Publications by authors named "Lena Refsgaard"

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Whole-Exome Sequencing Implicates Neuronal Calcium Channel with Familial Atrial Fibrillation.
Oliver Bundgaard Vad, Yannan Yan, Federico Denti, Gustav Ahlberg, Lena Refsgaard

Front Genet· January 2022

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Early-onset atrial fibrillation patients show reduced left ventricular ejection fraction and increased atrial fibrosis.
Laura Andreasen, Litten Bertelsen, Jonas Ghouse, Pia R Lundegaard, Gustav Ahlberg, Lena Refsgaard

Sci Rep· June 2020

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A Novel Loss-of-Function Variant in the Chloride Ion Channel Gene Clcn2 Associates with Atrial Fibrillation.
Thea Hyttel Hansen, Yannan Yan, Gustav Ahlberg, Oliver Bundgaard Vad, Lena Refsgaard

Sci Rep· January 2020

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Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation.
Gustav Ahlberg, Lena Refsgaard, Pia R Lundegaard, Laura Andreasen, Mattis F Ranthe

Nat Commun· October 2018

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Multi-ethnic genome-wide association study for atrial fibrillation.
Carolina Roselli, Mark D Chaffin, Lu-Chen Weng, Stefanie Aeschbacher, Gustav Ahlberg, Lena Refsgaard

Nat Genet· June 2018

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Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development.
Jonas B Nielsen, Lars G Fritsche, Wei Zhou, Tanya M Teslovich, Oddgeir L Holmen, Lena Refsgaard

Am J Hum Genet· January 2018

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Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a KCNA5 p.D322H mutation.
Cristina Mora, Marialaura Serzanti, Alessio Giacomelli, Valentina Turco, Eleonora Marchina, Lena Refsgaard

Stem Cell Res· October 2017

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Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a PITX2 p.M200V mutation.
Cristina Mora, Marialaura Serzanti, Alessio Giacomelli, Silvia Beltramone, Eleonora Marchina, Lena Refsgaard

Stem Cell Res· October 2017

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IKs Gain- and Loss-of-Function in Early-Onset Lone Atrial Fibrillation.
Annette Buur Steffensen, Lena Refsgaard, Martin Nybo Andersen, Cecilia Vallet, Amer Mujezinovic

J Cardiovasc Electrophysiol· July 2015

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Brugada syndrome risk loci seem protective against atrial fibrillation.
Laura Andreasen, Jonas B Nielsen, Stine Darkner, Ingrid E Christophersen, Javad Jabbari, Lena Refsgaard

Eur J Hum Genet· December 2014

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Very early-onset lone atrial fibrillation patients have a high prevalence of rare variants in genes previously associated with atrial fibrillation.
Morten S Olesen, Laura Andreasen, Javad Jabbari, Lena Refsgaard, Stig Haunsø

Heart Rhythm· February 2014

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New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.
Charlotte Andreasen, Jonas B Nielsen, Lena Refsgaard, Anders G Holst, Alex H Christensen

Eur J Hum Genet· September 2013

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Mutations in genes encoding cardiac ion channels previously associated with sudden infant death syndrome (SIDS) are present with high frequency in new exome data.
Charlotte Andreasen, Lena Refsgaard, Jonas B Nielsen, Ahmad Sajadieh, Bo G Winkel

Can J Cardiol· September 2013

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A novel KCND3 gain-of-function mutation associated with early-onset of persistent lone atrial fibrillation.
Morten Salling Olesen, Lena Refsgaard, Anders Gaarsdal Holst, Anders Peter Larsen, Søren Grubb

Cardiovasc Res· June 2013

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Screening of the ito regulatory subunit klf15 in patients with early-onset lone atrial fibrillation.
Morten Wagner Nielsen, Morten Salling Olesen, Lena Refsgaard, Stig Haunsø, Jesper Hastrup Svendsen

Front Genet· June 2013

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Mutation analysis of the candidate genes -, , and in patients with arrhythmogenic right ventricular cardiomyopathy.
Lena Refsgaard, Morten Salling Olesen, Daniel Vega Møller, Michael Christiansen, Stig Haunsø

Appl Transl Genom· December 2012

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High prevalence of genetic variants previously associated with LQT syndrome in new exome data.
Lena Refsgaard, Anders G Holst, Golnaz Sadjadieh, Stig Haunsø, Jonas B Nielsen

Eur J Hum Genet· August 2012

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Sodium current and potassium transient outward current genes in Brugada syndrome: screening and bioinformatics.
Anders G Holst, Siamak Saber, Massoud Houshmand, Elena V Zaklyazminskaya, Yinman Wang, Lena Refsgaard

Can J Cardiol· July 2012

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