Carles Costa-Ferrer

Madrid, MD, Spain

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 25 publications

LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation.

LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation.

Journal: Frontiers in genetics

Published: December 31, 2022

Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort.

Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort.

Journal: International journal of legal medicine

Published: October 20, 2022

Discerning the Ambiguous Role of Missense TTN Variants in Inherited Arrhythmogenic Syndromes.

Discerning the Ambiguous Role of Missense TTN Variants in Inherited Arrhythmogenic Syndromes.

Journal: Journal of personalized medicine

Published: January 07, 2022

High-quality RNA improves sensitivity of SARS-CoV-2 detection by colorimetric RT-LAMP.

High-quality RNA improves sensitivity of SARS-CoV-2 detection by colorimetric RT-LAMP.

Journal: Experimental biology and medicine (Maywood, N.J.)

Published: December 14, 2021

Early Identification of Prolonged QT Interval for Prevention of Sudden Infant Death.

Early Identification of Prolonged QT Interval for Prevention of Sudden Infant Death.

Journal: Frontiers in pediatrics

Published: May 03, 2021

Clinical impact of rare variants associated with inherited channelopathies: a 5-year update.

Clinical impact of rare variants associated with inherited channelopathies: a 5-year update.

Journal: Human genetics

Published: March 27, 2021

Rare Variants Associated with Arrhythmogenic Cardiomyopathy: Reclassification Five Years Later.

Rare Variants Associated with Arrhythmogenic Cardiomyopathy: Reclassification Five Years Later.

Journal: Journal of personalized medicine

Published: February 05, 2021

Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.

Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.

Journal: EBioMedicine

Published: January 24, 2020

Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.

Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.

Journal: Journal of clinical medicine

Published: June 08, 2019

Role of genetic and electrolyte abnormalities in prolonged QTc interval and sudden cardiac death in end-stage renal disease patients.

Role of genetic and electrolyte abnormalities in prolonged QTc interval and sudden cardiac death in end-stage renal disease patients.

Journal: PloS one

Published: May 09, 2018

Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP.

Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP.

Journal: PloS one

Published: September 15, 2017

Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice.

Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice.

Journal: European journal of human genetics : EJHG

Published: July 25, 2017

Showing 1-12 of 25

Last Updated: 09/26/2026