Search Results - "Sieliwonczyk, Ewa"
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Improved selection of zebrafish CRISPR editing by early next-generation sequencing based genotyping
Published in Scientific reports (27-01-2023)“…Despite numerous prior attempts to improve knock-in (KI) efficiency, the introduction of precise base pair substitutions by the CRISPR-Cas9 technique in…”
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Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population
Published in Orphanet journal of rare diseases (31-01-2023)“…The c.1124_1127delTTCA p.(Ile375Argfs*43) pathogenic variant is the most frequently identified molecular defect in the KCNQ1 gene in the cardiogenetics clinic…”
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Artificial intelligence-enhanced electrocardiography derived body mass index as a predictor of future cardiometabolic disease
Published in NPJ digital medicine (25-06-2024)“…The electrocardiogram (ECG) can capture obesity-related cardiac changes. Artificial intelligence-enhanced ECG (AI-ECG) can identify subclinical disease. We…”
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Optical Mapping in hiPSC-CM and Zebrafish to Resolve Cardiac Arrhythmias
Published in Hearts (Basel, Switzerland) (21-12-2020)“…Inherited cardiac arrhythmias contribute substantially to sudden cardiac death in the young. The underlying pathophysiology remains incompletely understood…”
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Compound Heterozygous SCN5A Mutations in Severe Sodium Channelopathy With Brugada Syndrome: A Case Report
Published in Frontiers in cardiovascular medicine (24-07-2020)“…Aims: Brugada syndrome (BrS) is an inherited cardiac arrhythmia with an increased risk for sudden cardiac death (SCD). About 20% of BrS cases are explained by…”
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Morpho-functional comparison of differentiation protocols to create iPSC-derived cardiomyocytes
Published in Biology open (15-02-2022)“…Cardiomyocytes derived from induced pluripotent stem cells (iPSC-CMs) offer an attractive platform for cardiovascular research. Patient-specific iPSC-CMs are…”
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Abstract 4137169: Artificial Intelligence-Enabled Electrocardiography For The Prediction of Future Type 2 Diabetes Mellitus
Published in Circulation (New York, N.Y.) (12-11-2024)“…Abstract only Background: Undiagnosed diabetes and prediabetes present a significant global health challenge. Artificial Intelligence-enabled…”
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Sex-specific Genetic Determinants of Right Ventricular Structure and Function
Published in American journal of respiratory and critical care medicine (07-10-2024)“…While sex differences in right heart phenotypes have been observed, the molecular drivers remain unknown. To provide biological insights into sex differences…”
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PO-03-008 ARTIFICIAL INTELLIGENCE-ENHANCED ELECTROCARDIOGRAPHY IDENTIFIES FEMALE-SPECIFIC ELEVATED CARDIOVASCULAR RISK PROFILE
Published in Heart rhythm (01-05-2024)Get full text
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Prognostic Significance and Associations of Neural Network–Derived Electrocardiographic Features
Published in Circulation Cardiovascular quality and outcomes (14-11-2024)“…BACKGROUND: Subtle, prognostically important ECG features may not be apparent to physicians. In the course of supervised machine learning, thousands of ECG…”
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Headache in a patient with polycythemia
Published in Acta clinica belgica (English ed. Online) (01-01-2016)“…Myeloprolipherative neoplasms (MPN) are rare conditions with an annual incidence of approximately 5.4/100 000. The main classic MPN are polycythemia vera (PV),…”
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Clinical characterization of the first Belgian SCN5A founder mutation cohort
Published in Europace (London, England) (07-06-2021)“…Abstract Aims We identified the first Belgian SCN5A founder mutation, c.4813 + 3_4813 + 6dupGGGT. To describe the clinical spectrum and disease severity…”
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Inherited Ventricular Arrhythmia in Zebrafish: Genetic Models and Phenotyping Tools
Published in Reviews of physiology, biochemistry and pharmacology (2023)“…In the last years, the field of inheritable ventricular arrhythmia disease modelling has changed significantly with a push towards the use of novel cellular…”
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Molecular autopsy and subsequent functional analysis reveal de novo DSG2 mutation as cause of sudden death
Published in European journal of medical genetics (01-11-2021)“…Sudden cardiac death (SCD) is a common cause of death in young adults. In up to 80% of cases a genetic cause is suspected. Next-generation sequencing of…”
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MP-470543-005 UNSUPERVISED ECG FEATURE EXTRACTION USING DEEP LEARNING EMPOWERS DISCOVERY OF GENETIC DETERMINANTS OF CARDIAC ELECTROPHYSIOLOGY
Published in Heart rhythm (01-05-2024)Get full text
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Artificial intelligence-enabled electrocardiogram for mortality and cardiovascular risk estimation: a model development and validation study
Published in The Lancet. Digital health (01-11-2024)“…Artificial intelligence (AI)-enabled electrocardiography (ECG) can be used to predict risk of future disease and mortality but has not yet been adopted into…”
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Decline in kidney function in a patient with elevated auto-antibody titres and a rare haematological disorder
Published in Acta clinica belgica (English ed. Online) (01-01-2016)“…T-cell leukemia with large granular lymphocytes (T-LGL) is a chronic lymphoproliferative disorder with a good prognosis. It is caused by an accumulation of…”
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26 - Mapping of Cardiac Action Potentials in Zebrafish to Assess Genetic Variants
Published in Zipes and Jalife's Cardiac Electrophysiology (2022)“…Next-generation sequencing technologies have accelerated molecular diagnosis for inherited cardiac arrhythmias. However, we are confronted with the sobering…”
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Mapping of Cardiac Action Potentials in Zebrafish to Assess Genetic Variants
Published in Zipes and Jalife’s Cardiac Electrophysiology: From Cell to Bedside (01-01-2022)Get full text
Book Chapter