Aude Beyens

Journal Article
A1
open access

Classifying novel DSG1 variants on disease severity in SAM syndrome and palmoplantar keratoderma

Vanya S.V.J. Rossel, Jaap J.A.J. van der Velden, Renske Janssen, Bert Callewaert (UGent) , Aude Beyens (UGent) , Fanny Morice-Picar, Maaike Vreeburg, Peter C. van den Akker, Saskia M. Maas, Gilles F.H. Diercks, et al.

(2026) JOURNAL OF DERMATOLOGICAL SCIENCE. 121(3). p.22-31

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Miscellaneous

Myhre syndrome in adulthood : clinical variability and emerging genotype-phenotype correlations ( vol 32, pg 1086, 2024)

Eva Vanbelleghem (UGent) , Tim Van Damme (UGent) , Aude Beyens (UGent) , Sofie Symoens (UGent) , Kathleen Claes (UGent) , Julie De Backer (UGent) , Ilse Meerschaut, Floris Vanommeslaeghe (UGent) , Sigurd Delanghe (UGent) , Jenneke van den Ende, et al.

(2026) EUROPEAN JOURNAL OF HUMAN GENETICS.

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Journal Article
A2
open access

Complex management of high-flow gastrointestinal arteriovenous malformation with chronic portomesenteric thrombosis in PTEN hamartoma tumor syndrome

Katrien De Looze, Kymentie Ferdinande (UGent) , Laurence Levrau, Uri Singfer, LUIS ABREU DE CARVALHO (UGent) , Anna Vantilborgh (UGent) , Margot Callens (UGent) , Aude Beyens (UGent) , Anne Hoorens (UGent) , Anja Geerts (UGent) , et al.

(2026) ACG CASE REPORTS JOURNAL. 13(1).

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Journal Article
A1
open access

REACT-PXE : a consensus on diagnosis and future research concerning pseudoxanthoma elasticum (PXE)

L. Martin, W. Spiering, Karolien Aelbrecht (UGent) , T. Aranyi, C. Duranton, N. Kiss, E. Letavernier, M. Medvecz, M. Pfau, P.I. Nevalainen, et al.

(2026) ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE. 153(1).

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Journal Article
A2
open access

Autosomal recessive cutis laxa type 1C with LTBP4 mutation : unmasking an exceptional case in the Indian subcontinent

Dharitree Senapati, Vibhu Mendiratta, Bert Callewaert (UGent) , Kiran Agarwal, Md Ali Osama, Aude Beyens (UGent) and Sofie Symoens (UGent)

(2025) INDIAN DERMATOLOGY ONLINE JOURNAL. 16(6). p.969-972

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Arterial tortuosity syndrome : a longitudinal assessment of cardiovascular features and interventions from the collaborative for longitudinal aortic research in the young (CLARITY)

Bita Salamat, Sara B. Stephens, Jolie J. Britt, Taylor Beecroft-Dawson, Andrea Taylor, Laura Muiño Mosquera (UGent) , Bert Callewaert (UGent) , Aude Beyens (UGent) , Alexandra Channing, Michael P. Dilorenzo, et al.

(2025) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 197(11).

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Journal Article
A1
open access

Dermatologist-like explainable AI enhances melanoma diagnosis accuracy : eye-tracking study

Tirtha Chanda, Sarah Haggenmueller, Tabea-Clara Bucher, Tim Holland-Letz, Harald Kittler, Philipp Tschandl, Markus V. Heppt, Carola Berking, Jochen S. Utikal, Bastian Schilling, et al.

(2025) NATURE COMMUNICATIONS. 16(1).

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Tissue-specific 3D genome and splicing signatures of clinically accessible tissues inform sample selection for assessing the impact of genomic aberrations in neurodevelopmental disorders

Michael B Vaughan (UGent) , Lara Colombo (UGent) , Esperanza Daal (UGent) , Aude Beyens (UGent) , Eva Vanbelleghem (UGent) , Robbe Derudder (UGent) , Sebastian Leimbacher (UGent) , Eva D'haene (UGent) , Bert Callewaert (UGent) and Sarah Vergult (UGent)

(2025) Neurogenomics Conference 2025, Abstracts.

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Journal Article
A1
open access

Cracking rare disorders : a new minimally invasive RNA-seq protocol

Laurenz De Cock, Erika D'haenens (UGent) , Lies Vantomme (UGent) , Lynn Backers, Aude Beyens (UGent) , Kathleen Claes (UGent) , Griet De Clercq (UGent) , Robin de Putter (UGent) , Candy Kumps (UGent) , Nika Schuermans (UGent) , et al.

(2025) NPJ GENOMIC MEDICINE. 10(1).

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PhD Thesis

Study of monogenic cutis laxa syndromes : paradigms for elastic fiber homeostasis

Aude Beyens (UGent)

(2025)

Academic Bibliography

Aude Beyens

Classifying novel DSG1 variants on disease severity in SAM syndrome and palmoplantar keratoderma

Myhre syndrome in adulthood : clinical variability and emerging genotype-phenotype correlations ( vol 32, pg 1086, 2024)

Complex management of high-flow gastrointestinal arteriovenous malformation with chronic portomesenteric thrombosis in PTEN hamartoma tumor syndrome

REACT-PXE : a consensus on diagnosis and future research concerning pseudoxanthoma elasticum (PXE)

Autosomal recessive cutis laxa type 1C with LTBP4 mutation : unmasking an exceptional case in the Indian subcontinent

Arterial tortuosity syndrome : a longitudinal assessment of cardiovascular features and interventions from the collaborative for longitudinal aortic research in the young (CLARITY)

Dermatologist-like explainable AI enhances melanoma diagnosis accuracy : eye-tracking study

Tissue-specific 3D genome and splicing signatures of clinically accessible tissues inform sample selection for assessing the impact of genomic aberrations in neurodevelopmental disorders

Cracking rare disorders : a new minimally invasive RNA-seq protocol

Study of monogenic cutis laxa syndromes : paradigms for elastic fiber homeostasis

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