Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve <i>KCNH2</i>-LQTS Variant Classification and Cardiac Event Risk Stratification.
作者:
Matthew J,O'Neill [1]
;
Chai-Ann,Ng [2]
;
Takanori,Aizawa [3]
;
Luca,Sala [4]
;
Sahej,Bains [5]
;
Annika,Winbo [6]
;
Rizwan,Ullah [7]
;
Qianyi,Shen [8]
;
Chek-Ying,Tan [8]
;
Krystian,Kozek [7]
;
Loren R,Vanags [7]
;
Devyn W,Mitchell [7]
;
Alex,Shen [7]
;
Yuko,Wada [7]
;
Asami,Kashiwa [3]
;
Lia,Crotti [9]
;
Federica,Dagradi [4]
;
Giulia,Musu [4]
;
Carla,Spazzolini [4]
;
Raquel,Neves [5]
;
J Martijn,Bos [5]
;
John R,Giudicessi [5]
;
Xavier,Bledsoe [10]
;
Eric R,Gamazon [11]
;
Megan,Lancaster [7]
;
Andrew M,Glazer [7]
;
Bjorn C,Knollmann [7]
;
Dan M,Roden [7]
;
Jochen,Weile [12]
;
Frederick,Roth [12]
;
Joe-Elie,Salem [13]
;
Nikki,Earle [14]
;
Rachael,Stiles [15]
;
Taylor,Agee [16]
;
Christopher N,Johnson [16]
;
Minoru,Horie [17]
;
Jonathan,Skinner [18]
;
Michael J,Ackerman [5]
;
Peter J,Schwartz [4]
;
Seiko,Ohno [19]
;
Jamie I,Vandenberg [20]
;
Brett M,Kroncke [7]
作者单位:
Vanderbilt University School of Medicine, Medical Scientist Training Program, Nashville, TN, USA.;These authors contributed equally.
[1]
Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia.;School of Clinical Medicine, UNSW Sydney, Darlinghurst, NSW, Australia.;These authors contributed equally.
[2]
Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine Kyoto, Japan.
[3]
IRCCS, Istituto Auxologico Italiano, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milano, Italy.
[4]
Department of Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN, USA.
[5]
Department of Physiology, University of Auckland, Auckland, New Zealand.
[6]
Vanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
[7]
Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia.
[8]
IRCCS, Istituto Auxologico Italiano, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milano, Italy.;Department of Medicine and Surgery, University Milano Bicocca, Milan, Italy.
[9]
Vanderbilt University School of Medicine, Medical Scientist Training Program, Nashville, TN, USA.
[10]
Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
[11]
Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada.
[12]
Department of Cardiovascular Medicine, Hôpital Bichat, APHP, Université de Paris Cité, Paris, France.
[13]
Department of Medicine, University of Auckland, Auckland, New Zealand.
[14]
Department of Cardiology, Waikato Hospital, Hamilton, New Zealand.
[15]
Department of Chemistry, Mississippi State University, Starkville, MS 39759, USA.
[16]
Department of Cardiovascular Medicine, Shiga University of Medical Science, Shiga, Japan.
[17]
Sydney Children's Hospital Network, University of Sydney, Sydney, Australia.
[18]
Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center, Osaka, Japan.
[19]
Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia.;School of Clinical Medicine, UNSW Sydney, Darlinghurst, NSW, Australia.
[20]
DOI
10.1101/2024.02.01.24301443
PMID
38370760
发布时间
2024-12-02
- 浏览1
medRxiv
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