List of works - Lena Refsgaard

A novel KCND3 gain-of-function mutation associated with early-onset of persistent lone atrial fibrillation

scientific article published on 11 February 2013

Brugada syndrome risk loci seem protective against atrial fibrillation

scientific article

Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a KCNA5 p.D322H mutation

scientific article published on 10 August 2017

Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a PITX2 p.M200V mutation

scientific article published on 10 August 2017

Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development

scientific article published on 27 December 2017

High prevalence of genetic variants previously associated with Brugada syndrome in new exome data.

scientific article

High prevalence of genetic variants previously associated with LQT syndrome in new exome data

scientific article

IKs Gain- and Loss-of-Function in Early-Onset Lone Atrial Fibrillation

scientific journal article

Multi-ethnic genome-wide association study for atrial fibrillation

article

Mutation analysis of the candidate genes SCN1B-4B, FHL1, and LMNA in patients with arrhythmogenic right ventricular cardiomyopathy

scientific article published on October 2012

Mutations in genes encoding cardiac ion channels previously associated with sudden infant death syndrome (SIDS) are present with high frequency in new exome data

scientific article

New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants

scientific article

Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation

scientific article published in Nature Communications

Screening of the ito regulatory subunit klf15 in patients with early-onset lone atrial fibrillation

scientific article published on 17 May 2013

Sodium current and potassium transient outward current genes in Brugada syndrome: screening and bioinformatics

scientific article published on 28 January 2012

Very early-onset lone atrial fibrillation patients have a high prevalence of rare variants in genes previously associated with atrial fibrillation

scientific article published on 18 October 2013

List of works by Lena Refsgaard

A novel KCND3 gain-of-function mutation associated with early-onset of persistent lone atrial fibrillation

Brugada syndrome risk loci seem protective against atrial fibrillation

Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a KCNA5 p.D322H mutation

Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a PITX2 p.M200V mutation

Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development

High prevalence of genetic variants previously associated with Brugada syndrome in new exome data.

High prevalence of genetic variants previously associated with LQT syndrome in new exome data

IKs Gain- and Loss-of-Function in Early-Onset Lone Atrial Fibrillation

Multi-ethnic genome-wide association study for atrial fibrillation

Mutation analysis of the candidate genes SCN1B-4B, FHL1, and LMNA in patients with arrhythmogenic right ventricular cardiomyopathy

Mutations in genes encoding cardiac ion channels previously associated with sudden infant death syndrome (SIDS) are present with high frequency in new exome data

New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants

Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation

Screening of the ito regulatory subunit klf15 in patients with early-onset lone atrial fibrillation

Sodium current and potassium transient outward current genes in Brugada syndrome: screening and bioinformatics

Very early-onset lone atrial fibrillation patients have a high prevalence of rare variants in genes previously associated with atrial fibrillation