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Articles by Bart Loeys
Genetic yield of targeted diagnostic screening in a large European cohort of 368 thoracic aortic dissection patients
Abstract Thoracic aortic dissection (TAD) is a life-threatening condition with a significant genetic contribution. This study evaluated the clinical implications of diagnostic screening of 368 TAD patients for (likely) pathogenic (LPP) variants in 23 TAD-associated genes and sought to identify genotype-phenotype correlations. Clinically relevant causative variants were identified in 12.5% of patients.
Unsupervised feature extraction using deep learning empowers discovery of genetic determinants of the electrocardiogram - Genome Medicine
The VAE model architecture is displayed graphically in Additional File 1: Fig. S1. The model was trained on 1,048,778 median ECG beats derived from resting 12-lead ECGs of patients examined at the Beth Israel Deaconess Medical Center (BIDMC), a secondary care centre in Boston, USA. Eight leads were analysed—the first two limb leads and six chest leads.
DDX3X-related neurodevelopmental disorder in males – presenting a new cohort of 19 males and a literature review - European Journal of Human Genetics
Abstract DDX3X-related neurodevelopmental disorder is one of the most common monogenic causes of intellectual disability in females, with currently >1000 females diagnosed worldwide. In contrast, reports on affected males with DDX3X variants are scarce. The limited knowledge on this X-linked disorder in males hinders the interpretation of hemizygous DDX3X variants in clinical practice.
Genetic association analysis of 77,539 genomes reveals rare disease etiologies - Nature Medicine
Abstract The genetic etiologies of more than half of rare diseases remain unknown. Standardized genome sequencing and phenotyping of large patient cohorts provide an opportunity for discovering the unknown etiologies, but this depends on efficient and powerful analytical methods. We built a compact database, the ‘Rareservoir’, containing the rare variant genotypes and phenotypes of 77,539 participants sequenced by the 100,000 Genomes Project.
iPSC-Derived Cardiomyocytes in Inherited Cardiac Arrhythmias: Pathomechanistic Discovery and Drug Development
This is an early access version, the complete PDF, HTML, and XML versions will be available soon. Open AccessReview by Eline Simons , Bart Loeys and Maaike Alaerts * Cardiogenetics Research Group, Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, 2650 Antwerp, Belgium * Author to whom correspondence should be addressed.
International Symposium Program
9th International Research Symposium on Marfan Syndrome and Related Disorders September 25-27, 2014 Novotel Paris Vaugirard Montparnasse Paris, France Thursday, September 25, 2014 8:30 a.m. Welcome and Introduction: Catherine Boileau and Guillaume Jondeau 8:45 - 10:00 Session 1: Losartan Trials Worldwide Chairs: Guillaume Jondeau (France) and Hal Dietz (USA) 8:45 - 9:10 Ongoing Global Protocols and Completed Trial Results Timothy Bradley, Toronto, Canada 9:10 a.m. Results of French Trial...
The search for genotype/phenotype correlation in Marfan syndrome: to be or not to be?
This editorial refers to ‘Genotype impacts survival in Marfan syndrome’†, by R. Franken et al., on page 3285.Marfan syndrome (MFS) is an autosomal dominant inherited connective tissue disorder with the main manifestations in the skeletal (overgrowth), ocular (ectopia lentis), and cardiovascular system. The latter include predominantly mitral valve disease (prolapse with or without insufficiency) and aortic aneurysm most prominently at the level of the sinuses of Valvalva.
The search for genotype/phenotype correlation in Marfan syndrome: to be or not to be?
This editorial refers to ‘Genotype impacts survival in Marfan syndrome’, by R. Franken et al. doi:10.1093/eurheartj/ehv739Marfan syndrome (MFS) is an autosomal dominant inherited connective tissue disorder with the main manifestations in the skeletal (overgrowth), ocular (ectopia lentis), and cardiovascular system. The latter include predominantly mitral valve disease (prolapse with or without insufficiency) and aortic aneurysm most prominently at the level of the sinuses of Valvalva.
EFEMP2-Related Cutis Laxa
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FBLN5-Related Cutis Laxa
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