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Medical students' attitude towards artificial intelligence: a multicentre survey

European radiology, 2019-04, Vol.29 (4), p.1640-1646

2019

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Infantile restrictive cardiomyopathy: cTnI-R170G/W impair the interplay of sarcomeric proteins and the integrity of thin filaments

PloS one, 2020-03, Vol.15 (3), p.e0229227-e0229227

2020

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Mendelian randomization evaluation of causal effects of fibrinogen on incident coronary heart disease

PloS one, 2019-05, Vol.14 (5), p.e0216222

2019

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NGS analysis in Marfan syndrome spectrum: Combination of rare and common genetic variants to improve genotype-phenotype correlation analysis

PloS one, 2019-09, Vol.14 (9), p.e0222506-e0222506

2019

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Workflow-centred open-source fully automated lung volumetry in chest CT

Clinical radiology, 2020-01, Vol.75 (1), p.78.e1-78.e7

2020

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Amyloid fibril composition type is consistent over time in patients with Val30Met (p.Val50Met) transthyretin amyloidosis

PloS one, 2022-03, Vol.17 (3), p.e0266092-e0266092

2022

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Left ventricular structural and functional changes in Friedreich ataxia - Relationship with body size, sex, age and genetic severity

PloS one, 2019-11, Vol.14 (11), p.e0225147-e0225147

2019

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Heart failure after pressure overload in autosomal-dominant desminopathies: Lessons from heterozygous DES-p.R349P knock-in mice

PloS one, 2020-03, Vol.15 (3), p.e0228913-e0228913

2020

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SVAD: A genetic database curates non-ischemic sudden cardiac death-associated variants

PloS one, 2020-08, Vol.15 (8), p.e0237731-e0237731

2020

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Insights Into Genetics and Pathophysiology of Arrhythmogenic Cardiomyopathy

Current heart failure reports, 2021-12, Vol.18 (6), p.378-390

2021

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Genetic Animal Models for Arrhythmogenic Cardiomyopathy

Frontiers in physiology, 2020-06, Vol.11, p.624-624

2020

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Genetic Insights into Primary Restrictive Cardiomyopathy

Journal of clinical medicine, 2022-04, Vol.11 (8), p.2094

2022

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Molecular insights into cardiomyopathies associated with desmin (DES) mutations

Biophysical reviews, 2018-08, Vol.10 (4), p.983-1006

2018

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Functional studies can contribute to predict the pathogenicity of a novel mutation for cardiomyopathy

Journal of molecular and cellular cardiology, 2017-08, Vol.109, p.57-57

2017

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Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies

International journal of molecular sciences, 2019-09, Vol.20 (18), p.4381

2019

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The N-Terminal Part of the 1A Domain of Desmin Is a Hot Spot Region for Putative Pathogenic DES Mutations Affecting Filament Assembly

Cells (Basel, Switzerland), 2022-12, Vol.11 (23), p.3906

2022

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Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia

Circulation (New York, N.Y.), 2018-04, Vol.137 (15), p.1595-1610

2018

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End-to-End Prediction of Lightning Events from Geostationary Satellite Images

Remote sensing (Basel, Switzerland), 2022-08, Vol.14 (15), p.3760

2022

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Practical applications of deep learning: classifying the most common categories of plain radiographs in a PACS using a neural network

European radiology, 2021-04, Vol.31 (4), p.1812-1818

2021

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Altered Expression of TMEM43 Causes Abnormal Cardiac Structure and Function in Zebrafish

International journal of molecular sciences, 2022-08, Vol.23 (17), p.9530

2022

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Transgenic mice overexpressing desmocollin-2 (DSC2) develop cardiomyopathy associated with myocardial inflammation and fibrotic remodeling

PloS one, 2017-03, Vol.12 (3), p.e0174019-e0174019

2017

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Screening for mutations in human cardiomyopathy- is RBM24 a new but rare disease gene?

Protein & cell, 2019-06, Vol.10 (6), p.393-394

2019

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Cardiomyopathy‐associated mutations in the RS domain affect nuclear localization of RBM20

Human mutation, 2020-11, Vol.41 (11), p.1931-1943

2020

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Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin ( DES ) Mutation p.Y122H Leading to a Severe Filament Assembly Defect

Genes, 2019-11, Vol.10 (11), p.918

2019

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Identification of novel N-terminal splice variants in the DCM-associated gene RBM20

CARDIOVASCULAR RESEARCH, 2022-06, Vol.118 (Supplement_1)

2022

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Medical students' attitude towards artificial intelligence: a multicentre survey

Infantile restrictive cardiomyopathy: cTnI-R170G/W impair the interplay of sarcomeric proteins and the integrity of thin filaments

Mendelian randomization evaluation of causal effects of fibrinogen on incident coronary heart disease

NGS analysis in Marfan syndrome spectrum: Combination of rare and common genetic variants to improve genotype-phenotype correlation analysis

Workflow-centred open-source fully automated lung volumetry in chest CT

Amyloid fibril composition type is consistent over time in patients with Val30Met (p.Val50Met) transthyretin amyloidosis

Left ventricular structural and functional changes in Friedreich ataxia - Relationship with body size, sex, age and genetic severity

Heart failure after pressure overload in autosomal-dominant desminopathies: Lessons from heterozygous DES-p.R349P knock-in mice

SVAD: A genetic database curates non-ischemic sudden cardiac death-associated variants

Insights Into Genetics and Pathophysiology of Arrhythmogenic Cardiomyopathy

Genetic Animal Models for Arrhythmogenic Cardiomyopathy

Genetic Insights into Primary Restrictive Cardiomyopathy

Molecular insights into cardiomyopathies associated with desmin (DES) mutations

Functional studies can contribute to predict the pathogenicity of a novel mutation for cardiomyopathy

Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies

The N-Terminal Part of the 1A Domain of Desmin Is a Hot Spot Region for Putative Pathogenic DES Mutations Affecting Filament Assembly

Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia

End-to-End Prediction of Lightning Events from Geostationary Satellite Images

Practical applications of deep learning: classifying the most common categories of plain radiographs in a PACS using a neural network

Altered Expression of TMEM43 Causes Abnormal Cardiac Structure and Function in Zebrafish

Transgenic mice overexpressing desmocollin-2 (DSC2) develop cardiomyopathy associated with myocardial inflammation and fibrotic remodeling

Screening for mutations in human cardiomyopathy- is RBM24 a new but rare disease gene?

Cardiomyopathy‐associated mutations in the RS domain affect nuclear localization of RBM20

Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin ( DES ) Mutation p.Y122H Leading to a Severe Filament Assembly Defect

Identification of novel N-terminal splice variants in the DCM-associated gene RBM20

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