B. Gerull

发表

RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing

P. Ellinor, V. Regitz-Zagrosek, H. Schulz, 2012, Nature Medicine.

Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy

John Atherton, Siegfried Labeit, Henk Granzier, 2002, Nature Genetics.

Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype

E. Klopocki, J. Kühnisch, S. Störk, 2019, Human mutation.

Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2

Paul M. K. Gordon, C. Ober, H. Duff, 2019, JACC. Basic to translational science.

Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset

K. Klingel, E. Mershina, S. Boytsov, 2021, International journal of molecular sciences.

Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy.

P. Ellinor, B. Lerman, C. Basson, 2006, American journal of human genetics.

Mitofusin 2 Is Essential for IP3-Mediated SR/Mitochondria Metabolic Feedback in Ventricular Myocytes

G. Dorn, Moshi Song, M. Kohlhaas, 2019, Front. Physiol..

Between Disease-Causing and an Innocent Bystander: The Role of Titin as a Modifier in Hypertrophic Cardiomyopathy.

B. Gerull, 2017, The Canadian journal of cardiology.

Functional characterization of the novel DES mutation p.L136P associated with dilated cardiomyopathy reveals a dominant filament assembly defect.

W. Linke, D. Anselmetti, H. Milting, 2016, Journal of molecular and cellular cardiology.

Skin-heart connection: what can the epidermis tell us about the myocardium in arrhythmogenic cardiomyopathy?

B. Gerull, 2014, Circulation. Cardiovascular genetics.

Homozygous Founder Mutation in Desmocollin-2 (DSC2) Causes Arrhythmogenic Cardiomyopathy in the Hutterite Population

C. Ober, H. Duff, J. Chong, 2013, Circulation. Cardiovascular genetics.

A novel titin mutation in adult-onset familial dilated cardiomyopathy.

D. Freimark, E. Pras, M. Feinberg, 2012, The American journal of cardiology.

Mutations in ILK, encoding integrin-linked kinase, are associated with arrhythmogenic cardiomyopathy.

Steven J. M. Jones, T. Boggon, H. Duff, 2019, Translational research : the journal of laboratory and clinical medicine.

Novel Gene Locus for Autosomal Dominant Left Ventricular Noncompaction Maps to Chromosome 11p15

H. Hennies, P. Nürnberg, E. Oechslin, 2004, Circulation.

Transgenic mice overexpressing desmocollin-2 (DSC2) develop cardiomyopathy associated with myocardial inflammation and fibrotic remodeling

Paul M. K. Gordon, A. Nygren, L. Garnett, 2017, PloS one.

Hypercontractile Properties of Cardiac Muscle Fibers in a Knock-in Mouse Model of Cardiac Myosin-binding Protein-C*

M. Davies, W. Linke, B. Gerull, 2001, The Journal of Biological Chemistry.

Phenotypic Analysis of Arrhythmogenic Cardiomyopathy in the Hutterite Population: Role of Electrocardiogram in Identifying High‐Risk Desmocollin‐2 Carriers

H. Duff, D. Exner, L. Kolman, 2014, Journal of the American Heart Association.

Reversible Dilated Cardiomyopathy Caused by a High Burden of Ventricular Arrhythmias in Andersen-Tawil Syndrome.

H. Duff, Saman Rezazadeh, B. Gerull, 2016, The Canadian journal of cardiology.

Novel Mutation in LOX Associates With a Complex Aneurysmal Vascular and Cardiac Phenotype.

S. Rost, B. Gerull, Konstantinos Kolokotronis, 2021, Circulation. Genomic and precision medicine.

The Canadian Arrhythmogenic Right Ventricular Cardiomyopathy Registry: Rationale, Design, and Preliminary Recruitment.

J. Healey, A. Krahn, M. Gardner, 2016, The Canadian journal of cardiology.

Clinical Research Exome Sequencing Identifies a Novel Variant in ACTC1 Associated With Familial Atrial Septal Defect

Christoph Preuss, G. Andelfinger, Stacey Hume, 2014 .

Genetics of the faint-hearted: great results, alternate hypothesis.

A. Krahn, R. Sheldon, B. Gerull, 2011, Circulation. Cardiovascular genetics.

Outcome of Apparently Unexplained Cardiac Arrest: Results From Investigation and Follow-Up of the Prospective Cardiac Arrest Survivors With Preserved Ejection Fraction Registry

J. Healey, A. Krahn, G. Klein, 2016, Circulation. Arrhythmia and electrophysiology.

Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3

M. Holtgrewe, D. Beule, D. Messroghli, 2019, Clinical genetics.

Procainamide infusion in the evaluation of unexplained cardiac arrest: from the Cardiac Arrest Survivors with Preserved Ejection Fraction Registry (CASPER).

J. Healey, A. Skanes, A. Krahn, 2014, Heart rhythm.

Response to correspondence by Dr. Finsterer and Dr. Stöllberger: Heterogenous myopathic background of left ventricular hypertrabeculation/noncompaction

E. Oechslin, R. Jenni, B. Gerull, 2004 .

Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients

E. Oechslin, R. Jenni, B. Gerull, 2003, American journal of medical genetics. Part A.

Novel c.367_369del LMNA mutation manifesting as severe arrhythmias, dilated cardiomyopathy, and myopathy.

J. Finsterer, B. Gerull, R. Höftberger, 2012, Heart & lung : the journal of critical care.

Early repolarization syndrome: A case report focusing on dynamic electrocardiographic changes before ventricular arrhythmias and genetic analysis

H. Duff, B. Gerull, V. Tan, 2015, HeartRhythm case reports.

Epinephrine Infusion in the Evaluation of Unexplained Cardiac Arrest and Familial Sudden Death: From the Cardiac Arrest Survivors With Preserved Ejection Fraction Registry

J. Healey, A. Skanes, A. Krahn, 2012, Circulation. Arrhythmia and electrophysiology.

Congenital long QT syndrome: severe torsades de pointes provoked by epinephrine in a digenic mutation carrier.

H. Duff, B. Gerull, V. Tan, 2014, Heart & lung : the journal of critical care.

Altered Expression of TMEM43 Causes Abnormal Cardiac Structure and Function in Zebrafish

S. Childs, B. Gerull, M. Zink, 2022, International journal of molecular sciences.

Corrigendum: Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy

G. Breithardt, P. Ellinor, E. Schulze-Bahr, 2005, Nature Genetics.

Cardiomyocyte adhesion and hyperadhesion differentially require ERK1/2 and plakoglobin

J. Waschke, B. Gerull, T. Williams, 2020, JCI insight.

CRISPR/Cas9-edited PKP2 knock-out (JMUi001-A-2) and DSG2 knock-out (JMUi001-A-3) iPSC lines as an isogenic human model system for arrhythmogenic cardiomyopathy (ACM).

E. Klopocki, S. Ergün, S. Rost, 2021, Stem cell research.

Generation of two patient-derived iPSC lines from siblings (LIBUCi001-A and LIBUCi002-A) and a genetically modified iPSC line (JMUi001-A-1) to mimic dilated cardiomyopathy with ataxia (DCMA) caused by a homozygous DNAJC19 mutation.

H. Duff, E. Klopocki, S. Ergün, 2020, Stem cell research.

Genetic Insights into Primary Restrictive Cardiomyopathy

B. Gerull, A. Brodehl, 2022, Journal of clinical medicine.

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy

J. Schwartzentruber, M. McKinnon, S. Greenway, 2016, Human Mutation.

A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy

R. Dietz, B. Gerull, Karl‐Josef Osterziel, 1998, Human mutation.

Mutations in Sarcomere Protein Genes in Left Ventricular Noncompaction

F. Berger, E. Oechslin, R. Jenni, 2008, Circulation.

Meeting report - Desmosome dysfunction and disease: Alpine desmosome disease meeting.

A. Marian, R. Tikkanen, H. Milting, 2023, Journal of cell science.

Exome sequencing identifies a novel variant in ACTC1 associated with familial atrial septal defect.

Christoph Preuss, G. Andelfinger, Stacey Hume, 2014, The Canadian journal of cardiology.

New Insights on Genetic Diagnostics in Cardiomyopathy and Arrhythmia Patients Gained by Stepwise Exome Data Analysis

D. Messroghli, E. Klopocki, C. Maack, 2020, Journal of clinical medicine.

The Rapidly Evolving Role of Titin in Cardiac Physiology and Cardiomyopathy.

B. Gerull, 2015, The Canadian journal of cardiology.

Titin mutation in familial restrictive cardiomyopathy.

Paul M. K. Gordon, D. Geiger, S. Polak‐Charcon, 2014, International journal of cardiology.

Stress-induced dilated cardiomyopathy in a knock-in mouse model mimicking human titin-based disease.

Siegfried Labeit, Henk Granzier, Ludwig Thierfelder, 2009, Journal of molecular and cellular cardiology.

Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy

John Atherton, Siegfried Labeit, Henk Granzier, 2006, Journal of Molecular Medicine.

Titin isoform-dependent effect of calcium on passive myocardial tension.

Dietmar Labeit, Siegfried Labeit, H. Fujita, 2004, American journal of physiology. Heart and circulatory physiology.

Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

B. Fernandez, C. Polychronakos, M. Tarnopolsky, 2015, Clinical genetics.

Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (DES) Mutation p.Y122H Leading to a Severe Filament Assembly Defect

H. Milting, B. Gerull, D. Hendig, 2019, Genes.

Loss-of-Function KCNE2 Variants: True Monogenic Culprits of Long-QT Syndrome or Proarrhythmic Variants Requiring Secondary Provocation?

J. Healey, E. Behr, A. Moss, 2017, Circulation. Arrhythmia and electrophysiology.

Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry)

J. Healey, A. Krahn, G. Klein, 2017, Circulation. Cardiovascular genetics.

Cardiac Abnormalities in First-Degree Relatives of Unexplained Cardiac Arrest Victims: A Report From the Cardiac Arrest Survivors With Preserved Ejection Fraction Registry

J. Healey, A. Krahn, G. Klein, 2016, Circulation. Arrhythmia and electrophysiology.

Evolution of clinical diagnosis in patients presenting with unexplained cardiac arrest or syncope due to polymorphic ventricular tachycardia.

J. Healey, A. Krahn, M. Gardner, 2014, Heart rhythm.

Special Issue “Cardiovascular Genetics”

H. Milting, B. Gerull, A. Brodehl, 2021, Genes.

Genetic Animal Models for Arrhythmogenic Cardiomyopathy

B. Gerull, A. Brodehl, 2020, Frontiers in Physiology.

The Genetic Landscape of Cardiomyopathies

S. Klaassen, B. Gerull, A. Brodehl, 2019, Genetic Causes of Cardiac Disease.

Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy

Walter Birchmeier, Günter Breithardt, Rainer Dietz, 2004, Nature Genetics.

Insights Into Genetics and Pathophysiology of Arrhythmogenic Cardiomyopathy

B. Gerull, A. Brodehl, 2021, Current Heart Failure Reports.

A homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomy.

M. Deutsch, H. Milting, B. Klauke, 2020, Journal of molecular and cellular cardiology.

Immuno-metabolic interfaces in cardiac disease and failure.

A. Zernecke, Jan Dudek, C. Maack, 2021, Cardiovascular research.

Investigating LMNA-Related Dilated Cardiomyopathy Using Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes

E. Arbustini, E. Gottlieb, O. Binah, 2021, International journal of molecular sciences.

A novel locus for dilated cardiomyopathy, diffuse myocardial fibrosis, and sudden death on chromosome 10q25-26.

Calum A MacRae, Gregor Krings, Bong-Seok Song, 2006, Journal of the American College of Cardiology.

The Pore-Lipid Interface: Role of Amino-Acid Determinants of Lipophilic Access by Ivabradine to the hERG1 Pore Domain

Henry J. Duff, Sergei Yu Noskov, Meruyert Kudaibergenova, 2019, Molecular Pharmacology.

Myocardial work in hypertrophic cardiomyopathy - a new non-invasive parameter for segmental myocardial function?

C. Morbach, C. Maack, B. Gerull, 2022, European Heart Journal - Cardiovascular Imaging.

Mechanistic Insights of the LEMD2 p.L13R Mutation and Its Role in Cardiomyopathy

S. Ergün, M. Kohlhaas, C. Maack, 2023, Circulation research.

Genetic Association Study in Multigenerational Kindreds With Vasovagal Syncope: Evidence for Involvement of Sex-Specific Serotonin Signaling

J. Parboosingh, R. Sheldon, B. Gerull, 2019, Circulation. Arrhythmia and electrophysiology.

Antisense-mediated exon skipping: a therapeutic strategy for titin-based dilated cardiomyopathy

M. Mann, M. Murgia, M. Schaller, 2015, EMBO molecular medicine.

Have we found the genetic signature for vasovagal syncope?

R. Sheldon, B. Gerull, 2023, European heart journal.

EGFR inhibition leads to enhanced desmosome assembly and cardiomyocyte cohesion via ROCK activation

J. Waschke, Sina Moztarzadeh, R. Ludwig, 2023, JCI insight.

Molecular Insights into Arrhythmogenic Right Ventricular Cardiomyopathy Caused by Plakophilin-2 Missense Mutations

W. Haverkamp, G. Dittmar, U. Heinemann, 2012, Circulation. Cardiovascular genetics.

Ultra-high field cardiac MRI in large animals and humans for translational cardiovascular research

A. Zernecke, W. Bauer, L. Schreiber, 2023, Frontiers in Cardiovascular Medicine.

Plakophilin 2 regulates intestinal barrier function by modulating protein kinase C activity in vitro

J. Waschke, N. Schlegel, B. Gerull, 2022, Tissue barriers.

At risk or not at risk - the contribution of clinical and genetic risk factors to atrial fibrillation.

B. Gerull, 2021, The Canadian journal of cardiology.

Spatial relationship between mitral valve and ventricular septum assessed by resting echocardiography to diagnose left ventricular outflow tract obstruction in hypertrophic cardiomyopathy

C. Morbach, S. Störk, A. Zirlik, 2023, European heart journal. Cardiovascular Imaging.

A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients

L. Mestroni, M. P. van den Berg, D. Judge, 2023, Journal of cardiovascular translational research.

Gendiagnostik bei kardiovaskulären Erkrankungen

B. Meder, S. Klaassen, B. Gerull, 2023, Die Kardiologie.

Functional characterization of the novel DES mutation p.L136P associated with dilated cardiomyopathy reveals a dominant filament assembly defect

W. Linke, D. Anselmetti, H. Milting, 2016 .

A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy

R. Dietz, K. Osterziel, B. Gerull, 1998, Human mutation.

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy

J. Schwartzentruber, M. McKinnon, S. Greenway, 2016, Human mutation.

Mutations in Sarcomere Protein Genes in Left Ventricular Noncompaction

F. Berger, E. Oechslin, R. Jenni, 2008, Circulation.

Skin-heart connection: what can the epidermis tell us about the myocardium in arrhythmogenic cardiomyopathy?

B. Gerull, 2014, Circulation. Cardiovascular genetics.

Response to Letter Regarding Article, "Outcome of Apparently Unexplained Cardiac Arrest: Results From Investigation and Follow-Up of the Prospective Cardiac Arrest Survivors With Preserved Ejection Fraction Registry".

J. Healey, A. Krahn, G. Klein, 2016, Circulation. Arrhythmia and electrophysiology.

Outcome of Apparently Unexplained Cardiac Arrest: Results From Investigation and Follow-Up of the Prospective Cardiac Arrest Survivors With Preserved Ejection Fraction Registry

J. Healey, A. Krahn, G. Klein, 2016, Circulation. Arrhythmia and electrophysiology.

Non-invasive estimation of left ventricular systolic peak pressure: a prerequisite to calculate myocardial work in hypertrophic obstructive cardiomyopathy

C. Morbach, B. Gerull, A. Batzner, 2023, European heart journal. Cardiovascular Imaging.

Human Mutation

J. Kühnisch, G. Mearini, B. Gerull, 2019 .