Aude Beyens

Dermatologist-like explainable AI enhances trust and confidence in diagnosing melanoma

Tirtha Chanda, Katja Hauser, Sarah Hobelsberger et al. · Nature Communications · 2024 · 151 citations · Full text

Medicine, Dermatology, Oncology +12

A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix

Stylianos Z. Karoulias, Aude Beyens, Zerina Balic et al. · Matrix Biology · 2019 · 49 citations

Life Sciences, Genetics, Pathology +16

Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome

Lore Pottie, Christin S. Adamo, Aude Beyens et al. · The American Journal of Human Genetics · 2021 · 33 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum

Ilse Meerschaut, Aude Beyens, Wouter Steyaert et al. · American Journal of Medical Genetics Part A · 2019 · 29 citations

Life Sciences, Genetics, Molecular Genetics +17

EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis

Christin S. Adamo, Aude Beyens, Alvise Schiavinato et al. · The American Journal of Human Genetics · 2022 · 22 citations · Full text

Medicine, Pathology, Physiology +11