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Researcher
Paul Coucke
Profile
Projects
Publications
Activities
318
Results
2022
Clinical and subclinical findings in heterozygous ABCC6 carriers : results from a Belgian cohort and clinical practice guidelines
Lukas Nollet
Laurence Campens
Julie De Zaeytijd
Bart Leroy
Dimitri Hemelsoet
Paul Coucke
Olivier Vanakker
A1
Journal Article
in
JOURNAL OF MEDICAL GENETICS
2022
Exploring the mutational landscape of isolated congenital heart defects : an exome sequencing study using cardiac DNA
Ilse Meerschaut
Wouter Steyaert
Thierry Bové
Katrien Francois
Katya De Groote
Joseph Panzer
Kristof Vandekerckhove
Petra Vermassen
Sofie Symoens
Paul Coucke
Daniël De Wolf
Bert Callewaert
A1
Journal Article
in
GENES
2022
Human germline nuclear transfer to overcome mitochondrial disease and failed fertilization after ICSI
Maoxing Tang
Annekatrien Boel
Noemi Castelluccio
Arantxa Cardona Barberán
Antonia Christodoulaki
Bieke Bekaert
Mina Popovic
Frauke Vanden Meerschaut
Petra De Sutter
Björn Menten
Sofie Symoens
Arnaud Vanlander
Dominic Stoop
Paul Coucke
Björn Heindryckx
A1
Journal Article
in
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
2022
Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)
Nika Schuermans
Dimitri Hemelsoet
Sanne Steyaert
Rudy Van Coster
Paul Coucke
Bert Callewaert
Elke Bogaert
Arnaud Vanlander
Elke Debackere
Jody Ghijsels
Pontus LeBlanc
Hannah Verdin
Leslie Naesens
Filomeen Haerynck
Steven Callens
Bart Dermaut
Bruce Poppe
Jan De Bleecker
Patrick Santens
Paul Boon
Guy Laureys
Tessa Kerre
A1
Journal Article
in
ORPHANET JOURNAL OF RARE DISEASES
2022
TEAD4 regulates trophectoderm differentiation upstream of CDX2 in a GATA3-independent manner in the human preimplantation embryo
Panagiotis Stamatiadis
Gwenny Cosemans
Annekatrien Boel
Björn Menten
Petra De Sutter
Dominic Stoop
Susana Marina Chuva de Sousa Lopes
Paul Coucke
Björn Heindryckx
A1
Journal Article
in
HUMAN REPRODUCTION
2022
2021
A reassessment of copy number variations in congenital heart defects : picturing the whole genome
Ilse Meerschaut
Sarah Vergult
Annelies Dheedene
Björn Menten
Katya De Groote
Joseph Panzer
Kristof Vandekerckhove
Paul Coucke
Daniël De Wolf
Bert Callewaert
A1
Journal Article
in
GENES
2021
Arterial tortuosity syndrome : an ascorbate compartmentalization disorder?
Annekatrien Boel
Aude Beyens
Andy Willaert
Paul Coucke
Bert Callewaert
A1
Journal Article
in
ANTIOXIDANTS & REDOX SIGNALING
2021
Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta
Brecht Guillemyn
Fransiska Malfait
Sofie Symoens
Paul Coucke
A2
Journal Article
in
HUMAN GENETICS AND GENOMICS ADVANCES
2021
CRISPR-SID : identifying EZH2 as a druggable target for desmoid tumors via in vivo dependency mapping
Thomas Naert
Dieter Tulkens
Tom Van Nieuwenhuysen
Suzan Demuynck
Paul Coucke
Kim De Leeneer
Christian Vanhove
Savvas Savvides
David Creytens
Kris Vleminckx
A1
Journal Article
in
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
2021
Comparative analysis of mouse and human preimplantation development following POU5F1 CRISPR/Cas9 targeting reveals interspecies differences
Panagiotis Stamatiadis
Annekatrien Boel
Gwenny Cosemans
Mina Popovic
Bieke Bekaert
Ramesh Guggilla
Maoxing Tang
Petra De Sutter
Filip Van Nieuwerburgh
Björn Menten
Dominic Stoop
Susana Marina Chuva de Sousa Lopes
Paul Coucke
Björn Heindryckx
A1
Journal Article
in
HUMAN REPRODUCTION
2021
Comprehensive validation of a diagnostic strategy for sequencing genes with one or multiple pseudogenes using pseudoxanthoma elasticum as a model
Wouter Steyaert
Shana Verschuere
Paul Coucke
Olivier Vanakker
A1
Journal Article
in
JOURNAL OF GENETICS AND GENOMICS
2021
Correcting a PLCζ mutation in the human germ line to overcome hereditary infertility
Bieke Bekaert
Annekatrien Boel
Mina Popovic
Panagiotis Stamatiadis
Petra De Sutter
Björn Menten
Dominic Stoop
Paul Coucke
Björn Heindryckx
C3
Conference
2021
Digital polymerase chain reaction for assessment of mutant mitochondrial carry-over after nuclear transfer for In Vitro fertilization
Olivier Tytgat
Willem van Snippenberg
Annekatrien Boel
Yannick Gansemans
Michiel Van Herp
Sofie Symoens
Wim Trypsteen
Dieter Deforce
Björn Heindryckx
Paul Coucke
Ward De Spiegelaere
Filip Van Nieuwerburgh
A1
Journal Article
in
CLINICAL CHEMISTRY
2021
Identification of skeletal deformities towards deep phenotyping of zebrafish (Danio rerio) connective tissue disease models
Caitlin Debaene
Adelbert De Clercq
Andy Willaert
Paul Coucke
C3
Conference
2021
Inorganic pyrophosphate plasma levels are decreased in pseudoxanthoma elasticum (PXE) patients and carriers, and correlate with the severity of the vascular phenotype
Matthias Van Gils
Paul Coucke
Shana Verschuere
Lukas Nollet
Olivier Vanakker
C3
Conference
2021
Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures
Lore Pottie
Wouter Van Gool
Michiel Vanhooydonck
Geert Goeminne
Andreja Rajkovic
Paul Coucke
Patrick Sips
Bert Callewaert
A1
Journal Article
in
PLOS GENETICS
2021
Lrp5 mutant and crispant zebrafish faithfully model human osteoporosis, establishing the zebrafish as a platform for CRISPR‐based functional screening of osteoporosis candidate genes
Jan Willem Bek
Adelbert De Clercq
Hanna De Saffel
Annekatrien Boel
Andy Willaert
Paul Coucke
A1
Journal Article
in
JOURNAL OF BONE AND MINERAL RESEARCH
2021
Photoconvertible fluorescent proteins : a versatile tool in zebrafish skeletal imaging
Jan Willem Bek
Adelbert De Clercq
Hanna De Saffel
Mieke Soenens
Ann Huysseune
Paul Witten
Paul Coucke
Andy Willaert
A1
Journal Article
in
JOURNAL OF FISH BIOLOGY
2021
Rare modifier variants alter the severity of cardiovascular disease in pseudoxanthoma elasticum : identification of novel candidate modifier genes and disease pathways through mixture of effects analysis
Eva De Vilder
Paul Coucke
Filip Van Nieuwerburgh
Olivier Vanakker
A1
Journal Article
in
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
2021
Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc
Shana Verschuere
Paul Coucke
Olivier Vanakker
A1
Journal Article
in
GENETICS IN MEDICINE
2021
The ZE-Tunnel : an affordable, easy-to-assemble, and user-friendly benchtop zebrafish swim tunnel
Jan Willem Bek
Adelbert De Clercq
Paul Coucke
Andy Willaert
A1
Journal Article
in
ZEBRAFISH
2021
The corneoscleral shape in Marfan syndrome
Paul Coucke
Bart Leroy
Elke kreps
A1
Journal Article
in
ACTA OPHTHALMOLOGICA
2021
The zebrafish in biomedical research : a vertebrate model to study skeletal disorders
Jan Willem Bek
Paul Coucke
Andy Willaert
Dissertation
2021
2020
A clinical scoring system for congenital contractural arachnodactyly
Ilse Meerschaut
Shana De Coninck
Wouter Steyaert
Frank Plasschaert
Paul Coucke
Anne De Paepe
Daniël De Wolf
Sofie Symoens
Bert Callewaert
A1
Journal Article
in
GENETICS IN MEDICINE
2020
A proof-of-concept study to investigate DNA repair mechanisms in the human embryo after the application of CRISPR/Cas9 gene editing in the germ line
Bieke Bekaert
Annekatrien Boel
Lisa De Witte
Mina Popovic
Ramesh Guggilla
Swati Mishra
Gwenny Cosemans
Susana Marina Chuva de Sousa Lopes
Petra De Sutter
Björn Menten
Dominic Stoop
Paul Coucke
Björn Heindryckx
C3
Conference
2020
Germline nuclear transfer in mice may rescue poor embryo development associated with advanced maternal age and early embryo arrest
Maoxing Tang
Mina Popovic
Panagiotis Stamatiadis
Margot Van der Jeught
Rudy Van Coster
Dieter Deforce
Petra De Sutter
Paul Coucke
Björn Menten
Dominic Stoop
Annekatrien Boel
Björn Heindryckx
A1
Journal Article
in
HUMAN REPRODUCTION
2020
Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome
Sarah Delbaere
Tim Van Damme
Delfien Syx
Sofie Symoens
Paul Coucke
Andy Willaert
Fransiska Malfait
A1
Journal Article
in
MATRIX BIOLOGY
2020
Maximizing CRISPR/Cas9 phenotype penetrance applying predictive modeling of editing outcomes in Xenopus and zebrafish embryos
Thomas Naert
Dieter Tulkens
Marjolein Carron
Annekatrien Boel
Suzan Demuynck
Paul Coucke
Andy Willaert
Kris Vleminckx
A1
Journal Article
in
SCIENTIFIC REPORTS
2020
Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa (vol 100, pg 216, 2017)
Tim Van Damme
Brecht Guillemyn
Delfien Syx
Wouter Steyaert
Riet De Rycke
Paul Coucke
Sofie Symoens
Anne De Paepe
Fransiska Malfait
Bert Callewaert
Correction
2020
New insights on the clinical variability of FKBP10 mutations
Osama Essawi
Piyanoot Tapaneeyaphan
Sofie Symoens
Charlotte Gistelinck
Fransiska Malfait
Bert Callewaert
Paul Coucke
A1
Journal Article
in
EUROPEAN JOURNAL OF MEDICAL GENETICS
2020
Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects
Annekatrien Boel
Marine Vanhomwegen
Aude Beyens
Marjolijn Renard
Christophe Casteleyn
Benedicte Descamps
Christian Vanhove
Paul Coucke
Andy Willaert
Bert Callewaert
A1
Journal Article
in
HUMAN MOLECULAR GENETICS
2020
VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum
Eva De Vilder
Mohammad Jakir Hosen
Julie De Zaeytijd
Bart Leroy
Paul Coucke
Anne De Paepe
Olivier Vanakker
A1
Journal Article
in
CLINICAL GENETICS
2020
Zebrafish : a resourceful vertebrate model to investigate skeletal disorders
Jan Willem Bek
Adelbert De Clercq
Paul Coucke
Andy Willaert
A1
Journal Article
in
FRONTIERS IN ENDOCRINOLOGY
2020
b3galt6 Knock-out zebrafish recapitulate β3GalT6-deficiency disorders in human and reveal a trisaccharide proteoglycan linkage region
Sarah Delbaere
Adelbert De Clercq
Jan Willem Bek
Delfien Syx
Paul Coucke
Andy Willaert
Fransiska Malfait
A1
Journal Article
in
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
2020
b3galt6 knock-out zebrafish recapitulate β3GalT6-deficiency disorders in human and reveal a trisaccharide proteoglycan linkage region
Sarah Delbaere
Adelbert De Clercq
Jan Willem Bek
Delfien Syx
Paul Coucke
Andy Willaert
Fransiska Malfait
Preprint
2020
2019
A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta
Brecht Guillemyn
Lynn Demuynck
Patrick Sips
Anne De Paepe
Delfien Syx
Paul Coucke
Fransiska Malfait
Sofie Symoens
A1
Journal Article
in
HUMAN MOLECULAR GENETICS
2019
Animal disease modeling of the arterial tortuosity syndrome : advancing the CRISPR/Cas9 system for improved genome editing
Annekatrien Boel
Paul Coucke
Andy Willaert
Dissertation
2019
Arterial tortuosity syndrome : 40 new families and literature review (vol 20, pg 1236, 2017)
Aude Beyens
Annekatrien Boel
Paul Coucke
Sofie De Schepper
Inge De Wandele
Andy Willaert
Bert Callewaert
Correction
2019
Compound screening for PXE using a zebrafish abcc6a CRISPR/Cas9 mutant model : a proof-of-concept study
Matthias Van Gils
Andy Willaert
Paul Coucke
Olivier Vanakker
C3
Conference
2019
Compound screening for PXE using zebrafish abcc6a mutant models
Matthias Van Gils
Andy Willaert
Paul Coucke
Olivier Vanakker
C3
Conference
2019
Compound screening for PXE using zebrafish abcc6a mutant models
Matthias Van Gils
Andy Willaert
Paul Coucke
Olivier Vanakker
C3
Conference
2019
Comprehensive re-assessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum
Shana Verschuere
Paul Coucke
Olivier Vanakker
C3
Conference
2019
Comprehensive re-assessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum
Shana Verschuere
Paul Coucke
Olivier Vanakker
C3
Conference
2019
Decreased nuclear ascorbate accumulation accompanied with altered genomic methylation pattern in fibroblasts from arterial tortuosity syndrome patients
Andy Willaert
Annekatrien Boel
Bert Callewaert
Paul Coucke
A1
Journal Article
in
OXIDATIVE MEDICINE AND CELLULAR LONGEVITY
2019
Generation and validation of the first complete knockout model of abcc6a in zebrafish
Matthias Van Gils
Andy Willaert
Eva De Vilder
Paul Coucke
Olivier Vanakker
C3
Conference
2019
Genetic analysis in consanguineous families from Palestine : a focus on cystic fibrosis and osteogenesis imperfecta
Osama Essawi
Paul Coucke
Bert Callewaert
Dissertation
2019
In-depth characterization of the ultrastructural variability of the vertebral column in a severe, medium and mildly affected Osteogenesis Imperfecta zebrafish model
Adelbert De Clercq
Hanna De Saffel
Jan Willem Bek
Myriam Claeys
Petra Vermassen
Paul Coucke
Andy Willaert
C3
Conference
2019
Knock-out of atp6v1e1b in zebrafish faithfully recapitulates the human cutis laxa syndrome and highlights the endosomal pathway in disease pathogenesis
Lore Pottie
Patrick Sips
Bert Callewaert
Petra Vermassen
Hanna De Saffel
Paul Coucke
C3
Conference
2019
Knock-out of atp6v1e1b in zebrafish faithfully recapitulates the human cutis laxa syndrome and highlights the endosomal pathway in disease pathogenesis.
Lore Pottie
Patrick Sips
Hanna De Saffel
Petra Vermassen
Paul Coucke
Bert Callewaert
C3
Conference
2019
Loss of galactosyltransferase II, encoded by B3GALT6, causes skeletal abnormalities in a zebrafish model for spondylodysplastic Ehlers-Danlos syndrome, the B3GALT6 type
Sarah Delbaere
Andy Willaert
Paul Coucke
Fransiska Malfait
C3
Conference
2019
Nucleic acids enrichment of fungal pathogens to study host-pathogen interactions
Antonio José Rodriguez Sánchez
Brecht Guillemyn
Paul Coucke
Mario Vaneechoutte
A1
Journal Article
in
SCIENTIFIC REPORTS
2019
PCR based target enrichment for variant confirmation, gene panels and multiplex PCR sample tracking in a whole exome sequencing workflow
Frauke Coppieters
Thalia Van Laethem
Matthias De Smet
Paul Coucke
Elfride De Baere
Kathleen Claes
Björn Menten
Jo Vandesompele
Steve Lefever
C3
Conference
2019
Targeted compound screening for PXE using CRISPR/Cas9 abcc6a mutant zebrafish model
Matthias Van Gils
Andy Willaert
Paul Coucke
Olivier Vanakker
C3
Conference
2019
The inflammasome pathway is involved in PXE through IL1B upregulation in patients with a severe cardiovascular PXE phenotype
Eva De Vilder
Paul Coucke
Anne De Paepe
Filip Van Nieuwerburgh
Olivier Vanakker
C3
Conference
2019
The zebrafish as a model for fragile bone disorders
Jan Willem Bek
Hanna De Saffel
Osama Essawi
Adelbert De Clercq
Paul Witten
Ann Huysseune
Paul Coucke
Andy Willaert
C3
Conference
2019
The zebrafish as a model for recessive types of Osteogenesis Imperfecta.
Jan Willem Bek
Hanna De Saffel
Osama Essawi
Adelbert De Clercq
Paul Witten
Ann Huysseune
Paul Coucke
Andy Willaert
C3
Conference
2019
The zebrafish as a model for recessive types of osteogenesis imperfecta
Jan Willem Bek
Hanna De Saffel
Osama Essawi
Adelbert De Clercq
Paul Witten
Ann Huysseune
Paul Coucke
Andy Willaert
C3
Conference
2019
Transcriptome and protein analysis highlight the endosomal pathway in disease pathogenesis of metabolic CL syndrome
Lore Pottie
Wouter Van Gool
Paul Coucke
Patrick Sips
Bert Callewaert
C3
Conference
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
Frank Plasschaert
Paul Coucke
Daniël De Wolf
Bert Callewaert
C3
Conference
2019
2018
A homozygous CREB3L1 missense mutation expands the mutational spectrum of CREB3L1-related osteogenesis imperfecta
Brecht Guillemyn
Delfien Syx
Anne De Paepe
Paul Coucke
Fransiska Malfait
Sofie Symoens
C3
Conference
2018
A mutant ATP6V1E1 zebrafish model recapitulates the human cutis laxa syndrome
Lore Pottie
Patrick Sips
Paul Coucke
Bert Callewaert
C3
Conference
2018
A mutant ATP6V1E1 zebrafish model recapitulates the human cutis laxa syndrome
Lore Pottie
Patrick Sips
Paul Coucke
C3
Conference
2018
ATP6V1E1 zebrafish model recapitulates the human cutis laxa syndrome
Lore Pottie
Patrick Sips
Paul Coucke
Bert Callewaert
C3
Conference
2018
Arterial tortuosity syndrome : 40 new families and literature review
Aude Beyens
Annekatrien Boel
Paul Coucke
Julie De Backer
Anne De Paepe
Sofie De Schepper
Inge De Wandele
Laura Muiño Mosquera
Marine Vanhomwegen
Andy Willaert
Bert Callewaert
A1
Journal Article
in
GENETICS IN MEDICINE
2018
BATCH-GE : analysis of NGS data for genome editing assessment
Wouter Steyaert
Annekatrien Boel
Paul Coucke
Andy Willaert
Bookchapter
in
Xenopus : methods and protocols
2018
CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments
Annekatrien Boel
Hanna De Saffel
Wouter Steyaert
Bert Callewaert
Anne De Paepe
Paul Coucke
Andy Willaert
A1
Journal Article
in
DISEASE MODELS & MECHANISMS
2018
Delineation of a clinical scoring system and diagnostic criteria for CCA
Ilse Meerschaut
Wouter Steyaert
Daniël De Wolf
Frank Plasschaert
Paul Coucke
Anne De Paepe
Sofie Symoens
Bert Callewaert
C3
Conference
2018
Future perspectives of genome-scale sequencing
Wouter Steyaert
Steven Callens
Paul Coucke
Bart Dermaut
Dimitri Hemelsoet
Bruce Poppe
A1
Journal Article
in
ACTA CLINICA BELGICA
2018
Generation and validation of a complete knockout model of abcc6a in zebrafish
Matthias Van Gils
Andy Willaert
Eva De Vilder
Paul Coucke
Olivier Vanakker
A1
Journal Article
in
JOURNAL OF INVESTIGATIVE DERMATOLOGY
2018
Generation and validation of a complete knockout model of abcc6a in zebrafish
Matthias Van Gils
Andy Willaert
Eva De Vilder
Paul Coucke
Olivier Vanakker
C3
Conference
2018
Generation and validation of the first complete knockout model of ABCC6A in zebrafish
Matthias Van Gils
Andy Willaert
Paul Coucke
Olivier Vanakker
C3
Conference
2018
Generation and validation of the first complete knockout model of abcc6a in zebrafish
Matthias Van Gils
Andy Willaert
Eva De Vilder
Paul Coucke
Olivier Vanakker
C3
Conference
2018
Generation and validation of the first complete knockout model of abcc6a in zebrafish
Matthias Van Gils
Andy Willaert
Eva De Vilder
Paul Coucke
Olivier Vanakker
C3
Conference
2018
Generation and validation of the first complete knockout model of abcc6a in zebrafish
Matthias Van Gils
Andy Willaert
Eva De Vilder
Paul Coucke
Olivier Vanakker
C3
Conference
2018
Genetic analysis of osteogenesis imperfecta in the Palestinian population : molecular screening of 49 affected families
Osama Essawi
Sofie Symoens
Andy Willaert
Bert Callewaert
Anne De Paepe
Fransiska Malfait
Paul Coucke
A1
Journal Article
in
MOLECULAR GENETICS & GENOMIC MEDICINE
2018
IRF2BPL is associated with neurological phenotypes
Wouter Steyaert
Bart Dermaut
Bruce Poppe
Dimitri Hemelsoet
Steven Callens
Paul Coucke
Wim Terryn
Rudy Van Coster
A1
Journal Article
in
AMERICAN JOURNAL OF HUMAN GENETICS
2018
Implementation of an in-house designed skeletal dysplasia gene panel as a first screening step to diagnose unsolved osteogenesis imperfecta(-like) patients
Brecht Guillemyn
Delfien Syx
Toon Rosseel
Björn Menten
Anne De Paepe
Paul Coucke
Fransiska Malfait
Sofie Symoens
C3
Conference
2018
Loss of galactosyltransferase II, encoded by B3GALT6, causes skeletal abnormalities in a zebrafish model for spondylodysplastic Ehlers-Danlos syndrome, the B3GALT6 type
Sarah Delbaere
Andy Willaert
Paul Coucke
Fransiska Malfait
C3
Conference
2018
Loss of galactosyltransferase II, encoded by B3GALT6, causes skeletal abnormalities in a zebrafish model for spondylodysplastic Ehlers-Danlos syndrome, the B3GALT6 type
Sarah Delbaere
Andy Willaert
Paul Coucke
Fransiska Malfait
C3
Conference
2018
Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke
Eva De Vilder
Julie De Zaeytijd
Bart Leroy
Jacques De Reuck
Paul Coucke
Anne De Paepe
Dimitri Hemelsoet
Olivier Vanakker
A1
Journal Article
in
BRAIN PATHOLOGY
2018
Screening for osteogenic compounds using the zebrafish as a model
Jan Willem Bek
Hanna De Saffel
Paul Coucke
Andy Willaert
C3
Conference
2018
Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines for the interpretation of sequenced variants in the FBN1 gene for Marfan syndrome : proposal for a disease- and gene-specific guideline
Laura Muiño Mosquera
Felke Steijns
Ilse Meerschaut
Anne De Paepe
Wouter Steyaert
Sofie Symoens
Paul Coucke
Bert Callewaert
Marjolijn Renard
Julie De Backer
A1
Journal Article
in
CIRCULATION-GENOMIC AND PRECISION MEDICINE
2018
Uncovering the role of atm in zebrafish
Jeroen Vierstraete
Anne Vral
Paul Coucke
Andy Willaert
Kathleen Claes
C3
Conference
2018
Uncovering the role of zebrafish in atm
Jeroen Vierstraete
Andy Willaert
Paul Coucke
Anne Vral
Kathleen Claes
C3
Conference
2018
Uncovering the role of zebrafish in atm
Jeroen Vierstraete
Andy Willaert
Paul Coucke
Anne Vral
Kathleen Claes
C3
Conference
2018
Zebrafish modeling for spondylodysplastic Ehlers-Danlos syndrome, the B4GALT7 type : mimicking the human hypomorphic phenotype in a validated knock-down model
Sarah Delbaere
Tim Van Damme
Delfien Syx
Paul Coucke
Anne De Paepe
Sofie Symoens
Andy Willaert
Fransiska Malfait
C3
Conference
2018
Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies
Charlotte Gistelinck
Fransiska Malfait
Sofie Symoens
Patrick Sips
Brecht Guillemyn
Jan Willem Bek
Petra Vermassen
Hanna De Saffel
Paul Witten
Anne De Paepe
Andy Willaert
Paul Coucke
A1
Journal Article
in
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
2018
2017
A mild form of Stickler syndrome type II caused by mosaicism of COL11A1
Paul Coucke
A1
Journal Article
in
EUROPEAN JOURNAL OF MEDICAL GENETICS
2017
A novel case of autosomal dominant cutis laxa in a consanguineous family : report and literature review
Paul Coucke
Anne De Paepe
Bert Callewaert
A1
Journal Article
in
CLINICAL DYSMORPHOLOGY
2017
A novel fibrillin-1 mutation in an Egyptian Marfan family : a proband showing nephrotic syndrome due to focal segmental glomerulosclerosis
Paul Coucke
A2
Journal Article
in
SAUDI JOURNAL OF KIDNEY DISEASES AND TRANSPLANTATION
2017
Accurate quantification of homologous recombination : a zebrafish BRCA2-/- model
Jeroen Vierstraete
Andy Willaert
Petra Vermassen
Leen Pieters
Paul Coucke
Anne Vral
Kathleen Claes
C3
Conference
2017
Accurate quantification of homologous recombination : a zebrafish brca2-/- model
Jeroen Vierstraete
Andy Willaert
Petra Vermassen
Leen Pieters
Paul Coucke
Anne Vral
Kathleen Claes
C3
Conference
2017
Accurate quantification of homologous recombination in zebrafish : brca2 deficiency as a paradigm
Jeroen Vierstraete
Andy Willaert
Petra Vermassen
Paul Coucke
Anne Vral
Kathleen Claes
A1
Journal Article
in
SCIENTIFIC REPORTS
2017
Arterial tortuosity syndrome : 37 new families and literature review
Aude Beyens
Anne De Paepe
Laura Muiño Mosquera
Julie De Backer
Annekatrien Boel
Andy Willaert
Paul Coucke
Bert Callewaert
C3
Conference
2017
Arterial tortuosity syndrome : 40 new families and literature review
Aude Beyens
Annekatrien Boel
Paul Coucke
Julie De Backer
Anne De Paepe
Sofie De Schepper
Inge De Wandele
Bart Loeys
Laura Muiño Mosquera
Marine Vanhomwegen
Andy Willaert
Bert Callewaert
C3
Conference
2017
Congenital contractural arachnodactyly : delineation of clinical criteria
Ilse Meerschaut
Shana De Coninck
Wouter Steyaert
Julie De Backer
Paul Coucke
Anne De Paepe
Sofie Symoens
Bert Callewaert
C3
Conference
2017
Congenital contractural arachnodactyly : delineation of clinical criteria
Ilse Meerschaut
Shana De Coninck
Wouter Steyaert
Julie De Backer
Paul Coucke
Anne De Paepe
Sofie Symoens
Bert Callewaert
C3
Conference
2017
GLUT10 - lacking in arterial tortuosity syndrome - is localized to the endoplasmic reticulum of human fibroblasts
Andy Willaert
Bert Callewaert
Paul Coucke
A1
Journal Article
in
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
2017
Generation and validation of zebrafish models for heritable skeletal disorders
Charlotte Gistelinck
Paul Coucke
Andy Willaert
Dissertation
2017
Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa
Tim Van Damme
Brecht Guillemyn
Delfien Syx
Wouter Steyaert
Riet De Rycke
Paul Coucke
Sofie Symoens
Anne De Paepe
Fransiska Malfait
Bert Callewaert
A1
Journal Article
in
AMERICAN JOURNAL OF HUMAN GENETICS
2017
Myhre syndrome : broadening the phenotypic spectrum
Ilse Meerschaut
Sandra Janssens
Wouter Steyaert
Joseph Panzer
Katrien Francois
Frank Plasschaert
Katrien Bonte
Tine De Backer
Paul Coucke
Daniël De Wolf
Bert Callewaert
C3
Conference
2017
Myhre syndrome : broadening the phenotypic spectrum
Ilse Meerschaut
Sandra Janssens
Wouter Steyaert
Joseph Panzer
Frank Plasschaert
Katrien Bonte
Tine De Backer
Paul Coucke
Daniël De Wolf
Bert Callewaert
C3
Conference
2017
Study of homologous recombination repair in BRCA2 knockout zebrafish embryos
Jeroen Vierstraete
Andy Willaert
Paul Coucke
Anne Vral
Kathleen Claes
C3
Conference
2017
Study of homologous recombination repair in BRCA2 knockout zebrafish embryos
Jeroen Vierstraete
Andy Willaert
Paul Coucke
Anne Vral
Kathleen Claes
C3
Conference
2017
Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome
Sofie Symoens
Wouter Steyaert
Lynn Demuynck
Anne De Paepe
Fransiska Malfait
Paul Coucke
A1
Journal Article
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2017
Whole-exome sequencing as a powerful tool to unravel the molecular pathogenesis of osteogenesis imperfecta
Brecht Guillemyn
Tim Van Damme
Delfien Syx
Anne De Paepe
Fransiska Malfait
Paul Coucke
Sofie Symoens
C3
Conference
2017
Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome
Sarah Delbaere
Tim Van Damme
Paul Coucke
Sofie Symoens
Delfien Syx
Andy Willaert
Fransiska Malfait
C3
Conference
2017
Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome
Sarah Delbaere
Tim Van Damme
Paul Coucke
Sofie Symoens
Delfien Syx
Andy Willaert
Fransiska Malfait
C3
Conference
2017
Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome
Sarah Delbaere
Tim Van Damme
Paul Coucke
Sofie Symoens
Delfien Syx
Andy Willaert
Fransiska Malfait
C3
Conference
2017
Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome
Sarah Delbaere
Tim Van Damme
Paul Coucke
Sofie Symoens
Andy Willaert
Fransiska Malfait
C3
Conference
2017
2016
A homozygous B3GAT3 mutation causes a multisystemic cutis laxa-like syndrome, expanding the phenotype of linkeropathies
Brecht Guillemyn
Tim Van Damme
Wouter Steyaert
Delfien Syx
Paul Coucke
Anne De Paepe
Sofie Symoens
Fransiska Malfait
C3
Conference
2016
An exploratory case-control study on the impact of IL-1 gene polymorphisms on early implant failure
Jan Cosyn
Véronique Christiaens
Paul Coucke
Peter De Coster
Anne De Paepe
Hugo De Bruyn
A1
Journal Article
in
CLINICAL IMPLANT DENTISTRY AND RELATED RESEARCH
2016
Arterial tortuosity syndrome : 29 novel families
Aude Beyens
Anne De Paepe
Laura Muiño Mosquera
Julie De Backer
Andy Willaert
Annekatrien Boel
Paul Coucke
Bert Callewaert
C3
Conference
2016
Association of variants in the VEGFA (Vascular Endothelial Growth Factor) gene with severe retinopathy in pseudoxanthoma elasticum: implications for molecular screening, counseling and management
Eva De Vilder
Mohammad Jakir Hosen
Julie De Zaeytijd
Bart Leroy
Paul Coucke
Anne De Paepe
Olivier Vanakker
C3
Conference
2016
BATCH-GE : batch analysis of next-generation sequencing data for genome editing assessment
Annekatrien Boel
Wouter Steyaert
Nina De Rocker
Björn Menten
Bert Callewaert
Anne De Paepe
Paul Coucke
Andy Willaert
A1
Journal Article
in
SCIENTIFIC REPORTS
2016
CRISPR-Cas9 modeling of cell lines and zebrafish to study the TLX1-PHF6 cooperative interrelationship in T-cell acute lymphoblastic leukemia
Siebe Loontiens
Kaat Durinck
Nina De Rocker
Annekatrien Boel
Suzanne Vanhauwaert
Pieter Rondou
Inge Van de Walle
Tom Taghon
Björn Menten
Andy Willaert
Paul Coucke
Pieter Van Vlierberghe
Franki Speleman
C3
Conference
2016
Characterization of a novel mutation in PAX9 gene in a family with non-syndromic dental agenesis
Peter De Coster
Paul Coucke
A1
Journal Article
in
ARCHIVES OF ORAL BIOLOGY
2016
Congenital contractural arachnodactyly
Ilse Meerschaut
Shana De Coninck
Wouter Steyaert
Julie De Backer
Paul Coucke
Anne De Paepe
Sofie Symoens
Bert Callewaert
C3
Conference
2016
Congenital contractural arachnodactyly : delineation of clinical criteria
Ilse Meerschaut
Shana De Coninck
Wouter Steyaert
Julie De Backer
Paul Coucke
Anne De Paepe
Sofie Symoens
Bert Callewaert
C3
Conference
2016
DNA diagnostics of hereditary hearing loss : a targeted resequencing approach combined with a mutation classification system
Els De Leenheer
Sandra Janssens
Kathleen Claes
Paul Coucke
A1
Journal Article
in
HUMAN MUTATION
2016
Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome
Wouter Steyaert
Paul Coucke
A1
Journal Article
in
CLINICAL GENETICS
2016
Fibroblasts in soft tissue mineralization display an osteogenic expression pattern but do not transform into mature osteoblasts
Matthias Van Gils
Eva De Vilder
Paul Coucke
Anne De Paepe
Olivier Vanakker
C3
Conference
2016
Fibroblasts in soft tissue mineralization display an osteogenic gene expression pattern but do not transform into mature osteoblasts
Matthias Van Gils
Eva De Vilder
Paul Coucke
Anne De Paepe
Olivier Vanakker
C3
Conference
2016
Fibroblasts in soft tissue mineralization display an osteogenic gene expression pattern but do not transform into mature osteoblasts
Matthias Van Gils
Eva De Vilder
Paul Coucke
Anne De Paepe
Olivier Vanakker
C3
Conference
2016
Glucose transporter type 10 - lacking in arterial tortuosity syndrome - facilitates dehydroascorbic acid transport
Andy Willaert
Bert Callewaert
Paul Coucke
A1
Journal Article
in
FEBS LETTERS
2016
Hearing loss in Waardenburg syndrome: a systematic review
Frederic Acke
Paul Coucke
Kris Vleminckx
Ingeborg Dhooge
A1
Journal Article
in
CLINICAL GENETICS
2016
Identification of von Willebrand disease type 1 in a patient with Ehlers–Danlos syndrome classic type
Paul Coucke
Anne De Paepe
A1
Journal Article
in
HAEMOPHILIA
2016
Loss of type I collagen telopeptide lysyl hydroxylation causes musculoskeletal abnormalities in a zebrafish model of Bruck syndrome
Charlotte Gistelinck
Paul Witten
Ann Huysseune
Sofie Symoens
Fransiska Malfait
Daria Larionova
Pascal Simoens
Manuel Dierick
Luc Van Hoorebeke
Anne De Paepe
Andy Willaert
Paul Coucke
A1
Journal Article
in
JOURNAL OF BONE AND MINERAL RESEARCH
2016
Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP
Paul Coucke
Wouter Steyaert
A1
Journal Article
in
BMC MEDICAL GENETICS
2016
RT-qPCR gene expression analysis in zebrafish : preanalytical precautions and use of expressed repetitive elements for normalization
Suzanne Vanhauwaert
Steve Lefever
Paul Coucke
Franki Speleman
Anne De Paepe
Jo Vandesompele
Andy Willaert
A1
Journal Article
in
Methods in Cell Biology
2016
Stickler syndrome: comprehensive clinical and molecular analysis
Frederic Acke
Paul Coucke
Olivier Vanakker
Kristien Hoornaert
Geert Mortier
Ingeborg Dhooge
Anne De Paepe
Els De Leenheer
Fransiska Malfait
C3
Conference
2016
Studying the functionality of the homologous repair pathway in zebrafish embryos : heading for an in vivo functional test to evaluate the pathogenicity of BRCA2 variants
Jeroen Vierstraete
Andy Willaert
Kris Vleminckx
Petra Vermassen
Leen Pieters
Paul Coucke
Anne Vral
Kathleen Claes
C3
Conference
2016
Studying the functionality of the homologous repair pathway in zebrafish embryos : heading for an in vivo functional test to evaluate the pathogenicity of BRCA2 variants identified in breast/ovarian cancer patients
Jeroen Vierstraete
Andy Willaert
Petra Vermassen
Leen Pieters
Paul Coucke
Anne Vral
Kathleen Claes
C3
Conference
2016
Studying the functionality of the homologous repair pathway in zebrafish embryos : heading for an in vivo functional test to evaluate the pathogenicity of BRCA2 variants identified in breast/ovarian cancer patients
Jeroen Vierstraete
Andy Willaert
Petra Vermassen
Leen Pieters
Paul Coucke
Anne Vral
Kathleen Claes
C3
Conference
2016
Studying the functionality of the homologous repair pathway in zebrafish embryos : heading for an in vivo functional test to evaluate the pathogenicity of BRCA2 variants identified in breast/ovarian cancer patients
Jeroen Vierstraete
Andy Willaert
Petra Vermassen
Leen Pieters
Paul Coucke
Anne Vral
Kathleen Claes
C3
Conference
2016
Zebrafish collagen type I: molecular and biochemical characterization of the major structural protein in bone and skin
Charlotte Gistelinck
Ann Huysseune
Paul Witten
An Staes
Kris Gevaert
Nina De Rocker
Björn Menten
Fransiska Malfait
Anne De Paepe
Paul Coucke
Andy Willaert
A1
Journal Article
in
SCIENTIFIC REPORTS
2016
Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome
Sarah Delbaere
Tim Van Damme
Andy Willaert
Sofie Symoens
Paul Coucke
Fransiska Malfait
C3
Conference
2016
2015
A zebrafish model for Bruck syndrome caused by PLOD2 mutations
Charlotte Gistelinck
Andy Willaert
Pascal Simoens
Sofie Symoens
Paul Witten
Ann Huysseune
Christian Vanhove
Fransiska Malfait
Anne De Paepe
Paul Coucke
C3
Conference
2015
Altered cytoskeletal organization characterized lethal but not surviving Brtl(+/-) mice: insight on phenotypic variability in osteogenesis imperfecta
Paul Coucke
Sofie Symoens
A1
Journal Article
in
HUMAN MOLECULAR GENETICS
2015
Association between Kniest dysplasia and chondrosarcoma in a child
Paul Coucke
A1
Journal Article
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2015
Characterization of a col1a1a haploinsufficient zebrafish model for Osteogenesis Imperfecta type I
Pascal Simoens
Charlotte Gistelinck
Sofie Symoens
Christian Vanhove
Fransiska Malfait
Anne De Paepe
Paul Coucke
Andy Willaert
C3
Conference
2015
Comparison of methods for in-house screening of HLA*B57:01 to prevent abacavir hypersensitivity in HIV-1 care
Ward De Spiegelaere
Jan Philippé
Chris Verhofstede
Eva Malatinková
Maja Kiselinova
Wim Trypsteen
Pawel Bonczkowski
Dirk Vogelaers
Steven Callens
Petra Van Acker
Paul Coucke
Linos Vandekerckhove
A1
Journal Article
in
PLOS ONE
2015
Defective proteolytic processing of fibrillar procollagens and prodecorin due to biallelic BMP1 mutations results in a severe, progressive form of osteogenesis imperfecta
Delfien Syx
Brecht Guillemyn
Sofie Symoens
Paul Coucke
Anne De Paepe
Fransiska Malfait
A1
Journal Article
in
JOURNAL OF BONE AND MINERAL RESEARCH
2015
Efficiency of exome sequencing for the molecular diagnosis of Pseudoxanthoma Elasticum
Mohammad Jakir Hosen
Filip Van Nieuwerburgh
Wouter Steyaert
Dieter Deforce
Anne De Paepe
Paul Coucke
Olivier Vanakker
A1
Journal Article
in
JOURNAL OF INVESTIGATIVE DERMATOLOGY
2015
Ehlers-Danlos syndrome, hypermobility type, is linked to chromosome 8p22-8p21.1 in an extended Belgian family
Delfien Syx
Sofie Symoens
Wouter Steyaert
Anne De Paepe
Paul Coucke
Fransiska Malfait
A1
Journal Article
in
DISEASE MARKERS
2015
Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice
Kim De Leeneer
Jan Hellemans
Wouter Steyaert
Steve Lefever
Inge Vereecke
Eveline Debals
Brecht Crombez
Machteld Baetens
Mattias Van Heetvelde
Frauke Coppieters
Jo Vandesompele
Annelies De Jaegher
Elfride De Baere
Paul Coucke
Kathleen Claes
A1
Journal Article
in
HUMAN MUTATION
2015
Gene panel sequencing in heritable thoracic aortic disorders and related entities: results of comprehensive testing in a cohort of 264 patients
Laurence Campens
Bert Callewaert
Laura Muiño Mosquera
Marjolijn Renard
Sofie Symoens
Anne De Paepe
Paul Coucke
Julie De Backer
A1
Journal Article
in
ORPHANET JOURNAL OF RARE DISEASES
2015
Genetic defects in TAPT1 disrupt ciliogenesis and cause a complex lethal osteochondrodysplasia
Sofie Symoens
Charlotte Gistelinck
Fransiska Malfait
Brecht Guillemyn
Wouter Steyaert
Delfien Syx
Sanne D'hondt
Julie De Backer
Paul Witten
Ann Huysseune
Kris Vleminckx
Andy Willaert
Anne De Paepe
Paul Coucke
A1
Journal Article
in
AMERICAN JOURNAL OF HUMAN GENETICS
2015
Genetics of the Ehlers-Danlos syndrome: more than collagen disorders
Tim Van Damme
Delfien Syx
Paul Coucke
Sofie Symoens
Anne De Paepe
Fransiska Malfait
A1
Journal Article
in
EXPERT OPINION ON ORPHAN DRUGS
2015
Marfan syndrome and related heritable thoracic aortic aneurysms and dissections
Julie De Backer
Marjolijn Renard
Laurence Campens
Laura Muiño Mosquera
Anne De Paepe
Paul Coucke
Bert Callewaert
A1
Journal Article
in
CURRENT PHARMACEUTICAL DESIGN
2015
Next generation sequencing to determine the cystic fibrosis mutation spectrum in Palestinian population
Osama Essawi
Kim De Leeneer
Wouter Steyaert
Katia De Pauw
Anne De Paepe
Kathleen Claes
Paul Coucke
A1
Journal Article
in
DISEASE MARKERS
2015
Novel phenotypes and genes in pseudoxanthoma elasticum-related soft tissue mineralization: results of an integrative approach
Eva De Vilder
Mohammad Jakir Hosen
Paul Coucke
Anne De Paepe
Filip Van Nieuwerburgh
Olivier Vanakker
C3
Conference
2015
RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder
Patrick Santens
Tim Van Damme
Wouter Steyaert
Andy Willaert
Anne De Paepe
Paul Coucke
Bart Dermaut
A1
Journal Article
in
NEUROLOGY
2015
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity
Nina De Rocker
Sarah Vergult
Eva Jacobs
Suzanne Vanhauwaert
Andy Willaert
Paul Coucke
Franki Speleman
Björn Menten
A1
Journal Article
in
GENETICS IN MEDICINE
2015
The genetics of soft connective tissue disorders
Olivier Vanakker
Bert Callewaert
Fransiska Malfait
Paul Coucke
A1
Journal Article
in
Annual Review of Genomics and Human Genetics
2015
The soft tissue immunologic response to hydroxyapatite-coated transmucosal implant surfaces: a study in humans
Paul Coucke
Stefan Vandeweghe
Hugo De Bruyn
A1
Journal Article
in
CLINICAL IMPLANT DENTISTRY AND RELATED RESEARCH
2015
Tissue specific mosaicism for a lethal COL1A1 mutation causes mild Ehlers-Danlos syndrome
Sofie Symoens
Wouter Steyaert
Lynn Demuynck
Fransiska Malfait
Anne De Paepe
Paul Coucke
C3
Conference
2015
Type III collagen is important for collagen fibrillogenesis and for dermal and cardiovascular development
Sanne D'hondt
Brecht Guillemyn
Sofie Symoens
Wendy Toussaint
Leen Vanhoutte
Riet De Rycke
Paul Coucke
Bart Lambrecht
Patrick Segers
Anne De Paepe
Sophie Janssens
Mathieu Bertrand
Fransiska Malfait
C3
Conference
2015
Type III collagen is important for type I collagen fibrillogenesis and for dermal and cardiovascular development
Sanne D'hondt
Brecht Guillemyn
Sofie Symoens
Wendy Toussaint
Leen Vanhoutte
Riet De Rycke
Paul Coucke
Patrick Segers
Bart Lambrecht
Anne De Paepe
Sophie Janssens
Mathieu Bertrand
Fransiska Malfait
C3
Conference
2015
Whole exome sequencing as a novel tool for the detection of modifier genes in Pseudoxanthoma elasticum
Eva De Vilder
Filip Van Nieuwerburgh
Dieter Deforce
Paul Coucke
Anne De Paepe
Olivier Vanakker
C3
Conference
2015
2014
A case of dendritic cell, monocyte, B and NK lymphoid deficiency (DCML)
Melissa Dullaers
Tessa Kerre
Frauke Coppieters
Dorine Sichien
Nancy De Cabooter
Veronique Debacker
Reinhart Speeckaert
Paul Coucke
Filomeen Haerynck
Bart Lambrecht
Karim Vermaelen
C3
Conference
2014
A zebrafish model for Bruck Syndrome caused by PLOD2 mutations
Andy Willaert
Charlotte Gistelinck
Pascal Simoens
Sofie Symoens
Christian Vanhove
Fransiska Malfait
Anne De Paepe
Paul Coucke
C3
Conference
2014
Absence of cardiovascular manifestations in a haploinsufficient TGFBR1 mouse model
Marjolijn Renard
Bram Trachet
Christophe Casteleyn
Laurence Campens
Pieter Cornillie
Bert Callewaert
Steven Deleye
Bert Vandeghinste
Filip De Vos
Steven Staelens
Patrick Segers
Bart Loeys
Paul Coucke
Anne De Paepe
Julie De Backer
A1
Journal Article
in
PLOS ONE
2014
Arterial tortuosity syndrome
Bert Callewaert
Anne De Paepe
Paul Coucke
Bookchapter
in
GeneReviews®
2014
Characterization of a COL1A1A haploinsufficient zebrafish model for Osteogenesis Imperfecta type I
Charlotte Gistelinck
Pascal Simoens
Sofie Symoens
Christian Vanhove
Fransiska Malfait
Anne De Paepe
Paul Coucke
Andy Willaert
C3
Conference
2014
Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene
Bert Callewaert
Anne De Paepe
Paul Coucke
A2
Journal Article
in
JOURNAL OF PEDIATRIC GENETICS
2014
Congenital fixed dilated pupils due to ACTA2-multisystemic smooth muscle dysfunction syndrome
Franny Faes
Julie De Zaeytijd
Paul Coucke
A1
Journal Article
in
JOURNAL OF NEURO-OPHTHALMOLOGY
2014
Defects in TAPT1, involved in axial skeletal patterning, cause a complex lethal recessive disorder of skeletal development
Sofie Symoens
Charlotte Gistelinck
Fransiska Malfait
Kris Vleminckx
Brecht Guillemyn
Delfien Syx
Wouter Steyaert
Eef Parthoens
Julie De Backer
Andy Willaert
Anne De Paepe
Paul Coucke
C3
Conference
2014
Diagnostic criteria for Stickler syndrome based on comprehensive clinical and molecular analysis
Frederic Acke
Paul Coucke
Olivier Vanakker
Kristien Hoornaert
Ingeborg Dhooge
Anne De Paepe
Els De Leenheer
Fransiska Malfait
C3
Conference
2014
Expressed repeat elements improve RT-qPCR normalization across a wide range of zebrafish gene expression studies
Suzanne Vanhauwaert
Gert Van Peer
Ali Rihani
Pieter Rondou
Steve Lefever
Anne De Paepe
Paul Coucke
Franki Speleman
Jo Vandesompele
Andy Willaert
A1
Journal Article
in
PLOS ONE
2014
Focal segmental glomerulosclerosis in a child with Marfan syndrome and novel fibrillin gene mutation
Paul Coucke
C3
Conference
2014
Illumina sequencing of 15 deafness genes using fragmented amplicons
Filip Van Nieuwerburgh
Sarah De Keulenaer
Joachim De Schrijver
Jo Vandesompele
Wim Van Criekinge
Paul Coucke
Dieter Deforce
A2
Journal Article
in
BMC RESEARCH NOTES
2014
Mutation detection rate and - characteristics in thoracic aortic aneurysm (TAA) related disorders: results from next generation sequencing (NGS) panel testing
Laurence Campens
Laura Muiño Mosquera
Bert Callewaert
Marjolijn Renard
Machteld Baetens
Anne De Paepe
Paul Coucke
Julie De Backer
C3
Conference
2014
Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene
Bert Callewaert
Paul Coucke
Anne De Paepe
Sofie Symoens
A1
Journal Article
in
EUROPEAN JOURNAL OF MEDICAL GENETICS
2014
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing
Frederic Acke
Fransiska Malfait
Olivier Vanakker
Wouter Steyaert
Kim De Leeneer
Geert Mortier
Ingeborg Dhooge
Anne De Paepe
Els De Leenheer
Paul Coucke
A1
Journal Article
in
MOLECULAR GENETICS AND METABOLISM
2014
Perturbation of specific pro-mineralizing signalling pathways in human and murine pseudoxanthoma elasticum
Mohammad Jakir Hosen
Paul Coucke
Anne De Paepe
Olivier Vanakker
A1
Journal Article
in
ORPHANET JOURNAL OF RARE DISEASES
2014
Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1
Bert Callewaert
Paul Coucke
A1
Journal Article
in
MOLECULAR GENETICS AND METABOLISM
2014
Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structure
Sofie Symoens
Paul Coucke
Anne De Paepe
Fransiska Malfait
A1
Journal Article
in
HUMAN MUTATION
2014
2013
A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing
Kathleen Claes
Paul Coucke
A1
Journal Article
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2013
Audiologic and genetic determination of hearing loss in osteogenesis imperfecta
Freya Swinnen
Els De Leenheer
Paul Coucke
Ingeborg Dhooge
C3
Conference
2013
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa
Bert Callewaert
Tim Van Damme
Philip Vlummens
Fransiska Malfait
Olivier Vanakker
Sofie Symoens
Paul Coucke
Anne De Paepe
A1
Journal Article
in
HUMAN MUTATION
2013
Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans
Sofie Symoens
Fransiska Malfait
Sanne D'hondt
Bert Callewaert
Annelies Dheedene
Wouter Steyaert
Anne De Paepe
Paul Coucke
A1
Journal Article
in
ORPHANET JOURNAL OF RARE DISEASES
2013
Dermatosparaxis (Ehlers–Danlos type VIIC): prenatal diagnosis following a previous pregnancy with unexpected skull fractures at delivery
Paul Coucke
Sofie Symoens
A1
Journal Article
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2013
First report of the genetic background of Marfan syndrome in Polish patients
Paul Coucke
Julie De Backer
Anne De Paepe
A1
Journal Article
in
POLSKIE ARCHIWUM MEDYCYNY WEWNETRZNEJ-POLISH ARCHIVES OF INTERNAL MEDICINE
2013
Long-term effects of continuing adjuvant tamoxifen to 10 years versus stopping at 5 years after diagnosis of oestrogen receptor-positive breast cancer: ATLAS, a randomised trial
Paul Coucke
Herman Depypere
Rudy Van den Broecke
A1
Journal Article
in
LANCET
2013
New insights into the molecular diagnosis and management of heritable thoracic aortic aneurysms and dissections
Laurence Campens
Marjolijn Renard
Bert Callewaert
Paul Coucke
Julie De Backer
Anne De Paepe
A1
Journal Article
in
POLSKIE ARCHIWUM MEDYCYNY WEWNETRZNEJ-POLISH ARCHIVES OF INTERNAL MEDICINE
2013
Novel COL11A1 mutations in Stickler syndrome detected by next-generation sequencing
Frederic Acke
Fransiska Malfait
Olivier Vanakker
Wouter Steyaert
Kim De Leeneer
Geert Mortier
Ingeborg Dhooge
Anne De Paepe
Els De Leenheer
Paul Coucke
C3
Conference
2013
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD
Marjolijn Renard
Bert Callewaert
Machteld Baetens
Laurence Campens
Paul Coucke
Bart Loeys
Anne De Paepe
Julie De Backer
A1
Journal Article
in
INTERNATIONAL JOURNAL OF CARDIOLOGY
2013
Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum
Mohammad Jakir Hosen
Paul Coucke
Anne De Paepe
Olivier Vanakker
A1
Journal Article
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2013
Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2
Marjolijn Renard
Bert Callewaert
Fransiska Malfait
Laurence Campens
Paul Coucke
Anne De Paepe
Julie De Backer
A1
Journal Article
in
INTERNATIONAL JOURNAL OF CARDIOLOGY
2013
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity
Bert Callewaert
Marjolijn Renard
Julie De Backer
Fransiska Malfait
Olivier Vanakker
Paul Coucke
Anne De Paepe
A1
Journal Article
in
ORPHANET JOURNAL OF RARE DISEASES
2013
Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome
Paul Coucke
Sofie Symoens
A2
Journal Article
in
BONEKEY REPORTS
2013
Zebrafish models for ectopic mineralization disorders : practical issues from morpholino design to post-injection observations
Mohammad Jakir Hosen
Olivier Vanakker
Andy Willaert
Ann Huysseune
Paul Coucke
Anne De Paepe
A2
Journal Article
in
FRONTIERS IN GENETICS
2013
2012
A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment
Annelies Dheedene
Paul Coucke
A1
Journal Article
in
AMERICAN JOURNAL OF HUMAN GENETICS
2012
A new case of dendritic cell immunodeficiency: the 'DCML-like' syndrome
Tessa Kerre
Melissa Dullaers
Dorine Sichien
Reinhart Speeckaert
Paul Coucke
C3
Conference
2012
Agressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants
Lut Van Laer
Bart Loeys
Julie De Backer
Paul Coucke
Anne De Paepe
A1
Journal Article
in
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
2012
Arterial tortuosity syndrome : case report
Paul Coucke
A1
Journal Article
in
GENETIC COUNSELING
2012
Association between bone mineral density and hearing loss in osteogenesis imperfecta
Freya Swinnen
Els De Leenheer
Stefan Goemaere
Paul Coucke
Ingeborg Dhooge
A1
Journal Article
in
LARYNGOSCOPE
2012
Audiologic and genetic determination of hearing loss in osteogenesis imperfecta
Freya Swinnen
Els De Leenheer
Paul Coucke
Ingeborg Dhooge
C3
Conference
2012
Audiologic and genetic determination of hearing loss in osteogenesis imperfecta
Freya Swinnen
Ingeborg Dhooge
Paul Coucke
Dissertation
2012
Audiologic phenotype of osteogenesis imperfecta: use in clinical differentiation
Freya Swinnen
Ingeborg Dhooge
Paul Coucke
Els De Leenheer
A1
Journal Article
in
OTOLOGY & NEUROTOLOGY
2012
Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis
Marjolijn Renard
Paul Coucke
Fransiska Malfait
Anne De Paepe
A1
Journal Article
in
ORPHANET JOURNAL OF RARE DISEASES
2012
Comprehensive characterization of LEDGF/p75 in a HIV-1 infected patient cohort
Peter Messiaen
Ward De Spiegelaere
Paul Coucke
Petra Van Acker
Bruno Verhasselt
Bruce Poppe
Dirk Vogelaers
Chris Verhofstede
Linos Vandekerckhove
C3
Conference
2012
Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria
Sofie Symoens
Delfien Syx
Fransiska Malfait
Bert Callewaert
Julie De Backer
Olivier Vanakker
Paul Coucke
Anne De Paepe
A1
Journal Article
in
HUMAN MUTATION
2012
Development of a novel COL3A1 transgenic mouse model for vascular Ehlers Danlos Syndrome
Yike Kang
Sofie Symoens
Fransiska Malfait
Paul Coucke
Marjolijn Renard
Brecht Guillemyn
Julie De Backer
Filipe Branco Madeira
Wendy Toussaint
Leen Vanhoutte
Sophie Janssens
Benedicte Descamps
Christian Vanhove
Patrick Segers
Bart Lambrecht
Anne De Paepe
C3
Conference
2012
Erfelijke vormen van thoracale aorta-aneurysma's en -dissecties : diagnostiek en beleid
Anne De Paepe
Bert Callewaert
Laurence Campens
Paul Coucke
Fransiska Malfait
Marjolijn Renard
Olivier Vanakker
Julie De Backer
Katrien Francois
Thierry Bové
Daniël De Wolf
Katya De Groote
Joseph Panzer
Kristof Vandekerckhove
Frank Vermassen
Isabelle Van Herzeele
Daniel Devos
A2
Journal Article
in
TIJDSCHRIFT VOOR GENEESKUNDE
2012
GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling
Andy Willaert
Bert Callewaert
Paul Coucke
Anne De Paepe
A1
Journal Article
in
HUMAN MOLECULAR GENETICS
2012
Methotrexate in children with acute lymphoblastic leukaemia : impact of pharmacogenetic polymorphisms on plasma concentration, toxicity and outcome
Liesbeth Huys
Paul Coucke
Yves Benoit
Tieneke Bauters
Barbara De Moerloose
C3
Conference
2012
Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform
Sarah De Keulenaer
Jan Hellemans
Steve Lefever
Jean-Pierre Renard
Joachim De Schrijver
Hendrik Van de Voorde
Filip Van Nieuwerburgh
Daisy Flamez
Filip Pattyn
Bieke Scharlaken
Dieter Deforce
Sofie Bekaert
Wim Van Criekinge
Jo Vandesompele
Paul Coucke
A1
Journal Article
in
BMC MEDICAL GENOMICS
2012
Mutation-based growth charts for SEDC and other COL2A1 related dysplasias
Paul Coucke
Geert Mortier
A1
Journal Article
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
2012
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome
Bart Loeys
Julie De Backer
Paul Coucke
Anne De Paepe
A1
Journal Article
in
JOURNAL OF MEDICAL GENETICS
2012
Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation
Paul Coucke
Geert Mortier
A1
Journal Article
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2012
Stapes surgery in osteogenesis imperfecta: retrospective analysis of 34 operated ears
Freya Swinnen
Els De Leenheer
Paul Coucke
Ingeborg Dhooge
A1
Journal Article
in
AUDIOLOGY AND NEURO-OTOLOGY
2012
Study of the role of type V collagen in heritable connective tissue diseases
Sofie Symoens
Anne De Paepe
Paul Coucke
Dissertation
2012
Temporal bone imaging in osteogenesis imperfecta patients with hearing loss
Freya Swinnen
Jan Casselman
Paul Coucke
Els De Leenheer
Ingeborg Dhooge
C3
Conference
2012
The Ghent Marfan trial: a randomized, double-blind placebo controlled trial with losartan in Marfan patients treated with β-blockers
Sylvia De Nobele
Daniel Devos
Els Goetghebeur
Patrick Segers
Bram Trachet
Chris Vervaet
Marjolijn Renard
Paul Coucke
Bart Loeys
Anne De Paepe
Julie De Backer
A1
Journal Article
in
INTERNATIONAL JOURNAL OF CARDIOLOGY
2012
The new Ghent criteria for Marfan syndrome: what do they change ?
Bert Callewaert
Bart Loeys
Julie De Backer
Paul Coucke
Anne De Paepe
A1
Journal Article
in
CLINICAL GENETICS
2012
Translational impact of VEGFA variants on the prediction and follow-up of ocular complications in pseudoxanthoma elasticum
Eva De Vilder
Mohammad Jakir Hosen
Bart Leroy
Paul Coucke
Anne De Paepe
Olivier Vanakker
C3
Conference
2012
Translational impact of VEGFA variants on the prediction and follow-up of ocular complications in pseudoxanthoma elasticum
Eva De Vilder
Mohammad Jakir Hosen
Bart Leroy
Paul Coucke
Anne De Paepe
Olivier Vanakker
C3
Conference
2012
2011
Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes
Machteld Baetens
Lut Van Laer
Kim De Leeneer
Jan Hellemans
Joachim De Schrijver
Hendrik Van de Voorde
Marjolijn Renard
Björn Menten
Wim Van Criekinge
Julie De Backer
Anne De Paepe
Bart Loeys
Paul Coucke
A1
Journal Article
in
HUMAN MUTATION
2011
Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa : evidence for a spectrum of ectopic calcification disorders?
Olivier Vanakker
Bart Leroy
Paul Coucke
Anne De Paepe
A1
Journal Article
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2011
Comprehensive characterization of LEDGF/p75 in a HIV-1-infected patient cohort
Peter Messiaen
Ward De Spiegelaere
Chris Verhofstede
Paul Coucke
Petra Van Acker
Philip Vlummens
Dirk Vogelaers
Bruce Poppe
Linos Vandekerckhove
C3
Conference
2011
Functional polymorphism in gamma-glutamylcarboxylase is a risk factor for severe neonatal hemorrhage
Olivier Vanakker
Kris De Coen
Laura Costrop
Paul Coucke
Piet Vanhaesebrouck
Anne De Paepe
A1
Journal Article
in
JOURNAL OF PEDIATRICS
2011
Identification of binding partners interacting with the α1-N-propeptide of type V collagen
Sofie Symoens
Marjolijn Renard
Delfien Syx
Fransiska Malfait
Paul Coucke
Anne De Paepe
A1
Journal Article
in
BIOCHEMICAL JOURNAL
2011
Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations
Kim De Leeneer
Jan Hellemans
Joachim De Schrijver
Machteld Baetens
Bruce Poppe
Wim Van Criekinge
Anne De Paepe
Paul Coucke
Kathleen Claes
A1
Journal Article
in
HUMAN MUTATION
2011
New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations
Bert Callewaert
Marjolijn Renard
Bart Loeys
Paul Coucke
Anne De Paepe
A1
Journal Article
in
HUMAN MUTATION
2011
Osteogenesis imperfecta: the audiologic phenotype lacks correlation with the genotype
Freya Swinnen
Paul Coucke
Anne De Paepe
Sofie Symoens
Fransiska Malfait
Ingeborg Dhooge
Els De Leenheer
C3
Conference
2011
Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype
Freya Swinnen
Paul Coucke
Anne De Paepe
Sofie Symoens
Fransiska Malfait
Ingeborg Dhooge
Els De Leenheer
A1
Journal Article
in
ORPHANET JOURNAL OF RARE DISEASES
2011
Practical tools to implement massive parallel pyrosequencing of PCR products in next generation molecular diagnostics
Kim De Leeneer
Joachim De Schrijver
Lieven Clement
Machteld Baetens
Steve Lefever
Sarah De Keulenaer
Wim Van Criekinge
Dieter Deforce
Filip Van Nieuwerburgh
Sofie Bekaert
Filip Pattyn
Bram De Wilde
Paul Coucke
Jo Vandesompele
Kathleen Claes
Jan Hellemans
A1
Journal Article
in
PLOS ONE
2011
Stapes surgery in osteogenesis imperfecta: retrospective analysis of 34 operated ears
Freya Swinnen
Els De Leenheer
Paul Coucke
Ingeborg Dhooge
C3
Conference
2011
2010
Added value of infrared, red-free and autofluorescence fundus imaging in Pseudoxanthoma elasticum
Julie De Zaeytijd
Olivier Vanakker
Paul Coucke
Anne De Paepe
Jean Delaey
Bart Leroy
A1
Journal Article
in
BRITISH JOURNAL OF OPHTHALMOLOGY
2010
Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency
Marjolijn Renard
Bert Callewaert
Paul Coucke
Anne De Paepe
Bart Loeys
A1
Journal Article
in
EUROPEAN JOURNAL OF HUMAN GENETICS
2010
Analysing 454 amplicon resequencing experiments using the modular and database oriented Variant Identification Pipeline
Joachim De Schrijver
Kim De Leeneer
Steve Lefever
Nick Sabbe
Filip Pattyn
Filip Van Nieuwerburgh
Paul Coucke
Dieter Deforce
Jo Vandesompele
Sofie Bekaert
Jan Hellemans
Wim Van Criekinge
A1
Journal Article
in
BMC BIOINFORMATICS
2010
Cytogenetic and Array-CGH Characterization of a 6q27 Deletion in a Patient With Developmental Delay and Features of Ehlers-Danlos Syndrome
Anne De Paepe
Paul Coucke
A1
Journal Article
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2010
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes
Frauke Coppieters
Sarah De Jaegere
Sally Hooghe
Paul Coucke
Johan Vande Walle
Bart Leroy
Elfride De Baere
A1
Journal Article
in
HUMAN MUTATION
2010
Het Marfansyndroom : een paradigma voor de studie van aorta-aneurysma's
Julie De Backer
Marjolijn Renard
Paul Coucke
Lut Van Laer
Anne De Paepe
Bart Loeys
A2
Journal Article
in
TIJDSCHRIFT VOOR GENEESKUNDE
2010
Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome
Olivier Vanakker
Laura Costrop
Paul Coucke
Anne De Paepe
A1
Journal Article
in
LABORATORY INVESTIGATION
2010
Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome
Bart Loeys
Paul Coucke
Anne De Paepe
A1
Journal Article
in
SCIENCE TRANSLATIONAL MEDICINE
2010
Next generation sequencing: (r)evolutie in DNA sequenering en haar rol in de moderne geneeskunde
Jan Hellemans
Sofie Bekaert
Jo Vandesompele
Paul Coucke
Anne De Paepe
A2
Journal Article
in
TIJDSCHRIFT VOOR GENEESKUNDE
2010
Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region
Laura Costrop
Olivier Vanakker
Lut Van Laer
Olivier Le Saux
Paul Coucke
Anne De Paepe
A1
Journal Article
in
JOURNAL OF HUMAN GENETICS
2010
Short stature, severe aortic root dilation, skin hyperextensibility, extreme joint laxity and craniofacial dysmorphic features: a probable new syndrome
Sofie Symoens
Marjolijn Renard
Bert Callewaert
Julie De Backer
Fransiska Malfait
Paul Coucke
Anne De Paepe
Bart Loeys
A1
Journal Article
in
CLINICAL DYSMORPHOLOGY
2010
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients
Kristien Hoornaert
Inge Vereecke
Chantal Dewinter
Juliaan Leroy
Elisabeth Van Aken
Anne De Paepe
Bart Leroy
Marc De Buyzere
Paul Coucke
Geert Mortier
A1
Journal Article
in
EUROPEAN JOURNAL OF HUMAN GENETICS
2010
2009
Anomalies leading to the mineralization of elastic fibers in pseudoxanthoma elasticum and the PXE-like syndrome
Olivier Vanakker
Paul Coucke
Anne De Paepe
C3
Conference
2009
Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta
Freya Swinnen
Els De Leenheer
Paul Coucke
Ingeborg Dhooge
A1
Journal Article
in
LARYNGOSCOPE
2009
COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome
Sofie Symoens
Fransiska Malfait
Marjolijn Renard
Bart Loeys
Paul Coucke
Anne De Paepe
A1
Journal Article
in
HUMAN MUTATION
2009
Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations
Bert Callewaert
Bart Loeys
Julie De Backer
Paul Coucke
Anne De Paepe
A1
Journal Article
in
PEDIATRICS
2009
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation
Bert Callewaert
Bart Loeys
Julie De Backer
Paul Coucke
Anne De Paepe
A1
Journal Article
in
European Journal of Human Genetics
2009
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature
Bert Callewaert
Bart Loeys
Julie De Backer
Paul Coucke
Anne De Paepe
A1
Journal Article
in
HUMAN MUTATION
2009
Pathogenic FBN1 Mutations in 146 Adults Not Meeting Clinical Diagnostic Criteria for Marfan Syndrome: Further Delineation of Type 1 Fibrillinopathies and Focus on Patients With an Isolated Major Criterion
Bert Callewaert
Bart Loeys
Julie De Backer
Paul Coucke
Anne De Paepe
A1
Journal Article
in
American Journal of Medical Genetics Part A
2009
Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation
Andy Willaert
Fransiska Malfait
Sofie Symoens
Kris Gevaert
Geert Mortier
Paul Coucke
Anne De Paepe
A1
Journal Article
in
JOURNAL OF MEDICAL GENETICS
2009
2008
A Hotspot Splicing Mutation in LEPREI Affects Prolyl 3-hydroxylation and Causes Recessive Osteogenesis Imperfecta
Andy Willaert
Sofie Symoens
Fransiska Malfait
Kris Gevaert
Paul Coucke
Anne De Paepe
C3
Conference
2008
A genome-wide linkage scan for low spinal bone mineral density in a single extended family confirms linkage to 1p36.3
Andy Willaert
Inge Van Pottelbergh
Hans-Georg Zmierczak
Stefan Goemaere
Jean Kaufman
Anne De Paepe
Paul Coucke
A1
Journal Article
in
EUROPEAN JOURNAL OF HUMAN GENETICS
2008
A hotspot splicing mutation in LEPREI affects prolyl 3-hydroxylation and causes recessive osteogenesis imperfecta
Fransiska Malfait
Andy Willaert
Sofie Symoens
Paul Coucke
Anne De Paepe
C3
Conference
2008
Absence of arterial phenotype in mice with homozygous slc2A10 missense substitutions
Bert Callewaert
Bart Loeys
Christophe Casteleyn
Andy Willaert
Pieter Dewint
Julie De Backer
Paul Simoens
Anne De Paepe
Paul Coucke
A1
Journal Article
in
GENESIS
2008
Arterial tortuosity syndrome: Clinical and molecular findings in 12 newly identified families
Bert Callewaert
Andy Willaert
Julie De Backer
Renée Dekens
Bart Loeys
Paul Coucke
Anne De Paepe
A1
Journal Article
in
HUMAN MUTATION
2008
Audiologic and genetic characterization of hearing loss in Osteogenesis Imperfecta
Freya Swinnen
Els De Leenheer
Stefan Goemaere
Anne De Paepe
Paul Coucke
Ingeborg Dhooge
C3
Conference
2008
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands
Bert Callewaert
Bart Loeys
Julie De Backer
Paul Coucke
Anne De Paepe
A1
Journal Article
in
JOURNAL OF MEDICAL GENETICS
2008
Discovery of genes in thoracic aortic aneurysms
Paul Coucke
Bart Loeys
Bert Callewaert
Anne De Paepe
Bookchapter
in
Aortic aneurysms : new insights into an old problem
2008
Genotype and phenotype of Stickler syndrome caused by mutations in the COL2A1 gene
Kristien Hoornaert
Chantal Dewinter
Inge Vereecke
Paul Coucke
Geert Mortier
A2
Journal Article
in
EUROPEAN JOURNAL OF HUMAN GENETICS
2008
Management of hearing loss: surgery (incudostapedotomy and malleostapedotomy) and outcome of the procedure
Freya Swinnen
Els De Leenheer
Paul Coucke
Ingeborg Dhooge
C1
Conference
2008
Novel clinico-molecular insights in Pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart
Olivier Vanakker
Bart Leroy
Paul Coucke
Petra Van Acker
Dirk Matthys
Bart Loeys
Anne De Paepe
A2
Journal Article
in
HUMAN MUTATION
2008
2007
Arteriële tortuositeit door fout in glucosetransporter
Anne De Paepe
Paul Coucke
Bart Loeys
A4
Journal Article
in
Agenda voor de Cardiologie
2007
COL2A1-related skeletal dysplasias with predominant metaphyseal involvement
Paul Coucke
Geert Mortier
A1
Journal Article
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2007
Consortium for osteogeneslis imperfecta mutations in the helical domain of type I collagen: Regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans
Anne De Paepe
Paul Coucke
Sofie Symoens
A1
Journal Article
in
HUMAN MUTATION
2007
Czech dysplasia metatarsal type: another type II collagen disorder
Kristien Hoornaert
Juliaan Leroy
Paul Coucke
Geert Mortier
A1
Journal Article
in
EUROPEAN JOURNAL OF HUMAN GENETICS
2007
Een Belgische patiënt met Arterial Tortuosity Syndrome
Bert Callewaert
Bart Loeys
Julie De Backer
Andy Willaert
Paul Coucke
Anne De Paepe
A2
Journal Article
in
TIJDSCHRIFT VAN DE BELGISCHE KINDERARTS = JOURNAL DU PEDIATRE BELGE
2007
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study
Bart Loeys
Bert Callewaert
Julie De Backer
Paul Coucke
Anne De Paepe
A1
Journal Article
in
AMERICAN JOURNAL OF HUMAN GENETICS
2007
Mutation detection in the ABCC6 gene and analysis in a large international cohort affected by pseudoxanthoma elasticum
Paul Coucke
Olivier Vanakker
Anne De Paepe
C3
Conference
2007
Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum
Olivier Vanakker
Paul Coucke
Anne De Paepe
A1
Journal Article
in
JOURNAL OF MEDICAL GENETICS
2007
Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?
Olivier Vanakker
Bart Leroy
Paul Coucke
Anne De Paepe
A1
Journal Article
in
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
2007
Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity
Olivier Vanakker
Bart Leroy
Bart Loeys
Dirk Matthys
Paul Coucke
Anne De Paepe
A1
Journal Article
in
JOURNAL OF INVESTIGATIVE DERMATOLOGY
2007
Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa
Frauke Coppieters
Bart Leroy
Diane Beysen
Jan Hellemans
Karolien De Bosscher
Guy Haegeman
Paul Coucke
Elfride De Baere
A1
Journal Article
in
AMERICAN JOURNAL OF HUMAN GENETICS
2007
Three arginine to cysteine substitutions 4 in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood
Fransiska Malfait
Sofie Symoens
Julie De Backer
Paul Coucke
Anne De Paepe
A1
Journal Article
in
HUMAN MUTATION
2007
Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome
Julie De Backer
Bart Loeys
Bart Leroy
Paul Coucke
Anne De Paepe
A1
Journal Article
in
CLINICAL GENETICS
2007
2006
Aneurysm syndromes caused by mutations in the TGF-beta receptor
Bart Loeys
Bert Callewaert
Julie De Backer
Paul Coucke
Anne De Paepe
A1
Journal Article
in
NEW ENGLAND JOURNAL OF MEDICINE
2006
EDS/OI caused by collagen type I mutations
Sofie Symoens
Yves Vander Haeghen
Jean Naeyaert
Paul Coucke
Anne De Paepe
C3
Conference
2006
Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa
Bart Loeys
Paul Coucke
Anne De Paepe
A1
Journal Article
in
HUMAN MOLECULAR GENETICS
2006
Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis
Jan Hellemans
Peter Verdonk
Anne De Paepe
Paul Coucke
Geert Mortier
A2
Journal Article
in
HUMAN MUTATION
2006
Mutation analysis in the FBN1 gene in patients with Marfan Syndrome
Paul Coucke
Petra Van Acker
Anne De Paepe
Bookchapter
in
Congenital Heart Diseases
2006
Mutation analysis of the FBN1 gene in patients with Marfan syndrome
Paul Coucke
Petra Van Acker
Anne De Paepe
A4
Journal Article
in
METHODS IN MOLECULAR MEDICINE
2006
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome
Paul Coucke
Andy Willaert
Bert Callewaert
Julie De Backer
Bart Loeys
Anne De Paepe
A1
Journal Article
in
NATURE GENETICS
2006
The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene
Kristien Hoornaert
Chantal Dewinter
Inge Vereecke
Anne De Paepe
Paul Coucke
Geert Mortier
A1
Journal Article
in
JOURNAL OF MEDICAL GENETICS
2006
Total absence of the alpha 2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems
Fransiska Malfait
Sofie Symoens
Paul Coucke
Anne De Paepe
A1
Journal Article
in
JOURNAL OF MEDICAL GENETICS
2006
Variability of aortic stiffness is not associated with the fibrillin 1 genotype in patients with Marfan's syndrome
Julie De Backer
Daniel Devos
Paul Coucke
Koenraad Verstraete
Anne De Paepe
Editorial material
2006
Visceral and testicular calcifications as part of the phenotype in pseudoxanthoma elasticum: ultrasound findings in Belgian patients and healthy carriers
Olivier Vanakker
Dirk Voet
Mirko Petrovic
Bart Leroy
Paul Coucke
Anne De Paepe
A1
Journal Article
in
BRITISH JOURNAL OF RADIOLOGY
2006
2005
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
Bart Loeys
Julie De Backer
Jan Hellemans
Paul Coucke
Anne De Paepe
A1
Journal Article
in
NATURE GENETICS
2005
Aortic aneurysm, short stature and eye anomalies: expanding the phenotype of fibrillin-1 disorders
Julie De Backer
Paul Coucke
Anne De Paepe
C3
Conference
2005
CARD15 polymorphisms are associated with anti-Saccharomyces cerevisiae antibodies in caucasian Crohn's disease patients
Bert Vander Cruyssen
Harald Peeters
Ilse Hoffman
Debby Laukens
Paul Coucke
Claude Cuvelier
Erik Remaut
Eric Veys
Herman Mielants
Martine De Vos
Filip De Keyser
A1
Journal Article
in
CLINICAL AND EXPERIMENTAL IMMUNOLOGY
2005
Defective protein glycosylation in patients with cutis laxa syndrome
Paul Coucke
A1
Journal Article
in
EUROPEAN JOURNAL OF HUMAN GENETICS
2005
Loeys-Dietz syndrome: a new aortic aneurysm syndrome with an aggressive clinical course and widespread vascular involvement
Julie De Backer
Bart Loeys
Paul Coucke
Anne De Paepe
C3
Conference
2005
Missense mutations in LRP5 are not a common cause of idiopathic osteoporosis in adult men
Patricia Crabbe
Andy Willaert
Paul Coucke
Stefan Goemaere
Anne De Paepe
Jean Kaufman
A1
Journal Article
in
JOURNAL OF BONE AND MINERAL RESEARCH
2005
Mutation analysis of the FBN1 gene in individuals with Marfan syndrome: sensitivity, methods, clinical indications
Anne De Paepe
Bart Loeys
Paul Coucke
Bookchapter
in
Marfan Syndrome : a primer for clinicians and scientists
2005
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin
Jan Hellemans
Paul Coucke
Anne De Paepe
A1
Journal Article
in
NATURE GENETICS
2005
The molecular basis of classic Ehlers-Danlos syndrome: A comprehensive study of biochemical and molecular findings in 48 unrelated patients
Fransiska Malfait
Paul Coucke
Sofie Symoens
Bart Loeys
Lieve Nuytinck
Anne De Paepe
A1
Journal Article
in
HUMAN MUTATION
2005
2004
Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome
Bart Loeys
Julie De Backer
Petra Van Acker
Karen Wettinck
Lieve Nuytinck
Paul Coucke
Anne De Paepe
A1
Journal Article
in
HUMAN MUTATION
2004
DUP25 remains unconfirmed
Stefan Vermeulen
Björn Menten
Sylvia De Bie
Paul Coucke
Fransiska Malfait
Julie De Backer
Franki Speleman
Anne De Paepe
A1
Journal Article
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2004
Ehlers-Danlos syndrome
Fransiska Malfait
Paul Coucke
Anne De Paepe
Bookchapter
in
Encyclopedia of medical genomics and proteomics
2004
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis
Jan Hellemans
Andy Willaert
Björn Menten
Nadine Van Roy
Stefan Vermeulen
Anne De Paepe
Jean Naeyaert
Jo Vandesompele
Franki Speleman
Paul Coucke
Geert Mortier
A1
Journal Article
in
NATURE GENETICS
2004
Met > Val substitution in a highly conserved region of the pro-alpha 1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotype
Sofie Symoens
Lieve Nuytinck
Fransiska Malfait
Paul Coucke
Anne De Paepe
A1
Journal Article
in
JOURNAL OF MEDICAL GENETICS
2004
Mutation analysis of the LRP5 gene in men with idiopathic osteoporosis
Andy Willaert
Paul Coucke
Anne De Paepe
C3
Conference
2004
Radiological sacroiliitis, a hallmark of spondylitis, is linked with CARD15 gene polymorphisms in patients with Crohn's disease
Harald Peeters
Bert Vander Cruyssen
Debby Laukens
Paul Coucke
Claude Cuvelier
Erik Remaut
Herman Mielants
Filip De Keyser
Martine De Vos
A1
Journal Article
in
ANNALS OF THE RHEUMATIC DISEASES
2004
Recurrence of achondrogenesis type II within the same family: Evidence for germline mosaicism
Paul Coucke
Geert Mortier
A1
Journal Article
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2004
Three new families with arterial tortuosity syndrome
Paul Coucke
Anne De Paepe
A1
Journal Article
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2004
2003
Homozygosity mapping of a gene for arterial tortuosity snydrome
Paul Coucke
Petra Van Acker
Anne De Paepe
C3
Conference
2003
Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13
Paul Coucke
Petra Van Acker
Anne De Paepe
A1
Journal Article
in
JOURNAL OF MEDICAL GENETICS
2003
Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone- shaped epiphyses in hands and hips
Jan Hellemans
Paul Coucke
Anne De Paepe
Geert Mortier
A1
Journal Article
in
AMERICAN JOURNAL OF HUMAN GENETICS
2003
2002
A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment.
Paul Coucke
A1
Journal Article
in
HUMAN MUTATION
2002
A non-glycine mutation in the C-propeptide of the alpha1(I) collagen chain causes mild Osteogenesis imperfecta and EDS-like features
Sofie Symoens
Lieve Nuytinck
Paul Coucke
Bart Loeys
Anne De Paepe
C3
Conference
2002
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.
Bart Loeys
Geert Mortier
Paul Coucke
Jean Naeyaert
Anne De Paepe
A1
Journal Article
in
HUMAN MOLECULAR GENETICS
2002
Longitudinal and cross-sectional phenotype analysis in a new, large dutch DFNA2/KCNQ4 family.
Paul Coucke
A1
Journal Article
in
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY
2002
2001
A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment
Lut Van Laer
Paul Coucke
A1
Journal Article
in
JOURNAL OF MEDICAL GENETICS
2001
2000
DFNA 2, 5, 8, 12
Paul Coucke
Lut Van Laer
Bookchapter
in
Genetics in Otolaryngology
2000
Identification of a new connexin gene GJA11 (Cx59) using degenerate PCR primers
Paul Coucke
Lut Van Laer
A2
Journal Article
in
Genescreen
2000
1998
Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment
Lut Van Laer
Paul Coucke
A1
Journal Article
in
NATURE GENETICS
1998
1997
Refined mapping of a gene for autosomal dominant progressive sensorineural hearing loss (DFNA5) to a 2-cM region, and exclusion of a candidate gene that is expressed in the cochlea
Lut Van Laer
Paul Coucke
A1
Journal Article
in
EUROPEAN JOURNAL OF HUMAN GENETICS
1997
1995
LOCALIZATION OF A GENE FOR NON-SYNDROMIC HEARING-LOSS (DFNA5) TO CHROMOSOME 7P15
Paul Coucke
Lut Van Laer
A1
Journal Article
in
HUMAN MOLECULAR GENETICS
1995
THE GENE FOR HUMAN GAP JUNCTION PROTEIN CONNEXIN37 (GJA4) MAPS TO CHROMOSOME 1P35.1, IN THE VICINITY OF D1S195.
Paul Coucke
Franki Speleman
Nadine Van Roy
A1
Journal Article
in
GENOMICS
1995
1991
Assignment of the fucosidase pseudogene FUCA1P to chromosome region 2q31→q32
Paul Coucke
Franki Speleman
Patric Van Oostveldt
A1
Journal Article
in
CYTOGENETICS AND CELL GENETICS
1991