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Lena Refsgaard
Lena Refsgaard
Rigshospitalet
Verificeret mail på dadlnet.dk
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Multi-ethnic genome-wide association study for atrial fibrillation
C Roselli, MD Chaffin, LC Weng, S Aeschbacher, G Ahlberg, CM Albert, ...
Nature genetics 50 (9), 1225-1233, 2018
5942018
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants
C Andreasen, JB Nielsen, L Refsgaard, AG Holst, AH Christensen, ...
European Journal of Human Genetics 21 (9), 918-928, 2013
2362013
High prevalence of genetic variants previously associated with LQT syndrome in new exome data
L Refsgaard, AG Holst, G Sadjadieh, S Haunsø, JB Nielsen, MS Olesen
European Journal of Human Genetics 20 (8), 905-908, 2012
1452012
A novel KCND3 gain-of-function mutation associated with early-onset of persistent lone atrial fibrillation
MS Olesen, L Refsgaard, AG Holst, AP Larsen, S Grubb, S Haunsø, ...
Cardiovascular research 98 (3), 488-495, 2013
1232013
High prevalence of genetic variants previously associated with Brugada syndrome in new exome data
B Risgaard, R Jabbari, L Refsgaard, AG Holst, S Haunsø, A Sadjadieh, ...
Clinical genetics 84 (5), 489-495, 2013
1142013
Genome-wide study of atrial fibrillation identifies seven risk loci and highlights biological pathways and regulatory elements involved in cardiac development
JB Nielsen, LG Fritsche, W Zhou, TM Teslovich, OL Holmen, S Gustafsson, ...
The American Journal of Human Genetics 102 (1), 103-115, 2018
1042018
Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation
G Ahlberg, L Refsgaard, PR Lundegaard, L Andreasen, MF Ranthe, ...
Nature communications 9 (1), 4316, 2018
1012018
Very early-onset lone atrial fibrillation patients have a high prevalence of rare variants in genes previously associated with atrial fibrillation
MS Olesen, L Andreasen, J Jabbari, L Refsgaard, S Haunsø, SP Olesen, ...
Heart Rhythm 11 (2), 246-251, 2014
722014
Mutations in genes encoding cardiac ion channels previously associated with sudden infant death syndrome (SIDS) are present with high frequency in new exome data
C Andreasen, L Refsgaard, JB Nielsen, A Sajadieh, BG Winkel, ...
Canadian Journal of Cardiology 29 (9), 1104-1109, 2013
582013
IKs Gain‐ and Loss‐of‐Function in Early‐Onset Lone Atrial Fibrillation
AB Steffensen, L Refsgaard, MN Andersen, C Vallet, A Mujezinovic, ...
Journal of cardiovascular electrophysiology 26 (7), 715-723, 2015
382015
Sodium current and potassium transient outward current genes in Brugada syndrome: screening and bioinformatics
AG Holst, S Saber, M Houshmand, EV Zaklyazminskaya, Y Wang, ...
Canadian Journal of Cardiology 28 (2), 196-200, 2012
272012
Brugada syndrome risk loci seem protective against atrial fibrillation
L Andreasen, JB Nielsen, S Darkner, IE Christophersen, J Jabbari, ...
European Journal of Human Genetics 22 (12), 1357-1361, 2014
162014
Early-onset atrial fibrillation patients show reduced left ventricular ejection fraction and increased atrial fibrosis
L Andreasen, L Bertelsen, J Ghouse, PR Lundegaard, G Ahlberg, ...
Scientific reports 10 (1), 10039, 2020
142020
A Novel Loss-of-Function Variant in the Chloride Ion Channel Gene Clcn2 Associates with Atrial Fibrillation
TH Hansen, Y Yan, G Ahlberg, OB Vad, L Refsgaard, JL Dos Santos, ...
Scientific Reports 10 (1), 1453, 2020
92020
Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a PITX2 p. M200V mutation
C Mora, M Serzanti, A Giacomelli, S Beltramone, E Marchina, V Bertini, ...
Stem Cell Research 24, 8-11, 2017
82017
Screening of the ito regulatory subunit klf15 in patients with early-onset lone atrial fibrillation
MW Nielsen, MS Olesen, L Refsgaard
Frontiers in genetics 4, 48822, 2013
62013
Mutation analysis of the candidate genes SCN1B-4B, FHL1, and LMNA in patients with arrhythmogenic right ventricular cardiomyopathy
L Refsgaard, MS Olesen, DV Møller, M Christiansen, S Haunsø, ...
Applied & translational genomics 1, 44-46, 2012
52012
Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a KCNA5 p. D322H mutation
C Mora, M Serzanti, A Giacomelli, V Turco, E Marchina, V Bertini, ...
Stem Cell Research 24, 29-32, 2017
22017
Whole-Exome Sequencing Implicates Neuronal Calcium Channel with Familial Atrial Fibrillation
OB Vad, Y Yan, SH Bomholtz, JL Santos, N Schmitt, BH Bentzen
Frontiers in genetics 13, 806429, 2022
12022
Titin-truncating variants associates with atrial fibrillation, compromises assembly of the sarcomere
MS Olesen, P Lundegaard, G Ahlberg, L Refsgaard, L Andreasen, ...
EUROPEAN HEART JOURNAL 39, 16-16, 2018
12018
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Artikler 1–20