published on 15 March 2017

Familial Disease Is Not Always Genetic: A Family With Atrioventricular Block and Mitral Regurgitation

scientific article published on 16 December 2016

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

scientific article published on 10 August 2016

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

scientific article published on 29 January 2017

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

scientific article

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

scientific article published on 09 July 2019

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

scientific article published on 04 July 2016

Genome-wide identification of expression quantitative trait loci (eQTLs) in human heart

scientific article

Genomics of cardiac electrical function

scientific article

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

scientific article published in August 2014

Histological, immunohistochemical and transcriptomic characterization of human tracheoesophageal fistulas

scientific article published on 17 November 2020

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

scientific article published on 12 March 2019

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

scientific article published on 12 August 2009

Integrative genomic approach identifies multiple genes involved in cardiac collagen deposition.

scientific article

Introducing Genetics - 2nd Edition

scientific article published on June 2016

Letter by Vermeer et al Regarding Article, “Phenotypic Spectrum of HCN4 Mutations: A Clinical Case”

scientific article published on 01 May 2018

Mouse models in arrhythmogenic right ventricular cardiomyopathy.

scientific article published on 21 June 2012

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

scientific article published on 14 September 2017

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

scientific article published in May 2017

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

scientific article published on 26 February 2020

Sudden Cardiac Arrest and Rare Genetic Variants in the Community.

scientific article published on 22 January 2016

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

scientific article published on 17 August 2018

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

scientific article published on 24 July 2017

TNNI3K in cardiovascular disease and prospects for therapy.

scientific article published on 15 March 2015

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

scientific article published on 21 June 2017

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

scientific article published on 08 September 2015

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

scientific article published on 18 September 2019

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

scientific article

List of works by Elisabeth M Lodder

Aquaporin Channels in the Heart-Physiology and Pathophysiology

Arrhythmogenic right ventricular cardiomyopathy: growing evidence for complex inheritance.

Clinical Assessment of the Pathogenicity of Unknown Variants in Long-QT Syndrome: Does the Pendulum Swing Back?

Clinical and Cytogenetic Analyses in Uveal Melanoma

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

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

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

Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1

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

Dissection of a quantitative trait locus for PR interval duration identifies Tnni3k as a novel modulator of cardiac conduction

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

Familial Disease Is Not Always Genetic: A Family With Atrioventricular Block and Mitral Regurgitation

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

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

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

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

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

Genome-wide identification of expression quantitative trait loci (eQTLs) in human heart

Genomics of cardiac electrical function

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

Histological, immunohistochemical and transcriptomic characterization of human tracheoesophageal fistulas

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

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

Integrative genomic approach identifies multiple genes involved in cardiac collagen deposition.

Introducing Genetics - 2nd Edition

Letter by Vermeer et al Regarding Article, “Phenotypic Spectrum of HCN4 Mutations: A Clinical Case”

Mouse models in arrhythmogenic right ventricular cardiomyopathy.

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

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

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

Sudden Cardiac Arrest and Rare Genetic Variants in the Community.

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

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

TNNI3K in cardiovascular disease and prospects for therapy.

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

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

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

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