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Researcher
Aude Beyens
Profile
Projects
Publications
Activities
Awards & Distinctions
30
Results
2024
An unexpected high prevalence of Focal Facial Dermal Dysplasia (FFDD) type IV is linked to a founder effect in the Belgian population
Karolien Aelbrecht
Aude Beyens
Sofie De Meulemeester
Koen Devriendt
Marleen Goeteyn
Frank Kooy
Evelyn Meulewaeter
Sofie Symoens
Bert Callewaert
C3
Conference
2024
2023
ATP7A-related copper transport disorders : a systematic review and definition of the clinical subtypes
Silke De Feyter
Aude Beyens
Bert Callewaert
A1
Journal Article
in
JOURNAL OF INHERITED METABOLIC DISEASE
2023
HRAS-related epidermal nevus syndromes : expansion of the spectrum with first branchial arch defects
Aude Beyens
Charlotte Lietaer
Kathleen Claes
Elfride De Baere
Marleen Goeteyn
Bob Lerut
Hannes Syryn
Olivier Vanakker
Joni Van der Meulen
Lieve Vanwalleghem
et al.
A1
Journal Article
in
CLINICAL GENETICS
2023
2022
Bi-allelic loss-of-function variants in LTBP1cause autosomal recessive cutis laxa syndrome
Lore Pottie
Christin S. Adamo
Aude Beyens
Steffen Luetke
Piyanoot Tapaneeyaphan
Adelbert De Clercq
Phil Salmon
Riet De Rycke
Alper Gezdirici
Elif Yilmaz Gulec
et al.
C3
Conference
2022
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis
Christin S. Adamo
Aude Beyens
Alvise Schiavinato
Douglas R. Keene
Sara F. Tufa
Matthias Morgelin
Jurgen Brinckmann
Takako Sasaki
Anja Niehoff
Maren Dreiner
et al.
A1
Journal Article
in
AMERICAN JOURNAL OF HUMAN GENETICS
2022
Identification of codon 146 KRAS variants in isolated epidermal nevus and multiple lesions in oculoectodermal syndrome : confirmation of the phenotypic continuum of mosaic RASopathies
Aude Beyens
Laure Dequeker
Hilde Brems
Sandra Janssens
Hannes Syryn
Anne D’Hooghe
Pascale De Paepe
Lieve Vanwalleghem
Annelies Stockman
Elena Vankwikelberge
et al.
A1
Journal Article
in
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
2022
Major response to adalimumab in patient with Sweet syndrome associated to an acquired cutis laxa
Pieter Rosiers
A. Deroux
Aude Beyens
Bert Callewaert
M.‐T. Leccia
A1
Journal Article
in
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
2022
2021
Arterial tortuosity syndrome : an ascorbate compartmentalization disorder?
Annekatrien Boel
Krisztina Veszelyi
Csilla E. Nemeth
Aude Beyens
Andy Willaert
Paul Coucke
Bert Callewaert
Eva Margittai
A1
Journal Article
in
ANTIOXIDANTS & REDOX SIGNALING
2021
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome
Lore Pottie
Christin S. Adamo
Aude Beyens
Steffen Lütke
Piyanoot Tapaneeyaphan
Adelbert De Clercq
Phil L. Salmon
Riet De Rycke
Alper Gezdirici
Elif Yilmaz Gulec
et al.
A1
Journal Article
in
AMERICAN JOURNAL OF HUMAN GENETICS
2021
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome (vol 108, pg 1095, 2021)
Lore Pottie
Christin S. Adamo
Aude Beyens
Steffen Lutke
Piyanoot Tapaneeyaphan
Adelbert De Clercq
Phil L. Salmon
Riet De Rycke
Alper Gezdirici
Elif Yilmaz Gulec
et al.
Correction
2021
Clinical and molecular delineation of cutis laxa syndromes : paradigms for elastic fiber homeostasis
Aude Beyens
Lore Pottie
Patrick Sips
Bert Callewaert
Bookchapter
in
Progress in Heritable Soft Connective Tissue Diseases
2021
Clinical and molecular delineation of cutis laxa syndromes : paradigms for elastic fiber homeostasis (vol 1348, pg 273, 2021)
Aude Beyens
Lore Pottie
Patrick Sips
Bert Callewaert
Bookchapter
in
Progress in Heritable Soft Connective Tissue Diseases
2021
Cutis laxa : a comprehensive overview of clinical characteristics and pathophysiology
Aude Beyens
Annekatrien Boel
Sofie Symoens
Bert Callewaert
A1
Journal Article
in
CLINICAL GENETICS
2021
Loss-of-function variants in EFEMP1 cause a recognizable connective tissue disorder characterized by cutis laxa and multiple herniations
Maxim Verlee
Aude Beyens
Alper Gezdirici
Elif Gulec
Lore Pottie
Silke De Feyter
Michiel Vanhooydonck
Piyanoot Tapaneeyaphan
Sofie Symoens
Bert Callewaert
A1
Journal Article
in
GENES
2021
Severe congenital cutis laxa : Identification of novel homozygous LOX gene variants in two families
Fiona McKenzie
Kym Mina
Bert Callewaert
Aude Beyens
Jan E. Dickinson
Gareth Jevon
John Papadimitriou
Birgitte Rode Diness
Jesper Norman Steensberg
Jakob Ek
et al.
A1
Journal Article
in
CLINICAL GENETICS
2021
2020
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
Sofie Symoens
Anthony Vandersteen
Andrea L Rideout
John Dickinson
Bert Callewaert
Dirk Hubmacher
A1
Journal Article
in
MATRIX BIOLOGY
2020
Homozygous EMILIN1 loss-of-function variants impair both elastin and collagen fiber formation and cause a novel entity with arterial tortuosity and osteopenia
Aude Beyens
C. Adamo
E. Yilmaz Gulec
A. Gezdirici
P. Bonaldo
H. Bornaun
E. Brauchle
J. Brinckmann
W. P. Devine
B. Gangaram
et al.
C3
Conference
2020
Mutations in LTBP1 cause autosomal recessive cutis laxa syndrome
Lore Pottie
Alper Gezdirici
Christin Adamo
William Newman
Aude Beyens
Riet De Rycke
Adelbert De Clercq
Patrick Sips
Gerhard Sengle
Bert Callewaert
C3
Conference
2020
Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects
Annekatrien Boel
Joyce Burger
Marine Vanhomwegen
Aude Beyens
Marjolijn Renard
Sander Barnhoorn
Christophe Casteleyn
Dieter Reinhardt
Benedicte Descamps
Christian Vanhove
et al.
A1
Journal Article
in
HUMAN MOLECULAR GENETICS
2020
2019
ATP6V0A2-related cutis laxa in 10 novel patients : focus on clinical variability and expansion of the phenotype
Aude Beyens
Ester Moreno-Artero
Christine Bodemer
Helen Cox
Alper Gezdirici
Elif Yilmaz Gulec
Najoua Kahloul
Philippe Khau Van Kien
Gonul Ogur
Annie Harroche
et al.
A1
Journal Article
in
EXPERIMENTAL DERMATOLOGY
2019
Arterial tortuosity syndrome : 40 new families and literature review (vol 20, pg 1236, 2017)
Aude Beyens
Juliette Albuisson
Annekatrien Boel
Mazen Al-Essa
Waheed Al-Manea
Damien Bonnet
Ozlem Bostan
Odile Boute
Tiffany Busa
Nathalie Canham
et al.
Correction
2019
Defining the clinical, molecular and ultrastructural characteristics in occipital horn syndrome : two new cases and review of the literature
Aude Beyens
Kyaran Van Meensel
Lore Pottie
Riet De Rycke
Michiel De Bruyne
Femke Baeke
Piet Hoebeke
Frank Plasschaert
Bart Loeys
Sofie De Schepper
et al.
A1
Journal Article
in
GENES
2019
Myhre syndrome : a first familial recurrence and broadening of the phenotypic spectrum
Ilse Meerschaut
Aude Beyens
Wouter Steyaert
Riet De Rycke
Katrien Bonte
Tine De Backer
Sandra Janssens
Joseph Panzer
Frank Plasschaert
Daniël De Wolf
et al.
A1
Journal Article
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2019
Two novel probands with Myhre syndrome identified through WES
Ilse Meerschaut
Aude Beyens
Wouter Steyaert
Riet De Rycke
Björn Menten
Katrien Bonte
Tine De Backer
Sandra Janssens
Fransiska Malfait
Joseph Panzer
et al.
C3
Conference
2019
2018
Arterial tortuosity syndrome : 40 new families and literature review
Aude Beyens
Juliette Albuisson
Annekatrien Boel
Mazen Al-Essa
Waheed Al-Manea
Damien Bonnet
Ozlem Bostan
Odile Boute
Tiffany Busa
Nathalie Canham
et al.
A1
Journal Article
in
GENETICS IN MEDICINE
2018
Clinicopathological findings in cutis laxa syndromes
Aude Beyens
Sofie De Schepper
Bert Callewaert
C3
Conference
2018
Ultrastructural elastic fiber morphology in cutis laxa reflects the underlying pathogenesis and supports a novel clinical classification
Aude Beyens
Riet De Rycke
Hannes Syryn
Björn Fischer-Zirnsak
Tim Van Damme
Ingrid Hausser
Michiel De Bruyne
Manrico Morroni
S Nampoothiri
K. Mahesh
et al.
C3
Conference
2018
2017
Arterial tortuosity syndrome : 37 new families and literature review
Aude Beyens
Juliette Albuisson
T Busa
N Canham
JM Chopin
M Dasouki
K Devriendt
H Dietz
Björn Fischer-Zirnsak
Alper Gezdirici
et al.
C3
Conference
2017
Arterial tortuosity syndrome : 40 new families and literature review
Aude Beyens
Juliette Albuisson
Annekatrien Boel
Mazen Al-Essa
Damien Bonnet
O Bostan
Odile Boute
T Busa
N Canham
Ergun Cil
et al.
C3
Conference
2017
2016
Arterial tortuosity syndrome : 29 novel families
Aude Beyens
Juliette Albuisson
T Busa
N Canham
JM C
M. Dasouki
K Devriendt
H Dietz
Björn Fischer-Zirnsak
Alper Gezdirici
et al.
C3
Conference
2016