John R Giudicessi Selected Research

KCNQ1 Potassium Channel

1/2022	A phenotype-enhanced variant classification framework to decrease the burden of missense variants of uncertain significance in type 1 long QT syndrome.
3/2012	Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner.

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John R Giudicessi Research Topics

Disease

16	Long QT Syndrome 10/2022 - 03/2012
8	Cardiac Sudden Death (Sudden Cardiac Arrest) 10/2022 - 01/2013
6	Cardiac Arrhythmias (Arrythmia) 01/2021 - 01/2012
5	Cardiomyopathies (Cardiomyopathy) 05/2022 - 01/2019
5	Cardiovascular Diseases (Cardiovascular Disease) 01/2022 - 10/2012
4	Syncope (Fainting) 10/2022 - 01/2018
4	Brugada Syndrome 08/2015 - 07/2011
3	Seizures (Absence Seizure) 10/2022 - 01/2021
3	Torsades de Pointes (Torsade de Pointes) 02/2021 - 07/2012
3	Polymorphic catecholergic ventricular tachycardia 01/2020 - 01/2013
2	Cardiotoxicity 07/2021 - 02/2021
2	COVID-19 02/2021 - 01/2020
2	Heart Arrest (Cardiac Arrest) 02/2021 - 11/2020
2	Ventricular Tachycardia 02/2021 - 01/2020
1	Ventricular Fibrillation 05/2022
1	Ventricular Premature Complexes (Premature Ventricular Contraction) 05/2022
1	Lipodystrophy 05/2022
1	Shock 01/2022
1	Dizziness (Lightheadedness) 01/2022
1	Hypoxia (Hypoxemia) 01/2022
1	Acidosis 01/2022
1	Heart Failure 07/2021
1	Vascular Diseases (Vascular Disease) 01/2021
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 10/2020
1	Sudden Death 01/2020
1	Sudden Infant Death (SID) 01/2020
1	Right Ventricular Dysfunction 01/2020
1	Mitral Valve Prolapse 01/2019
1	Syndactyly (Polysyndactyly) 06/2013
1	Short Qt Syndrome 01/2013

Drug/Important Bio-Agent (IBA)

4	Pharmaceutical PreparationsIBA 01/2022 - 01/2020
4	Hydroxychloroquine (Plaquenil)FDA LinkGeneric 01/2022 - 01/2020
4	Proteins (Proteins, Gene)FDA Link 01/2020 - 01/2013
3	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 01/2022 - 01/2019
3	CalciumIBA 01/2018 - 01/2013
2	KCNQ1 Potassium ChannelIBA 01/2022 - 03/2012
2	Azithromycin (Zithromax)FDA LinkGeneric 02/2021 - 09/2013
2	Sodium Channels (Sodium Channel)IBA 10/2020 - 08/2015
2	Potassium Channels (Potassium Channel)IBA 01/2020 - 01/2012
2	triadinIBA 01/2020 - 01/2019
2	Ion Channels (Ion Channel)IBA 01/2018 - 01/2013
1	Sodium Channel BlockersIBA 10/2022
1	Lamin Type A (Lamin A)IBA 05/2022
1	Polyvinyl Chloride (PVC)IBA 05/2022
1	Lidocaine (Xylocaine)FDA LinkGeneric 01/2022
1	Antimalarials (Antimalarial Agents)IBA 02/2021
1	Chloroquine (Aralen)FDA LinkGeneric 02/2021
1	Ventricular MyosinsIBA 10/2020
1	Ritonavir (Norvir)FDA Link 01/2020
1	Lopinavir FDA Link 01/2020
1	FilaminsIBA 01/2019
1	Macromolecular SubstancesIBA 01/2018
1	Semaphorins (Semaphorin)IBA 08/2014
1	Semaphorin-3AIBA 08/2014
1	Calcium Channels (Calcium Channel)IBA 06/2013
1	L-Type Calcium Channels (Dihydropyridine Receptor)IBA 06/2013
1	DNA (Deoxyribonucleic Acid)IBA 10/2012
1	NucleotidesIBA 10/2012
1	Medroxyprogesterone Acetate (Depo-Provera)FDA LinkGeneric 07/2012
1	3' Untranslated Regions (3' UTR)IBA 03/2012
1	Shal Potassium ChannelsIBA 07/2011

Therapy/Procedure

8	Therapeutics 10/2022 - 01/2012
4	Implantable Defibrillators (Implantable Cardioverter-Defibrillator) 10/2022 - 01/2018
1	Sympathectomy (Sympathectomies) 10/2022
1	Precision Medicine 01/2021
1	Drug Therapy (Chemotherapy) 01/2020
1	Personal Protective Equipment 01/2020
1	Genomic Medicine 01/2017