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Bart Loeys

As seen in: Nature, MDPI, Genome Medicine, The European Heart Journal
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Articles

Genetic yield of targeted diagnostic screening in a large European cohort of 368 thoracic aortic dissection patients

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By Alice Krebsová, Veronika Zoubková, Steven Laga, Bernhard Gerber, Halil Yildiz, Erik Fransen, Nele Boeckx, Maaike Alaerts, Marlies Kempers, Lut Van Laer, Bart Loeys, Aline Verstraeten, Joe Davis Velchev, Pavel Votýpka, Bram J. Amsel, Antoon Wildiers, Anton Verrijcken, Josephina A. N. Meester, Marsha Voorendt
| Nature Verified
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.
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Unsupervised feature extraction using deep learning empowers discovery of genetic determinants of the electrocardiogram - Genome Medicine

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By Fu Siong, Harefield Hospitals, Ewa Sieliwonczyk, Arunashis Sau, Konstantinos Patlatzoglou, Kathryn A. McGurk, Libor Pastika, Prisca K. Thami, Massimo Mangino, Sean L. Zheng, George Powell, Lara Curran, Rachel Buchan, Pantazis I. Theotokis, Nicholas Peters, Bart Loeys, Daniel Kram
| Genome Medicine Verified
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.
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DDX3X-related neurodevelopmental disorder in males – presenting a new cohort of 19 males and a literature review - European Journal of Human Genetics

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By Charlotte W. Ockeloen, Jeroen Smits, Bart Loeys
| Nature Verified
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.
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