Lena Refsgaard
Copenhagen University Hospital
19 Papers
53 Citations
Lena Refsgaard is an academic researcher from Copenhagen University Hospital. The author has contributed to research in topics: Exome sequencing & Population. The author has an hindex of 11, co-authored 17 publications. Previous affiliations of Lena Refsgaard include University of Copenhagen & National Research Foundation of South Africa.
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Papers
Multi-Ethnic Genome-wide Association Study for Atrial Fibrillation
Carolina Roselli,Mark Chaffin,Lu-Chen Weng,Lu-Chen Weng,Stefanie Aeschbacher,Gustav Ahlberg,Christine M. Albert,Peter Almgren,Alvaro Alonso,Christopher D. Anderson,Christopher D. Anderson,Krishna G. Aragam,Krishna G. Aragam,Dan E. Arking,John Barnard,Traci M. Bartz,Emelia J. Benjamin,Emelia J. Benjamin,Nathan A. Bihlmeyer,Joshua C. Bis,Heather L. Bloom,Eric Boerwinkle,Erwin B. Bottinger,Jennifer A. Brody,Hugh Calkins,Archie Campbell,Thomas P. Cappola,John F. Carlquist,John F. Carlquist,Daniel I. Chasman,Daniel I. Chasman,Lin Y. Chen,Yii-Der Ida Chen,Eue Keun Choi,Seung Hoan Choi,Ingrid E. Christophersen,Ingrid E. Christophersen,Ingrid E. Christophersen,Mina K. Chung,John W. Cole,John W. Cole,David Conen,David Conen,James P. Cook,Harry J.G.M. Crijns,Michael J. Cutler,Scott M. Damrauer,Scott M. Damrauer,Brian R. Daniels,Dawood Darbar,Graciela Delgado,Joshua C. Denny,Martin Dichgans,Martin Dichgans,Marcus Dörr,Elton A. M. P. Dudink,Samuel C. Dudley,Nada Esa,Tõnu Esko,Tõnu Esko,Markku Eskola,Diane Fatkin,Diane Fatkin,Diane Fatkin,Stephan B. Felix,Ian Ford,Oscar H. Franco,Bastiaan Geelhoed,Raji P. Grewal,Raji P. Grewal,Vilmundur Gudnason,Xiuqing Guo,Namrata Gupta,Stefan Gustafsson,Rebecca Gutmann,Anders Hamsten,Tamara B. Harris,Caroline Hayward,Susan R. Heckbert,Susan R. Heckbert,Jussi Hernesniemi,Lynne J. Hocking,Albert Hofman,Andrea R. V. R. Horimoto,Jie Huang,Paul L. Huang,Jennifer E. Huffman,Erik Ingelsson,Erik Ingelsson,Esra Gucuk Ipek,Kaoru Ito,Jordi Jimenez-Conde,Jordi Jimenez-Conde,Renee Johnson,J. Wouter Jukema,Stefan Kääb,Mika Kähönen,Yoichiro Kamatani,John P. Kane,Adnan Kastrati,Sekar Kathiresan,Sekar Kathiresan,Petra Katschnig-Winter,Maryam Kavousi,Thorsten Kessler,Bas L.J.H. Kietselaer,Paulus Kirchhof,Marcus E. Kleber,Stacey Knight,Stacey Knight,José Eduardo Krieger,Michiaki Kubo,Lenore J. Launer,Jari Laurikka,Terho Lehtimäki,Kirsten Leineweber,Rozenn N. Lemaitre,Man Li,Man Li,Hong Euy Lim,Henry J. Lin,Honghuang Lin,Honghuang Lin,Lars Lind,Cecilia M. Lindgren,Marja-Liisa Lokki,Barry London,Ruth J. F. Loos,Siew-Kee Low,Yingchang Lu,Leo-Pekka Lyytikäinen,Peter W. Macfarlane,Patrik K. E. Magnusson,Anubha Mahajan,Rainer Malik,Alfredo José Mansur,Gregory M. Marcus,Lauren Margolin,Kenneth B. Margulies,Winfried März,Winfried März,David D. McManus,Olle Melander,Sanghamitra Mohanty,Jay A. Montgomery,Michael Morley,Andrew P. Morris,Martina Müller-Nurasyid,Andrea Natale,Saman Nazarian,Benjamin Neumann,Christopher Newton-Cheh,Christopher Newton-Cheh,Maartje N. Niemeijer,Kjell Nikus,Peter M. Nilsson,Raymond Noordam,Heidi Oellers,Morten S. Olesen,Marju Orho-Melander,Sandosh Padmanabhan,Hui Nam Pak,Guillaume Paré,Guillaume Paré,Nancy L. Pedersen,Joanna Pera,Alexandre C. Pereira,David J. Porteous,Bruce M. Psaty,Bruce M. Psaty,Sara L. Pulit,Sara L. Pulit,Sara L. Pulit,Clive R. Pullinger,Daniel J. Rader,Lena Refsgaard,Marta Ribasés,Marta Ribasés,Paul M. Ridker,Michiel Rienstra,Lorenz Risch,Dan M. Roden,Jonathan Rosand,Jonathan Rosand,Michael A. Rosenberg,Michael A. Rosenberg,Natalia S. Rost,Natalia S. Rost,Jerome I. Rotter,Samir Saba,Roopinder K. Sandhu,Renate B. Schnabel,Katharina Schramm,Heribert Schunkert,Claudia Schurman,Stuart A. Scott,Ilkka Seppälä,Christian M. Shaffer,Svati H. Shah,Alaa Shalaby,Alaa Shalaby,Jaemin Shim,M. Benjamin Shoemaker,Joylene E. Siland,Juha Sinisalo,Moritz F. Sinner,Agnieszka Slowik,Albert V. Smith,Blair H. Smith,J. Gustav Smith,J. Gustav Smith,Jonathan D. Smith,Nicholas L. Smith,Nicholas L. Smith,Elsayed Z. Soliman,Nona Sotoodehnia,Bruno H. Stricker,Albert Y. Sun,Han Sun,Jesper Hastrup Svendsen,Toshihiro Tanaka,Kahraman Tanriverdi,Kent D. Taylor,Maris Teder-Laving,Alexander Teumer,Sébastien Thériault,Sébastien Thériault,Stella Trompet,Nathan R. Tucker,Nathan R. Tucker,Arnljot Tveit,Arnljot Tveit,André G. Uitterlinden,Pim van der Harst,Isabelle C. Van Gelder,David R. Van Wagoner,Niek Verweij,Efthymia Vlachopoulou,Uwe Völker,Biqi Wang,Peter Weeke,Peter Weeke,Bob Weijs,Raul Weiss,Stefan Weiss,Quinn S. Wells,Kerri L. Wiggins,Jorge A. Wong,Daniel Woo,Bradford B. Worrall,Pil Sung Yang,Jie Yao,Zachary T. Yoneda,Tanja Zeller,Lingyao Zeng,Steven A. Lubitz,Steven A. Lubitz,Kathryn L. Lunetta,Kathryn L. Lunetta,Patrick T. Ellinor,Patrick T. Ellinor +260 more
TL;DR: This large, multi-ethnic genome-wide association study identifies 97 loci significantly associated with atrial fibrillation that are enriched for genes involved in cardiac development, electrophysiology, structure and contractile function.
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 Hørby Christensen,Laura Andreasen,Ahmad Sajadieh,Stig Haunsø,Stig Haunsø,Jesper Hastrup Svendsen,Jesper Hastrup Svendsen,Morten S. Olesen +11 more
TL;DR: Genotype prevalences up to more than one thousand times higher than expected from the phenotype prevalences in the general population are identified and their data suggest that a high number of these variants are not monogenic causes of cardiomyopathy.
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A novel KCND3 gain-of-function mutation associated with early-onset of persistent lone atrial fibrillation.
Morten S. Olesen,Lena Refsgaard,Lena Refsgaard,Anders G. Holst,Anders G. Holst,Anders Peter Larsen,Anders Peter Larsen,Søren Grubb,Søren Grubb,Stig Haunsø,Stig Haunsø,Jesper Hastrup Svendsen,Jesper Hastrup Svendsen,Søren-Peter Olesen,Søren-Peter Olesen,Nicole Schmitt,Nicole Schmitt,Kirstine Calloe +17 more
TL;DR: Electrophysiological analysis of KV4.3-A545P expressed in CHO-K1 cells revealed that peak-current density was increased and the onset of inactivation was slower compared with WT, resulting in a significant gain-of-function both in the absence and the presence of KChIP2.
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,Nora Linscheid,Jonas B. Nielsen,Mads Melbye,Mads Melbye,Stig Haunsø,Ahmad Sajadieh,Lu Camp,Søren-Peter Olesen,Simon Rasmussen,Alicia Lundby,Patrick T. Ellinor,Anders G. Holst,Jesper Hastrup Svendsen,Morten S. Olesen +18 more
TL;DR: Using whole-exome sequencing, the authors identify rare truncating variants in TTN that associate with familial and early-onset AF and show defects in cardiac sarcomere assembly in ttn.2-mutant zebrafish.
Sodium current and potassium transient outward current genes in Brugada syndrome: screening and bioinformatics.
Anders G. Holst,Siamak Saber,Massoud Houshmand,Elena Zaklyazminskaya,Yinman Wang,Yinman Wang,Henrik Jensen,Lena Refsgaard,Lena Refsgaard,Stig Haunsø,Stig Haunsø,Jesper Hastrup Svendsen,Jesper Hastrup Svendsen,Morten S. Olesen,Morten S. Olesen,Jacob Tfelt-Hansen,Jacob Tfelt-Hansen +16 more
TL;DR: In this paper, the genes SCN1B, SCN4B, MOG1, CAV3, and KCND3 were screened for variations in a population of negative Danish and Iranian BrS patients, as well as research prior associations using newly released exome data.
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