John R Giudicessi

John R Giudicessi

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John R Giudicessi

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Established Loss-of-Function Variants in -Encoded Ankyrin-B Rarely Cause A Concerning Cardiac Phenotype in Humans.

Circ Genom Precis Med 2020 Mar 12. Epub 2020 Mar 12.

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

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http://dx.doi.org/10.1161/CIRCGEN.119.002851DOI Listing
March 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 Mar 13. Epub 2020 Mar 13.

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

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http://dx.doi.org/10.1161/CIRCGEN.119.002731DOI Listing
March 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 Feb 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

An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition.

Circulation 2020 Feb 16;141(6):429-439. Epub 2020 Jan 16.

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

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http://dx.doi.org/10.1161/CIRCULATIONAHA.119.043114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7035205PMC
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 Feb 10. 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
February 2020

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

Circulation 2020 Feb 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

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

Europace 2020 Feb 24. Epub 2020 Feb 24.

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
February 2020

Exercise testing oversights underlie missed and delayed diagnosis of catecholaminergic polymorphic ventricular tachycardia in young sudden cardiac arrest survivors.

Heart Rhythm 2019 Aug 11;16(8):1232-1239. Epub 2019 Feb 11.

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; Windland Smith Rice Sudden Death Genomics Laboratory, Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, Minnesota. Electronic address:

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http://dx.doi.org/10.1016/j.hrthm.2019.02.012DOI Listing
August 2019

Findings of Uncertain Significance and a Family History of Sudden Death: Worth the FUSs?

J Am Coll Cardiol 2019 Aug;74(6):771-773

Department of Cardiovascular Medicine, Clinician-Investigator Training Program, Mayo Clinic, Rochester, Minnesota.

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http://dx.doi.org/10.1016/j.jacc.2019.06.042DOI Listing
August 2019

Pediatric-Onset Arrhythmogenic Cardiomyopathy: Look Right, Look Left, Look Both Ways.

J Am Coll Cardiol 2019 Jul;74(3):359-361

Department of Cardiovascular Medicine, Clinician-Investigator Training Program, Mayo Clinic, Rochester, Minnesota.

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http://dx.doi.org/10.1016/j.jacc.2019.05.023DOI Listing
July 2019

The QT Interval.

Circulation 2019 06 10;139(24):2711-2713. Epub 2019 Jun 10.

Department of Cardiovascular Medicine, Division of Heart Rhythm Services (P.A.N., M.J.A.), Mayo Clinic, Rochester, MN.

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http://dx.doi.org/10.1161/CIRCULATIONAHA.119.039598DOI Listing
June 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

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

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

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

Prevalence and clinical phenotype of concomitant long QT syndrome and arrhythmogenic bileaflet mitral valve prolapse.

Int J Cardiol 2019 Jan 11;274:175-178. Epub 2018 Sep 11.

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

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http://dx.doi.org/10.1016/j.ijcard.2018.09.046DOI Listing
January 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

Role of genetic heart disease in sentinel sudden cardiac arrest survivors across the age spectrum.

Int J Cardiol 2018 Nov 30;270:214-220. Epub 2018 May 30.

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

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http://dx.doi.org/10.1016/j.ijcard.2018.05.100DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6364980PMC
November 2018

The genetic architecture of long QT syndrome: A critical reappraisal.

Trends Cardiovasc Med 2018 10 30;28(7):453-464. Epub 2018 Mar 30.

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, MN, United States. Electronic address:

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http://dx.doi.org/10.1016/j.tcm.2018.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6590899PMC
October 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

Classification and Reporting of Potentially Proarrhythmic Common Genetic Variation in Long QT Syndrome Genetic Testing.

Circulation 2018 02;137(6):619-630

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

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http://dx.doi.org/10.1161/CIRCULATIONAHA.117.030142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6383807PMC
February 2018

Machine Learning and Rare Variant Adjudication in Type 1 Long QT Syndrome.

Circ Cardiovasc Genet 2017 10;10(5)

From the Departments of Cardiovascular Medicine and Internal Medicine (Clinician-Investigator Training Program), Mayo Clinic, Rochester, MN.

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http://dx.doi.org/10.1161/CIRCGENETICS.117.001944DOI Listing
October 2017

Precision Cardiovascular Medicine: State of Genetic Testing.

Mayo Clin Proc 2017 04;92(4):642-662

Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN; Division of Heart Rhythm Services, Mayo Clinic, Rochester, MN; Department of Pediatric and Adolescent Medicine, Division of Pediatric Cardiology, Mayo Clinic, Rochester, MN; Department of Molecular Pharmacology and 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.mayocp.2017.01.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6364981PMC
April 2017

Post-Mortem Cardiovascular Implantable Electronic Device Interrogation: Clinical Indications and Potential Benefits.

J Am Coll Cardiol 2016 09;68(12):1265-7

Department of Internal Medicine (Internal Medicine Residency and Clinician-Investigator Training Programs), Mayo Clinic, Rochester, Minnesota.

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http://dx.doi.org/10.1016/j.jacc.2016.07.720DOI Listing
September 2016

Calcium Revisited: New Insights Into the Molecular Basis of Long-QT Syndrome.

Circ Arrhythm Electrophysiol 2016 07;9(7)

From the Internal Medicine Residency and Clinician-Investigator Programs, Department of Medicine (J.R.G.) and Departments of Cardiovascular Diseases, Pediatrics (Division of Pediatric Cardiology), and Molecular Pharmacology & Experimental Therapeutics (M.J.A.), Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN.

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http://dx.doi.org/10.1161/CIRCEP.116.002480DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6364983PMC
July 2016

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

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

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

Azithromycin and risk of sudden cardiac death: guilty as charged or falsely accused?

Cleve Clin J Med 2013 Sep;80(9):539-44

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

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http://dx.doi.org/10.3949/ccjm.80a.13077DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3906667PMC
September 2013

Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity.

Circ Cardiovasc Genet 2013 Apr 7;6(2):193-200. Epub 2013 Feb 7.

Mayo Medical School and Mayo Graduate School, MN, USA.

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http://dx.doi.org/10.1161/CIRCGENETICS.112.964684DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3683572PMC
April 2013

Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes.

Transl Res 2013 Jan 17;161(1):1-14. Epub 2012 Sep 17.

Mayo Graduate and Medical Schools, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1016/j.trsl.2012.08.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3624763PMC
January 2013

Genetic testing in heritable cardiac arrhythmia syndromes: differentiating pathogenic mutations from background genetic noise.

Curr Opin Cardiol 2013 Jan;28(1):63-71

Mayo Medical School and Mayo Graduate School, Mayo Clinic, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.1097/HCO.0b013e32835b0a41DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3705648PMC
January 2013

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

Potential depot medroxyprogesterone acetate-triggered torsades de pointes in a case of congenital type 2 long QT syndrome.

Heart Rhythm 2012 Jul 7;9(7):1143-7. Epub 2012 Feb 7.

Department of Medicine, Division of Cardiovascular Diseases, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.1016/j.hrthm.2012.02.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3381867PMC
July 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

Potassium-channel mutations and cardiac arrhythmias--diagnosis and therapy.

Nat Rev Cardiol 2012 Jan 31;9(6):319-32. Epub 2012 Jan 31.

Mayo Medical School, Mitchell Student Center BA-07, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1038/nrcardio.2012.3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6590894PMC
January 2012

Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome.

Heart Rhythm 2011 Jul 22;8(7):1024-32. Epub 2011 Feb 22.

Department of Medicine (Division of Cardiovascular Diseases), Department of Pediatrics (Division of Pediatric Cardiology), and Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota, USA.

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http://dx.doi.org/10.1016/j.hrthm.2011.02.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3150551PMC
July 2011