Publications by authors named "David J Tester"

100Publications

Prevalence and Phenotypic Correlations of Calmodulinopathy-Causative Variants Detected in a Multi-Center Molecular Autopsy Cohort of Sudden Unexplained Death Victims.

Circ Genom Precis Med 2020 Nov 15. Epub 2020 Nov 15.

Department of Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory) & Department of Cardiovascular Medicine (Division of Heart Rhythm Services) & Department of Pediatric and Adolescent Medicine (Division of Pediatric Cardiology), Mayo Clinic, Rochester, MN.

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http://dx.doi.org/10.1161/CIRCGEN.120.003032DOI Listing
November 2020

Patients with Hypertrophic Cardiomyopathy Deemed Genotype Negative Based on Research Grade Genetic Analysis: Time for Repeat Diagnostic Testing with Next Generation Sequencing.

Circ Genom Precis Med 2020 Nov 14. Epub 2020 Nov 14.

Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory & Department of Cardiovascular Medicine/Division of Heart Rhythm Services, Windland Smith Rice Genetic Heart Rhythm Clinic & Department of Pediatric and Adolescent Medicine/Division of Pediatric Cardiology, Mayo Clinic, Rochester, MN.

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http://dx.doi.org/10.1161/CIRCGEN.120.003013DOI Listing
November 2020

Promise and Potential Peril With Lumacaftor for the Trafficking Defective Type 2 Long-QT Syndrome-Causative Variants, p.G604S, p.N633S, and p.R685P, Using Patient-Specific Re-Engineered Cardiomyocytes.

Circ Genom Precis Med 2020 Oct 17;13(5):466-475. Epub 2020 Sep 17.

Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory (B.J.O., C.S.J.K., S.K.H., D.Y., D.J.T., M.J.A.), Mayo Clinic, Rochester, MN.

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http://dx.doi.org/10.1161/CIRCGEN.120.002950DOI Listing
October 2020

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

Authors:
Roddy Walsh Najim Lahrouchi Rafik Tadros Florence Kyndt Charlotte Glinge Pieter G Postema Ahmad S Amin Eline A Nannenberg James S Ware Nicola Whiffin Francesco Mazzarotto Doris Škorić-Milosavljević Christian Krijger Elena Arbelo Dominique Babuty Hector Barajas-Martinez Britt M Beckmann Stéphane Bézieau J Martijn Bos Jeroen Breckpot Oscar Campuzano Silvia Castelletti Candan Celen Sebastian Clauss Anniek Corveleyn Lia Crotti Federica Dagradi Carlo de Asmundis Isabelle Denjoy Sven Dittmann Patrick T Ellinor Cristina Gil Ortuño Carla Giustetto Jean-Baptiste Gourraud Daisuke Hazeki Minoru Horie Taisuke Ishikawa Hideki Itoh Yoshiaki Kaneko Jørgen K Kanters Hiroki Kimoto Maria-Christina Kotta Ingrid P C Krapels Masahiko Kurabayashi Julieta Lazarte Antoine Leenhardt Bart L Loeys Catarina Lundin Takeru Makiyama Jacques Mansourati Raphaël P Martins Andrea Mazzanti Stellan Mörner Carlo Napolitano Kimie Ohkubo Michael Papadakis Boris Rudic Maria Sabater Molina Frédéric Sacher Hatice Sahin Georgia Sarquella-Brugada Regina Sebastiano Sanjay Sharma Mary N Sheppard Keiko Shimamoto M Benjamin Shoemaker Birgit Stallmeyer Johannes Steinfurt Yuji Tanaka David J Tester Keisuke Usuda Paul A van der Zwaag Sonia Van Dooren Lut Van Laer Annika Winbo Bo G Winkel Kenichiro Yamagata Sven Zumhagen Paul G A Volders Steven A Lubitz Charles Antzelevitch Pyotr G Platonov Katja E Odening Dan M Roden Jason D Roberts Jonathan R Skinner Jacob Tfelt-Hansen Maarten P van den Berg Morten S Olesen Pier D Lambiase Martin Borggrefe Kenshi Hayashi Annika Rydberg Tadashi Nakajima Masao Yoshinaga Johan B Saenen Stefan Kääb Pedro Brugada Tomas Robyns Daniela F Giachino Michael J Ackerman Ramon Brugada Josep Brugada Juan R Gimeno Can Hasdemir Pascale Guicheney Silvia G Priori Eric Schulze-Bahr Naomasa Makita Peter J Schwartz Wataru Shimizu Takeshi Aiba Jean-Jacques Schott Richard Redon Seiko Ohno Vincent Probst Elijah R Behr Julien Barc Connie R Bezzina

Genet Med 2020 Sep 7. Epub 2020 Sep 7.

Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.

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http://dx.doi.org/10.1038/s41436-020-00946-5DOI Listing
September 2020

Molecular characterization of the calcium release channel deficiency syndrome.

JCI Insight 2020 Aug 6;5(15). Epub 2020 Aug 6.

Windland Smith Rice Sudden Death Genomics Laboratory, Department of Molecular Pharmacology and Experimental Therapeutics; Division of Heart Rhythm Services, Department of Cardiovascular Medicine; and Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota, USA.

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http://dx.doi.org/10.1172/jci.insight.135952DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7455073PMC
August 2020

Corrected QT Interval-Polygenic Risk Score and Its Contribution to Type 1, Type 2, and Type 3 Long-QT Syndrome in Probands and Genotype-Positive Family Members.

Circ Genom Precis Med 2020 Aug 29;13(4):e002922. Epub 2020 May 29.

Windland Smith Rice Sudden Death Genomics Laboratory, Department of Molecular Pharmacology & Experimental Therapeutics (K.L.T., S.M.D., D.J.T., J.M.B., M.J.A.), Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1161/CIRCGEN.120.002922DOI Listing
August 2020

Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome.

Authors:
Najim Lahrouchi Rafik Tadros Lia Crotti Yuka Mizusawa Pieter G Postema Leander Beekman Roddy Walsh Kanae Hasegawa Julien Barc Marko Ernsting Kari L Turkowski Andrea Mazzanti Britt M Beckmann Keiko Shimamoto Ulla-Britt Diamant Yanushi D Wijeyeratne Yu Kucho Tomas Robyns Taisuke Ishikawa Elena Arbelo Michael Christiansen Annika Winbo Reza Jabbari Steven A Lubitz Johannes Steinfurt Boris Rudic Bart Loeys M Ben Shoemaker Peter E Weeke Ryan Pfeiffer Brianna Davies Antoine Andorin Nynke Hofman Federica Dagradi Matteo Pedrazzini David J Tester J Martijn Bos Georgia Sarquella-Brugada Óscar Campuzano Pyotr G Platonov Birgit Stallmeyer Sven Zumhagen Eline A Nannenberg Jan H Veldink Leonard H van den Berg Ammar Al-Chalabi Christopher E Shaw Pamela J Shaw Karen E Morrison Peter M Andersen Martina Müller-Nurasyid Daniele Cusi Cristina Barlassina Pilar Galan Mark Lathrop Markus Munter Thomas Werge Marta Ribasés Tin Aung Chiea C Khor Mineo Ozaki Peter Lichtner Thomas Meitinger J Peter van Tintelen Yvonne Hoedemaekers Isabelle Denjoy Antoine Leenhardt Carlo Napolitano Wataru Shimizu Jean-Jacques Schott Jean-Baptiste Gourraud Takeru Makiyama Seiko Ohno Hideki Itoh Andrew D Krahn Charles Antzelevitch Dan M Roden Johan Saenen Martin Borggrefe Katja E Odening Patrick T Ellinor Jacob Tfelt-Hansen Jonathan R Skinner Maarten P van den Berg Morten Salling Olesen Josep Brugada Ramón Brugada Naomasa Makita Jeroen Breckpot Masao Yoshinaga Elijah R Behr Annika Rydberg Takeshi Aiba Stefan Kääb Silvia G Priori Pascale Guicheney Hanno L Tan Christopher Newton-Cheh Michael J Ackerman Peter J Schwartz Eric Schulze-Bahr Vincent Probst Minoru Horie Arthur A Wilde Michael W T Tanck Connie R Bezzina

Circulation 2020 Jul 20;142(4):324-338. Epub 2020 May 20.

Amsterdam UMC, University of Amsterdam, Heart Center; Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, The Netherlands (N.L., R.T., Y.M., P.G.P., L.B., R.W., N.H., H.L.T., A.A.W., C.R.B.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.120.045956DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7382531PMC
July 2020

Phenotype-guided whole genome analysis in a patient with genetically elusive long QT syndrome yields a novel TRDN-encoded triadin pathogenetic substrate for triadin knockout syndrome and reveals a novel primate-specific cardiac TRDN transcript.

Heart Rhythm 2020 Jun 9;17(6):1017-1024. Epub 2020 May 9.

Windland Smith Rice Sudden Death Genomics Laboratory, Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, Minnesota; Division of Heart Rhythm Services, Department of Cardiovascular Medicine, Mayo Clinic, Rochester, Minnesota; Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota. Electronic address:

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http://dx.doi.org/10.1016/j.hrthm.2020.01.012DOI Listing
June 2020

Discovery and characterization of a monogenetic insult, caveolin-3-V37L, that precipitated oligo-proteomic perturbations governing repolarization reserve.

Int J Cardiol 2020 Nov 6;319:71-77. Epub 2020 May 6.

Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN 55905, USA; Department of Cardiovascular Medicine/Division of Heart Rhythm Services, Mayo Clinic, Rochester, MN 55905, USA; Department of Pediatric and Adolescent Medicine/Division of Pediatric Cardiology, Mayo Clinic, Rochester, MN 55905, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ijcard.2020.05.014DOI Listing
November 2020

Triadin Knockout Syndrome Is Absent in a Multi-Center Molecular Autopsy Cohort of Sudden Infant Death Syndrome and Sudden Unexplained Death in the Young and Is Extremely Rare in the General Population.

Circ Genom Precis Med 2020 04 13;13(2):e002731. Epub 2020 Mar 13.

Windland Smith Rice Sudden Death Genomics Laboratory, Department of Molecular Pharmacology and Experimental Therapeutics (D.J.C., D.J.T., S.M.D., M.J.A.), Mayo Clinic, Rochester, MN.

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http://dx.doi.org/10.1161/CIRCGEN.119.002731DOI Listing
April 2020

Prevalence and electrophysiological phenotype of rare SCN5A genetic variants identified in unexplained sudden cardiac arrest survivors.

Europace 2020 04;22(4):622-631

Division of Heart Rhythm Services, Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1093/europace/euz337DOI Listing
April 2020

Variant Frequency and Clinical Phenotype Call Into Question the Nature of Minor, Nonsyndromic Long-QT Syndrome-Susceptibility Gene-Disease Associations.

Circulation 2020 02 10;141(6):495-497. Epub 2020 Feb 10.

Department of Pediatric and Adolescent Medicine, Division of Pediatric Cardiology (R.K.R., M.J.A.), Mayo Clinic, Rochester, MN.

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http://dx.doi.org/10.1161/CIRCULATIONAHA.119.043131DOI Listing
February 2020

Clinical and functional reappraisal of alleged type 5 long QT syndrome: Causative genetic variants in the KCNE1-encoded minK β-subunit.

Heart Rhythm 2020 Jun 10;17(6):937-944. Epub 2020 Feb 10.

Department of Cardiovascular Medicine, Division of Heart Rhythm Services, Mayo Clinic, Rochester, Minnesota; Department of Pediatric and Adolescent Medicine, Division of Pediatric Cardiology, Mayo Clinic, Rochester, Minnesota; Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota. Electronic address:

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http://dx.doi.org/10.1016/j.hrthm.2020.02.003DOI Listing
June 2020

Utilization of the genome aggregation database, in silico tools, and heterologous expression patch-clamp studies to identify and demote previously published type 2 long QT syndrome: Causative variants from pathogenic to likely benign.

Heart Rhythm 2020 02 5;17(2):315-323. Epub 2019 Sep 5.

Mayo Clinic Graduate School of Biomedical Sciences, Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota; Department of Pediatric and Adolescent Medicine, Division of Pediatric Cardiology, Mayo Clinic, Rochester, Minnesota. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15475271193073
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http://dx.doi.org/10.1016/j.hrthm.2019.08.014DOI Listing
February 2020

Characterization of the CACNA1C-R518C Missense Mutation in the Pathobiology of Long-QT Syndrome Using Human Induced Pluripotent Stem Cell Cardiomyocytes Shows Action Potential Prolongation and L-Type Calcium Channel Perturbation.

Circ Genom Precis Med 2019 08 20;12(8):e002534. Epub 2019 Aug 20.

Department of Molecular Pharmacology and Experimental Therapeutics (S.I.E., D.Y., W.Z., S.M.D., D.J.T., J.M.B., C.S.J.K., M.J.A.).

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http://dx.doi.org/10.1161/CIRCGEN.119.002534DOI Listing
August 2019

Assessment and Validation of a Phenotype-Enhanced Variant Classification Framework to Promote or Demote RYR2 Missense Variants of Uncertain Significance.

Circ Genom Precis Med 2019 05;12(5):e002510

Departments of Cardiovascular Medicine (Division of Heart Rhythm Services), Pediatrics (Division of Pediatric Cardiology), and Molecular Pharmacology and Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN (D.J.T., J.M.B., M.J.A.).

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http://dx.doi.org/10.1161/CIRCGEN.119.002510DOI Listing
May 2019

A Novel Truncating Variant in FLNC-Encoded Filamin C May Serve as a Proarrhythmic Genetic Substrate for Arrhythmogenic Bileaflet Mitral Valve Prolapse Syndrome.

Mayo Clin Proc 2019 05 29;94(5):906-913. Epub 2019 Mar 29.

Clinician-Investigator Training Program, Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00256196183098
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http://dx.doi.org/10.1016/j.mayocp.2018.11.028DOI Listing
May 2019

Is variant pathogenicity in the eye of the beholder? A case of unexplained sudden cardiac arrest highlights the potentially dangerous role of historical rare variant compendia in rare variant adjudication.

HeartRhythm Case Rep 2019 Mar 11;5(3):163-168. Epub 2018 Dec 11.

Windland Smith Rice Sudden Death Genomics Laboratory, Department of Molecular Pharmacology & Experimental Therapeutics, Mayo Clinic, Rochester, Minnesota.

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http://dx.doi.org/10.1016/j.hrcr.2018.11.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6404365PMC
March 2019

Induced Pluripotent Stem Cell-Derived Cardiomyocytes from a Patient with MYL2-R58Q-Mediated Apical Hypertrophic Cardiomyopathy Show Hypertrophy, Myofibrillar Disarray, and Calcium Perturbations.

J Cardiovasc Transl Res 2019 10 22;12(5):394-403. Epub 2019 Feb 22.

Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN, 55905, USA.

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http://dx.doi.org/10.1007/s12265-019-09873-6DOI Listing
October 2019

Plakophilin-2 Truncation Variants in Patients Clinically Diagnosed With Catecholaminergic Polymorphic Ventricular Tachycardia and Decedents With Exercise-Associated Autopsy Negative Sudden Unexplained Death in the Young.

JACC Clin Electrophysiol 2019 01 1;5(1):120-127. Epub 2018 Nov 1.

Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota; Department of Cardiovascular Medicine, Division of Heart Rhythm Services, Mayo Clinic, Rochester, Minnesota; Department of Pediatric and Adolescent Medicine, Division of Pediatric Cardiology, Mayo Clinic, Rochester, Minnesota. Electronic address:

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http://dx.doi.org/10.1016/j.jacep.2018.09.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394846PMC
January 2019

International Triadin Knockout Syndrome Registry.

Circ Genom Precis Med 2019 02;12(2):e002419

Windland Smith Rice Sudden Death Genomics Laboratory, Department of Molecular Pharmacology and Experimental Therapeutics, Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, and Division of Heart Rhythm Services, Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN (D.J.C., D.J.T., J.R.G., J.M.B., R.K.R., M.J.A.).

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http://dx.doi.org/10.1161/CIRCGEN.118.002419DOI Listing
February 2019

Exome-Wide Rare Variant Analyses in Sudden Infant Death Syndrome.

J Pediatr 2018 12 26;203:423-428.e11. Epub 2018 Sep 26.

Department of Cardiovascular Medicine (Division of Heart Rhythm Services), Pediatrics (Division of Pediatric Cardiology), Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2018.08.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394853PMC
December 2018

A pore-localizing CACNA1C-E1115K missense mutation, identified in a patient with idiopathic QT prolongation, bradycardia, and autism spectrum disorder, converts the L-type calcium channel into a hybrid nonselective monovalent cation channel.

Heart Rhythm 2019 02 29;16(2):270-278. Epub 2018 Aug 29.

Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, Minnesota; Division of Heart Rhythm Services, Department of Cardiovascular Medicine, Mayo Clinic, Rochester, Minnesota; Division of Pediatric Cardiology, Department of Pediatrics, Mayo Clinic, Rochester, Minnesota. Electronic address:

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http://dx.doi.org/10.1016/j.hrthm.2018.08.030DOI Listing
February 2019

Noncardiac genetic predisposition in sudden infant death syndrome.

Genet Med 2019 03 24;21(3):641-649. Epub 2018 Aug 24.

Molecular and Clinical Sciences Research Institute, St George's University of London, London, United Kingdom.

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http://www.nature.com/articles/s41436-018-0131-4
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http://dx.doi.org/10.1038/s41436-018-0131-4DOI Listing
March 2019

Importance of Variant Interpretation in Whole-Exome Molecular Autopsy: Population-Based Case Series.

Circulation 2018 06;137(25):2705-2715

Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory (G.W.S., D.J.T., J.P.A., M.J.A.)

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http://dx.doi.org/10.1161/CIRCULATIONAHA.117.031053DOI Listing
June 2018

Even pore-localizing missense variants at highly conserved sites in -encoded K7.1 channels may have wild-type function and not cause type 1 long QT syndrome: Do not rely solely on the genetic test company's interpretation.

HeartRhythm Case Rep 2018 Feb 11;4(2):37-44. Epub 2017 Dec 11.

Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic Graduate School of Biomedical Sciences, Mayo Clinic, Rochester, Minnesota.

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http://dx.doi.org/10.1016/j.hrcr.2017.04.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5988472PMC
February 2018

Functional Invalidation of Putative Sudden Infant Death Syndrome-Associated Variants in the -Encoded Kv11.1 Channel.

Circ Arrhythm Electrophysiol 2018 05;11(5):e005859

Department of Physiology, Cardiovascular Research Center, Center for Muscle Biology, University of Kentucky, Lexington (J.L.S., A.R.H., D.E.B., B.P.D.).

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http://dx.doi.org/10.1161/CIRCEP.117.005859DOI Listing
May 2018

Long QT syndrome type 5-Lite: Defining the clinical phenotype associated with the potentially proarrhythmic p.Asp85Asn-KCNE1 common genetic variant.

Heart Rhythm 2018 08 3;15(8):1223-1230. Epub 2018 Apr 3.

Departments of Cardiovascular Medicine, Division of Heart Rhythm Services, Pediatric and Adolescent Medicine, Division of Pediatric Cardiology, and Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota. Electronic address:

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http://dx.doi.org/10.1016/j.hrthm.2018.03.038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6402333PMC
August 2018

Cardiac Genetic Predisposition in Sudden Infant Death Syndrome.

J Am Coll Cardiol 2018 03;71(11):1217-1227

Departments of Cardiovascular Medicine (Division of Heart Rhythm Services), Pediatrics (Division of Pediatric Cardiology), and Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, Minnesota. Electronic address:

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http://dx.doi.org/10.1016/j.jacc.2018.01.030DOI Listing
March 2018

Localization and functional consequences of a direct interaction between TRIOBP-1 and hERG proteins in the heart.

J Cell Sci 2018 03 22;131(6). Epub 2018 Mar 22.

Department of Neuroscience, Wisconsin Institutes for Medical Research, University of Wisconsin-Madison SMPH, 1111 Highland Ave. #5505, Madison, WI 53705, USA

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http://jcs.biologists.org/lookup/doi/10.1242/jcs.206730
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http://dx.doi.org/10.1242/jcs.206730DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5897710PMC
March 2018

Yield of the Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation.

Circ Genom Precis Med 2018 02;11(2):e001424

From the Mayo Clinic School of Medicine (J.D.K., M.J.A.), Medical Scientist Training Program (J.D.K., M.J.A.), Mayo Clinic Graduate School of Biomedical Sciences, Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory (J.D.K., D.J.T., M.J.A.), Division of Biomedical Statistics and Informatics, Department of Health Sciences Research (N.B.L.), Division of Heart Rhythm Services, Department of Cardiovascular Diseases (D.J.T., M.J.A.), and Division of Pediatric Cardiology, Department of Pediatrics (M.J.A.), Mayo Clinic, Rochester, MN; Department of Medicine, Stanford University, Stanford, CA (K.N.P.); Transgenomic Inc, New Haven, CT (T.E.C.); and Department of Clinical Genetics (H.B.) and Heart Centre, Department of Clinical and Experimental Cardiology (A.A.M.W.), Academic Medical Center, University of Amsterdam, The Netherlands.

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http://dx.doi.org/10.1161/CIRCGEN.116.001424DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6364978PMC
February 2018

Using the genome aggregation database, computational pathogenicity prediction tools, and patch clamp heterologous expression studies to demote previously published long QT syndrome type 1 mutations from pathogenic to benign.

Heart Rhythm 2018 04 2;15(4):555-561. Epub 2017 Dec 2.

Mayo Clinic Graduate School of Biomedical Sciences, Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota; Mayo Clinic School of Medicine, Mayo Clinic, Rochester, Minnesota; Department of Cardiovascular Diseases, Division of Heart Rhythm Services, Mayo Clinic, Rochester, Minnesota; Department of Pediatrics, Division of Pediatric Cardiology, Mayo Clinic, Rochester, Minnesota. Electronic address:

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http://dx.doi.org/10.1016/j.hrthm.2017.11.032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6383800PMC
April 2018

Irritable bowel syndrome patients have SCN5A channelopathies that lead to decreased Na1.5 current and mechanosensitivity.

Am J Physiol Gastrointest Liver Physiol 2018 04 22;314(4):G494-G503. Epub 2017 Nov 22.

Enteric NeuroScience Program, Division of Gastroenterology and Hepatology, Department of Physiology and Biomedical Engineering, Mayo Clinic , Rochester, Minnesota.

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http://dx.doi.org/10.1152/ajpgi.00016.2017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5966747PMC
April 2018

Genomic Triangulation and Coverage Analysis in Whole-Exome Sequencing-Based Molecular Autopsies.

Circ Cardiovasc Genet 2017 Oct;10(5)

From the Department of Molecular Pharmacology and Experimental Therapeutics (G.W.S., D.J.T., M.J.A.), Windland Smith Rice Sudden Death Genomics Laboratory (G.W.S., D.J.T., M.J.A.), Mayo Clinic Graduate School of Biomedical Sciences (G.W.S., D.J.T., M.J.A.), Division of Heart Rhythm Services, Department of Cardiovascular Diseases (D.J.T., M.J.A.), Department of Biomedical Statistics and Informatics (S.N., J.M.E.), and Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine (M.J.A.), Mayo Clinic, Rochester, MN.

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http://dx.doi.org/10.1161/CIRCGENETICS.117.001828DOI Listing
October 2017

Sudden infant death syndrome and inherited cardiac conditions.

Nat Rev Cardiol 2017 Dec 7;14(12):715-726. Epub 2017 Sep 7.

Cardiology Clinical Academic Group, Molecular and Clinical Sciences Research Institute, St George's University of London, Cranmer Terrace, London SW17 0RE, UK.

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http://dx.doi.org/10.1038/nrcardio.2017.129DOI Listing
December 2017

Whole genome sequencing identifies etiology of recurrent male intrauterine fetal death.

Prenat Diagn 2017 Oct 12;37(10):1040-1045. Epub 2017 Sep 12.

Mayo Clinic Graduate School of Biomedical Sciences, Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1002/pd.5142DOI Listing
October 2017

Whole exome sequencing with genomic triangulation implicates CDH2-encoded N-cadherin as a novel pathogenic substrate for arrhythmogenic cardiomyopathy.

Congenit Heart Dis 2017 Mar 21;12(2):226-235. Epub 2017 Mar 21.

Department of Molecular Pharmacology & Experimental Therapeutics; Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota, USA.

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http://dx.doi.org/10.1111/chd.12462DOI Listing
March 2017

Elucidation of -mediated Noonan syndrome with cardiac hypertrophy.

JCI Insight 2017 03 9;2(5):e91225. Epub 2017 Mar 9.

Department of Molecular Pharmacology and Experimental Therapeutics and Windland Smith Rice Sudden Death Genomics Laboratory.

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http://dx.doi.org/10.1172/jci.insight.91225DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5333962PMC
March 2017

Congenital myopathy associated with the triadin knockout syndrome.

Neurology 2017 Mar 15;88(12):1153-1156. Epub 2017 Feb 15.

From the Departments of Neurology and Muscle Research Laboratory (A.G.E., D.S.), Cardiovascular Diseases/Division of Heart Rhythm Services (A.G.E., D.S.), Pediatric and Adolescent Medicine/Division of Pediatric Cardiology (K.R.R., D.J.T., M.J.A.), and Molecular Pharmacology & Experimental Therapeutics/Windland Smith Rice Sudden Death Genomics Laboratory (K.R.R., D.J.T., M.J.A.), Mayo College of Medicine, Rochester, MN.

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http://dx.doi.org/10.1212/WNL.0000000000003745DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5373784PMC
March 2017

Evaluating the survivor or the relatives of those who do not survive: the role of genetic testing.

Cardiol Young 2017 Jan;27(S1):S19-S24

Departments of Cardiovascular Diseases,Pediatrics and Molecular Pharmacology & Experimental Therapeutics,Divisions of Heart Rhythm Services and Pediatric Cardiology,Windland Smith Rice Sudden Death Genomics Laboratory,Mayo Clinic,Rochester,Minnesota,United States of America.

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http://dx.doi.org/10.1017/S1047951116002183DOI Listing
January 2017

The Promise and Peril of Precision Medicine: Phenotyping Still Matters Most.

Mayo Clin Proc 2016 Oct 8. Epub 2016 Oct 8.

Division of Heart Rhythm Services, Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN; Division of Pediatric Cardiology, Department of Pediatrics, Mayo Clinic, Rochester, MN; Windland Smith Rice Sudden Death Genomics Laboratory, Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, MN. Electronic address:

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http://dx.doi.org/10.1016/j.mayocp.2016.08.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6365209PMC
October 2016

A Precision Medicine Approach to the Rescue of Function on Malignant Calmodulinopathic Long-QT Syndrome.

Circ Res 2017 Jan 20;120(1):39-48. Epub 2016 Oct 20.

From the Calcium Signals Laboratory, Department of Biomedical Engineering (W.B.L., I.E.D., W.Y., M.H.C., J.B., D.T.Y.) and Division of Cardiology, Department of Medicine (P.L., D.D., G.F.T.), The Johns Hopkins University School of Medicine, Baltimore, MD; Department of Physiology, The University of Maryland School of Medicine, Baltimore (I.E.D.); Division of Heart Rhythm Services, Department of Cardiovascular Diseases (D.J.T., N.J.B., M.J.A.), Division of Pediatric Cardiology, Department of Pediatrics (D.J.T., N.J.B., M.J.A.), and Windland Smith Rice Sudden Death Genomics Laboratory, Department of Molecular Pharmacology and Experimental Therapeutics (D.J.T., N.J.B., M.J.A.), Mayo Clinic, Rochester, MN; and Division of Cardiology, Nicklaus Children's Hospital, Miami, FL (R.J.K.).

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http://dx.doi.org/10.1161/CIRCRESAHA.116.309283DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5516949PMC
January 2017

Clinical Aspects of Type 3 Long-QT Syndrome: An International Multicenter Study.

Circulation 2016 Sep 26;134(12):872-82. Epub 2016 Aug 26.

From AMC Heart Centre, Department of Clinical and Experimental Cardiology (A.A.M.W., C.R.B.) and Department of Clinical Genetics (N.H., M.A.), Academic Medical Center, Amsterdam, The Netherlands; Cardiology Division of the Department of Medicine (A.J.M., C.L., W.Z., I.G., J.L.R., M.L.A., S.M., B.P.), the Department of Biostatistics (D.R.P.), and the Department of Pathology (M.Q.), University of Rochester School of Medicine and Dentistry, Rochester, NY; Heart and Vascular Research Center, MetroHealth Campus of Case Western Reserve University, Cleveland, OH (E.S.K.); Department of Cardiovascular Medicine, Graduate School of Medicine, Nippon Medical School, Tokyo, Japan (W.S.); Department of Cardiology Bikur Cholim Hospital, Jerusalem, Israel (J.B.); Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH (J.A.T.); IRCCS Istituto Auxologico Italiano, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milan, Italy (C.P. L.C., P.J.S.); Department of Cardiology, Gentofte University Hospital, Copenhagen, Denmark (J.K.K.); Departments of Medicine, Pediatrics, and Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN (D.J.T., M.J.A.); Division of Arrhythmia and Electrophysiology, Department of Cardiovascular Medicine (W.S.) and Department of Preventive Cardiology (Y.M.), National Cerebral and Cardiovascular Center, Suita, Japan; Department of Molecular Medicine, University of Pavia, Italy (L.C.); Princess Al-Jawhara Al-Brahim Centre of Excellence in Research of Hereditary Disorders, Jeddah, Kingdom of Saudi Arabia (A.A.M.W.); and Department of Cardiovascular, Neural and Metabolic Sciences, San Luca Hospital IRCCS Istituto Auxologico Italiano, Milan, Italy (L.C., P.J.S.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.116.021823DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5030177PMC
September 2016

Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks.

Circ Arrhythm Electrophysiol 2016 08;9(8)

From the Vanderbilt Center for Arrhythmia Research and Therapeutics (VanCART), Division of Clinical Pharmacology, Vanderbilt University School of Medicine, Nashville, TN (N.G.-H., D.O.K., B.C.K.); Department Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory (N.J.B., M.L.C., D.J.T., M.J.A.), Department of Cardiovascular Diseases, Division of Heart Rhythm Services (M.J.A.), and Department of Pediatrics, Division of Pediatric Cardiology (M.J.A.), Mayo Clinic, Rochester, MN; Departments of Biochemistry and Chemistry & Center for Structural Biology, Vanderbilt University, Nashville, TN (C.N.J., J.S., W.J.C.); and Department of Biochemistry, Molecular Biology & Biophysics, University of Minnesota, Minneapolis, MN (F.R.N., R.L.C.).

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http://dx.doi.org/10.1161/CIRCEP.116.004161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4988333PMC
August 2016

Whole Exome Sequencing, Familial Genomic Triangulation, and Systems Biology Converge to Identify a Novel Nonsense Mutation in TAB2-encoded TGF-beta Activated Kinase 1 in a Child with Polyvalvular Syndrome.

Congenit Heart Dis 2016 Sep 25;11(5):452-461. Epub 2016 Jul 25.

Departments of Cardiovascular Diseases (Division of Heart Rhythm Services), Pediatrics (Division of Pediatric Cardiology), and Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, Minn, USA.

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http://dx.doi.org/10.1111/chd.12400DOI Listing
September 2016

Molecular and Functional Characterization of Rare CACNA1C Variants in Sudden Unexplained Death in the Young.

Congenit Heart Dis 2016 Dec 24;11(6):683-692. Epub 2016 May 24.

Department of Molecular Pharmacology & Experimental Therapeutics, Windland, Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minn, USA.

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http://dx.doi.org/10.1111/chd.12371DOI Listing
December 2016

Whole-Exome Molecular Autopsy After Exertion-Related Sudden Unexplained Death in the Young.

Circ Cardiovasc Genet 2016 Jun 25;9(3):259-65. Epub 2016 Apr 25.

From the Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine (J.H.A., M.J.A.), Department of Molecular Pharmacology and Experimental Therapeutics/Windland Smith Rice Sudden Death Genomics Laboratory (D.J.T., M.L.W., M.J.A.), and Division of Cardiovascular Diseases, Department of Medicine, Mayo Clinic, Rochester, MN (M.J.A.).

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http://dx.doi.org/10.1161/CIRCGENETICS.115.001370DOI Listing
June 2016

Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental Delay.

Pediatr Neurol 2016 Feb 6;55:46-51. Epub 2015 Nov 6.

Division of Cardiovascular Diseases, Department of Medicine, Mayo Clinic, Rochester, Minnesota; Department of Pediatric and Adolescent Medicine (Division of Pediatric Cardiology), Mayo Clinic, Rochester, Minnesota; Department of Molecular Pharmacology & Experimental Therapeutics, Mayo Clinic, Rochester, Minnesota. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2015.10.014DOI Listing
February 2016

Identification and Functional Characterization of a Novel CACNA1C-Mediated Cardiac Disorder Characterized by Prolonged QT Intervals With Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac Death.

Circ Arrhythm Electrophysiol 2015 Oct 7;8(5):1122-32. Epub 2015 Aug 7.

From the Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory (N.J.B., D.Y., D.J.T., J.M.B., M.J.A.), Division of Immunology and Neurology (F.J., A.H., A.J.J.), and Departments of Medicine (Division of Cardiovascular Diseases) and Pediatrics (Division of Pediatric Cardiology) (M.J.A.), Mayo Clinic, Rochester, MN; Division of Cardiology, Nicklaus Children's Hospital, Miami, FL (R.K.).

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http://dx.doi.org/10.1161/CIRCEP.115.002745DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5094060PMC
October 2015

Homozygous/Compound Heterozygous Triadin Mutations Associated With Autosomal-Recessive Long-QT Syndrome and Pediatric Sudden Cardiac Arrest: Elucidation of the Triadin Knockout Syndrome.

Circulation 2015 Jun 28;131(23):2051-60. Epub 2015 Apr 28.

From Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory (H.M.A., D.J.T., M.L.W., M.J.A.), Department of Medicine/Division of Cardiovascular Diseases (D.J.T., M.L.W., M.J.A.), Medical Genome Facility (B.W.E.), and Department of Pediatrics/Division of Pediatric Cardiology (M.J.A.), Mayo Clinic, Rochester, MN; and Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo College of Medicine, Rochester, MN (S.M., J.M.E.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.115.015397DOI Listing
June 2015

Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.

Circ Cardiovasc Genet 2015 Aug 22;8(4):582-95. Epub 2015 Apr 22.

From the Departments of Medicine (Division of Cardiovascular Diseases), Pediatrics (Division of Pediatric Cardiology), and Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN (J.D.K., J.R.G., D.Y., D.J.T., M.J.A.); Transgenomic Inc., New Haven, CT (T.E.C.); Division of Cardiovascular Medicine, Department of Medicine, University of Wisconsin, Madison (C.R.V., J.C.M.); Department of Cardiology, Heart Center, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands (A.A.W.); and Princess Al-Jawhara Al-Brahim Centre of Excellence in Research of Hereditary Disorders, Jeddah, Kingdom of Saudi Arabia (A.A.W.).

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http://dx.doi.org/10.1161/CIRCGENETICS.114.000831DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4878676PMC
August 2015

Post-mortem Whole exome sequencing with gene-specific analysis for autopsy-negative sudden unexplained death in the young: a case series.

Pediatr Cardiol 2015 Apr 13;36(4):768-78. Epub 2014 Dec 13.

Division of Cardiovascular Diseases, Department of Internal Medicine, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1007/s00246-014-1082-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4907366PMC
April 2015

Novel Timothy syndrome mutation leading to increase in CACNA1C window current.

Heart Rhythm 2015 Jan 28;12(1):211-9. Epub 2014 Sep 28.

Departments of Pediatrics and Medical and Molecular Genetics, Indiana University School of Medicine, Herman B Wells Center for Pediatric Research, Indianapolis, Indiana. Electronic address:

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http://dx.doi.org/10.1016/j.hrthm.2014.09.051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4907369PMC
January 2015

A CACNA1C variant associated with reduced voltage-dependent inactivation, increased CaV1.2 channel window current, and arrhythmogenesis.

PLoS One 2014 3;9(9):e106982. Epub 2014 Sep 3.

Department of Pharmacology and Cancer Biology, Duke University School of Medicine, Durham, North Carolina, United States of America; Department of Neurobiology, Duke University School of Medicine, Durham, North Carolina, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0106982PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4153713PMC
November 2015

Characterization of SEMA3A-encoded semaphorin as a naturally occurring Kv4.3 protein inhibitor and its contribution to Brugada syndrome.

Circ Res 2014 Aug 24;115(4):460-9. Epub 2014 Jun 24.

From the Center for Clinical and Translational Science (N.J.B.) and Mayo Graduate School (N.J.B.), Department Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory (D.Y., D.J.T., J.R.G., M.J.A.), Department of Medicine (J.R.G.), Division of Cardiovascular Diseases (M.J.A.), and Division of Pediatric Cardiology (M.J.A.), Mayo Clinic, Rochester, MN; Department of Molecular Biology and Pharmacology, Washington University School of Medicine, St Louis, MO (E.K.J., W.W., J.M.N.); Department of Molecular Medicine, University of Pavia, Pavia, Italy (L.C.); Center for Cardiac Arrhythmias of Genetic Origin, IRCCS Istituto Auxologico Italiano, Milan, Italy (L.C., F.D., M.T., P.J.S.); Institute of Human Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany (L.C.); and Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, The Netherlands (Y.M., M.A., A.A.M.W.).

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http://dx.doi.org/10.1161/CIRCRESAHA.115.303657DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4907370PMC
August 2014

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

Authors:
Dan E Arking Sara L Pulit Lia Crotti Pim van der Harst Patricia B Munroe Tamara T Koopmann Nona Sotoodehnia Elizabeth J Rossin Michael Morley Xinchen Wang Andrew D Johnson Alicia Lundby Daníel F Gudbjartsson Peter A Noseworthy Mark Eijgelsheim Yuki Bradford Kirill V Tarasov Marcus Dörr Martina Müller-Nurasyid Annukka M Lahtinen Ilja M Nolte Albert Vernon Smith Joshua C Bis Aaron Isaacs Stephen J Newhouse Daniel S Evans Wendy S Post Daryl Waggott Leo-Pekka Lyytikäinen Andrew A Hicks Lewin Eisele David Ellinghaus Caroline Hayward Pau Navarro Sheila Ulivi Toshiko Tanaka David J Tester Stéphanie Chatel Stefan Gustafsson Meena Kumari Richard W Morris Åsa T Naluai Sandosh Padmanabhan Alexander Kluttig Bernhard Strohmer Andrie G Panayiotou Maria Torres Michael Knoflach Jaroslav A Hubacek Kamil Slowikowski Soumya Raychaudhuri Runjun D Kumar Tamara B Harris Lenore J Launer Alan R Shuldiner Alvaro Alonso Joel S Bader Georg Ehret Hailiang Huang W H Linda Kao James B Strait Peter W Macfarlane Morris Brown Mark J Caulfield Nilesh J Samani Florian Kronenberg Johann Willeit J Gustav Smith Karin H Greiser Henriette Meyer Zu Schwabedissen Karl Werdan Massimo Carella Leopoldo Zelante Susan R Heckbert Bruce M Psaty Jerome I Rotter Ivana Kolcic Ozren Polašek Alan F Wright Maura Griffin Mark J Daly David O Arnar Hilma Hólm Unnur Thorsteinsdottir Joshua C Denny Dan M Roden Rebecca L Zuvich Valur Emilsson Andrew S Plump Martin G Larson Christopher J O'Donnell Xiaoyan Yin Marco Bobbo Adamo P D'Adamo Annamaria Iorio Gianfranco Sinagra Angel Carracedo Steven R Cummings Michael A Nalls Antti Jula Kimmo K Kontula Annukka Marjamaa Lasse Oikarinen Markus Perola Kimmo Porthan Raimund Erbel Per Hoffmann Karl-Heinz Jöckel Hagen Kälsch Markus M Nöthen Marcel den Hoed Ruth J F Loos Dag S Thelle Christian Gieger Thomas Meitinger Siegfried Perz Annette Peters Hanna Prucha Moritz F Sinner Melanie Waldenberger Rudolf A de Boer Lude Franke Pieter A van der Vleuten Britt Maria Beckmann Eimo Martens Abdennasser Bardai Nynke Hofman Arthur A M Wilde Elijah R Behr Chrysoula Dalageorgou John R Giudicessi Argelia Medeiros-Domingo Julien Barc Florence Kyndt Vincent Probst Alice Ghidoni Roberto Insolia Robert M Hamilton Stephen W Scherer Jeffrey Brandimarto Kenneth Margulies Christine E Moravec Fabiola del Greco M Christian Fuchsberger Jeffrey R O'Connell Wai K Lee Graham C M Watt Harry Campbell Sarah H Wild Nour E El Mokhtari Norbert Frey Folkert W Asselbergs Irene Mateo Leach Gerjan Navis Maarten P van den Berg Dirk J van Veldhuisen Manolis Kellis Bouwe P Krijthe Oscar H Franco Albert Hofman Jan A Kors André G Uitterlinden Jacqueline C M Witteman Lyudmyla Kedenko Claudia Lamina Ben A Oostra Gonçalo R Abecasis Edward G Lakatta Antonella Mulas Marco Orrú David Schlessinger Manuela Uda Marcello R P Markus Uwe Völker Harold Snieder Timothy D Spector Johan Ärnlöv Lars Lind Johan Sundström Ann-Christine Syvänen Mika Kivimaki Mika Kähönen Nina Mononen Olli T Raitakari Jorma S Viikari Vera Adamkova Stefan Kiechl Maria Brion Andrew N Nicolaides Bernhard Paulweber Johannes Haerting Anna F Dominiczak Fredrik Nyberg Peter H Whincup Aroon D Hingorani Jean-Jacques Schott Connie R Bezzina Erik Ingelsson Luigi Ferrucci Paolo Gasparini James F Wilson Igor Rudan Andre Franke Thomas W Mühleisen Peter P Pramstaller Terho J Lehtimäki Andrew D Paterson Afshin Parsa Yongmei Liu Cornelia M van Duijn David S Siscovick Vilmundur Gudnason Yalda Jamshidi Veikko Salomaa Stephan B Felix Serena Sanna Marylyn D Ritchie Bruno H Stricker Kari Stefansson Laurie A Boyer Thomas P Cappola Jesper V Olsen Kasper Lage Peter J Schwartz Stefan Kääb Aravinda Chakravarti Michael J Ackerman Arne Pfeufer Paul I W de Bakker Christopher Newton-Cheh

Nat Genet 2014 Aug 22;46(8):826-36. Epub 2014 Jun 22.

1] Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA. [2] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [3] Harvard Medical School, Boston, Massachusetts, USA. [4] Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts, USA. [5].

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http://dx.doi.org/10.1038/ng.3014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4124521PMC
August 2014

Genetics of long QT syndrome.

Methodist Debakey Cardiovasc J 2014 Jan-Mar;10(1):29-33

Mayo Clinic, Rochester, Minnesota.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4051331PMC
http://dx.doi.org/10.14797/mdcj-10-1-29DOI Listing
February 2015

Personalized medicine: genetic diagnosis for inherited cardiomyopathies/channelopathies.

Rev Esp Cardiol (Engl Ed) 2013 Apr 26;66(4):298-307. Epub 2013 Feb 26.

Departments of Medicine (Division of Cardiovacular Diseases), Pediatrics (Division of Pediatric Cardiology), and Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota, United States.

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http://dx.doi.org/10.1016/j.rec.2012.12.010DOI Listing
April 2013

Is sudden unexplained nocturnal death syndrome in Southern China a cardiac sodium channel dysfunction disorder?

Forensic Sci Int 2014 Mar 7;236:38-45. Epub 2014 Jan 7.

Department of Forensic Pathology, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510080, China. Electronic address:

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http://dx.doi.org/10.1016/j.forsciint.2013.12.033DOI Listing
March 2014

Association of common variants in NOS1AP gene with sudden unexplained nocturnal death syndrome in the southern Chinese Han population.

Int J Legal Med 2014 Nov 7;128(6):933-8. Epub 2014 Feb 7.

Department of Forensic Pathology, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, 510080, China.

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http://dx.doi.org/10.1007/s00414-014-0973-5DOI Listing
November 2014

Confirmation of cause and manner of death via a comprehensive cardiac autopsy including whole exome next-generation sequencing.

Arch Pathol Lab Med 2014 Aug 3;138(8):1083-9. Epub 2013 Dec 3.

From the Mayo Medical School, Rochester, Minnesota (Ms Loporcaro); the Departments of Internal Medicine/Division of Cardiovascular Diseases (Mr Tester and Dr Ackerman), Laboratory Medicine & Pathology, Division of Anatomic Pathology (Dr Maleszewski), Laboratory Medicine & Pathology, Division of Laboratory Genetics (Ms Kruisselbrink), Molecular Pharmacology & Experimental Therapeutics (Dr Ackerman), and Pediatric and Adolescent Medicine/Division of Pediatric Cardiology (Dr Ackerman), and the Windland Smith Rice Sudden Death Genomics Laboratory (Mr Tester and Dr Ackerman), Mayo Clinic, Rochester, Minnesota.

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http://dx.doi.org/10.5858/arpa.2013-0479-SADOI Listing
August 2014

The molecular autopsy: an indispensable step following sudden cardiac death in the young?

Herzschrittmacherther Elektrophysiol 2012 Sep 20;23(3):167-73. Epub 2012 Sep 20.

Mayo Graduate School, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1007/s00399-012-0222-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3852896PMC
September 2012

Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome.

Circ Cardiovasc Genet 2012 Oct 4;5(5):519-28. Epub 2012 Sep 4.

Department of Medicine/Division of Cardiovascular Diseases, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1161/CIRCGENETICS.112.963785DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3705705PMC
October 2012

Drowning.

N Engl J Med 2012 08;367(8):777; author reply 777-8

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http://dx.doi.org/10.1056/NEJMc1207798DOI Listing
August 2012

Repeat long QT syndrome genetic testing of phenotype-positive cases: prevalence and etiology of detection misses.

Heart Rhythm 2012 Dec 8;9(12):1977-82. Epub 2012 Aug 8.

Mayo Medical School, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.1016/j.hrthm.2012.08.010DOI Listing
December 2012

Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death.

Hum Mutat 2012 Jun 27;33(6):989-97. Epub 2012 Mar 27.

Division of Cardiovascular Diseases, Department of Medicine, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1002/humu.22058DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3518919PMC
June 2012

The molecular autopsy: should the evaluation continue after the funeral?

Pediatr Cardiol 2012 Mar 4;33(3):461-70. Epub 2012 Feb 4.

Division of Cardiovascular Diseases, Department of Medicine, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Guggenheim 501, Rochester, MN, USA.

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http://dx.doi.org/10.1007/s00246-012-0160-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3332537PMC
March 2012

LQTS-associated mutation A257G in α1-syntrophin interacts with the intragenic variant P74L to modify its biophysical phenotype.

Cardiogenetics 2011 Oct;1(1)

Division of Cardiovascular Medicine, Department of Medicine, University of Wisconsin, Madison, WI, USA ; Department of Forensic Pathology, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, Guangdong, China.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3852898PMC
http://dx.doi.org/10.4081/cardiogenetics.2011.e13DOI Listing
October 2011

Unexplained drownings and the cardiac channelopathies: a molecular autopsy series.

Mayo Clin Proc 2011 Oct;86(10):941-7

Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.4065/mcp.2011.0373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3184023PMC
October 2011