Maria-christina Kotta

Via Pier Lombardo 22
Milan, 20135, Italy

Last Updated: 09/26/2026

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Found 19 publications

Cardiac Genetic Investigation of Sudden Infant and Early Childhood Death: A Study From Victims to Families.

Cardiac Genetic Investigation of Sudden Infant and Early Childhood Death: A Study From Victims to Families.

Journal: Journal of the American Heart Association

Published: August 17, 2023

Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry.

Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry.

Journal: European heart journal

Published: January 18, 2023

Continuous Bayesian variant interpretation accounts for incomplete penetrance among Mendelian cardiac channelopathies.

Continuous Bayesian variant interpretation accounts for incomplete penetrance among Mendelian cardiac channelopathies.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: August 11, 2022

Estimating the Posttest Probability of Long QT Syndrome Diagnosis for Rare KCNH2 Variants.

Estimating the Posttest Probability of Long QT Syndrome Diagnosis for Rare KCNH2 Variants.

Journal: Circulation. Genomic and precision medicine

Published: July 26, 2021

Mutation location and IKs regulation in the arrhythmic risk of long QT syndrome type 1: the importance of the KCNQ1 S6 region.

Mutation location and IKs regulation in the arrhythmic risk of long QT syndrome type 1: the importance of the KCNQ1 S6 region.

Journal: European heart journal

Published: May 26, 2021

Cadherin 2-Related Arrhythmogenic Cardiomyopathy: Prevalence and Clinical Features.

Cadherin 2-Related Arrhythmogenic Cardiomyopathy: Prevalence and Clinical Features.

Journal: Circulation. Genomic and precision medicine

Published: February 10, 2021

Genetics of Peripartum Cardiomyopathy: Current Knowledge, Future Directions and Clinical Implications.

Genetics of Peripartum Cardiomyopathy: Current Knowledge, Future Directions and Clinical Implications.

Journal: Genes

Published: December 18, 2020

Exercise Training-Induced Repolarization Abnormalities Masquerading as Congenital Long QT Syndrome.

Exercise Training-Induced Repolarization Abnormalities Masquerading as Congenital Long QT Syndrome.

Journal: Circulation

Published: October 19, 2020

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

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

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 01, 2020

Abnormal myocardial expression of SAP97 is associated with arrhythmogenic risk.

Abnormal myocardial expression of SAP97 is associated with arrhythmogenic risk.

Journal: American journal of physiology. Heart and circulatory physiology

Published: March 21, 2020

Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry.

Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry.

Journal: European heart journal

Published: October 30, 2018

Calmodulinopathy: Functional Effects of CALM Mutations and Their Relationship With Clinical Phenotypes.

Calmodulinopathy: Functional Effects of CALM Mutations and Their Relationship With Clinical Phenotypes.

Journal: Frontiers in cardiovascular medicine

Published: September 05, 2018

Showing 1-12 of 19

Last Updated: 09/26/2026