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Onderzoeker
Bart Leroy
Profiel
Projecten
Publicaties
Activiteiten
269
Resultaten
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
Artikel in een tijdschrift
in
JOURNAL OF MEDICAL GENETICS
2022
X-linked Retinoschisis : novel clinical observations and genetic spectrum in 340 patients
Leo C. Hahn
Mary J. van Schooneveld
Nieneke L. Wesseling
Ralph J. Florijn
Jacoline B. ten Brink
Birgit I. Lissenberg-Witte
Ine Strubbe
Magda A. Meester-Smoor
Alberta A. Thiadens
Roselie M. Diederen
Caroline Van Cauwenbergh
Julie De Zaeytijd
SOPHIE WALRAEDT
Elfride De Baere
Caroline C. W. Klaver
Jeannette Ossewaarde-van Norel
L. Ingeborgh van den Born
Carel B. Hoyng
Maria M. van Genderen
Paul A. Sieving
Bart Leroy
Arthur A. Bergen
Camiel Boon
A1
Artikel in een tijdschrift
in
OPHTHALMOLOGY
2022
2021
A Virtual Reality Orientation and Mobility Test for Inherited Retinal Degenerations: Testing a Proof-of-Concept After Gene Therapy
Tomas S. Aleman
Alexander J. Miller
Katherine H. Maguire
Elena M. Aleman
Leona W. Serrano
Keli B. O'Connor
Emma C. Bedoukian
Bart Leroy
Albert M. Maguire
Jean Bennett
Artikel in een tijdschrift
in
CLINICAL OPHTHALMOLOGY
2021
A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings
Marlies Saelaert
Heidi Mertes
Tania Moerenhout
Caroline Van Cauwenbergh
Bart Leroy
Ignaas Devisch
Elfride De Baere
A1
Artikel in een tijdschrift
in
SCIENTIFIC REPORTS
2021
CRB1-associated retinal dystrophies in a Belgian cohort : genetic characteristics and long-term clinical follow-up
Mays Talib
Caroline Van Cauwenbergh
Julie De Zaeytijd
David Van Wynsberghe
Elfride De Baere
Camiel J F Boon
Bart Leroy
A1
Artikel in een tijdschrift
in
BRITISH JOURNAL OF OPHTHALMOLOGY
2021
Comparative natural history of visual function from patients with biallelic variants in BBS1 and BBS10
Monika K. Grudzinska Pechhacker
Samuel G. Jacobson
V Drack, Arlene
Matteo Di Scipio
Ine Strubbe
Wanda Pfeifer
Jacque L. Duncan
Helene Dollfus
Nathalie Goetz
Jean Muller
Andrea L. Vincent
Tomas S. Aleman
Anupreet Tumber
Caroline Van Cauwenbergh
Elfride De Baere
Emma Bedoukian
Bart Leroy
Jason T. Maynes
Francis L. Munier
Erika Tavares
Eman Saleh
Ajoy Vincent
Elise Heon
A1
Artikel in een tijdschrift
in
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
2021
Expanding the clinical spectrum and management of traboulsi syndrome : report on two siblings homozygous for a novel pathogenic variant in ASPH
Tom Van Hoorde
Fanny Nerinckx
Elke O. Kreps
Dimitri Roels
Philippe Huyghe
Mattias Van Heetvelde
Hannah Verdin
Elfride De Baere
Irina Balikova
Bart Leroy
A1
Artikel in een tijdschrift
in
OPHTHALMIC GENETICS
2021
Explaining disease variability in Pseudoxanthoma elasticum and related disorders
Eva De Vilder
Olivier Vanakker
Bart Leroy
Proefschrift
2021
Isolated maculopathy and moderate rod-cone dystrophy represent the milder end of the RDH12-related retinal dystrophy spectrum
Julie De Zaeytijd
Caroline Van Cauwenbergh
Marieke De Bruyne
Mattias Van Heetvelde
Elfride De Baere
Frauke Coppieters
Bart Leroy
A1
Artikel in een tijdschrift
in
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES
2021
Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C > A p.(Pro188Thr) in the C1QTNF5 gene
Julie De Zaeytijd
Frauke Coppieters
Marieke De Bruyne
Jasper Van Royen
Dimitri Roels
Rani Six
Caroline Van Cauwenbergh
Elfride De Baere
Bart Leroy
A1
Artikel in een tijdschrift
in
OPHTHALMIC GENETICS
2021
Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the MT-ND6 gene
Justine Vandeputte
Mattias Van Heetvelde
Caroline Van Cauwenbergh
Sara Seneca
Elfride De Baere
Bart Leroy
Julie De Zaeytijd
A1
Artikel in een tijdschrift
in
OPHTHALMIC GENETICS
2021
New variants and in silico analyses in GRK1 associated Oguchi disease
James A. Poulter
Molly S. C. Gravett
Rachel L. Taylor
Kaoru Fujinami
Julie De Zaeytijd
James Bellingham
Atta Ur Rehman
Takaaki Hayashi
Mineo Kondo
Abdur Rehman
Muhammad Ansar
Dan Donnelly
Carmel Toomes
Manir Ali
Elfride De Baere
Bart Leroy
Nigel P. Davies
Robert H. Henderson
Andrew R. Webster
Carlo Rivolta
Omar A. Mahroo
Gavin Arno
Graeme C. M. Black
Martin McKibbin
Sarah A. Harris
Kamron N. Khan
Chris F. Inglehearn
[missing] UK Inherited Retinal Disease Consortium, Genomics England Research Consortium
A1
Artikel in een tijdschrift
in
HUMAN MUTATION
2021
Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant
Ine Strubbe
Caroline Van Cauwenbergh
Julie De Zaeytijd
Sarah De Jaegere
Marieke De Bruyne
Toon Rosseel
Stijn Van de Sompele
Elfride De Baere
Bart Leroy
A1
Artikel in een tijdschrift
in
SCIENTIFIC REPORTS
2021
The corneoscleral shape in Marfan syndrome
Eva Vanhonsebrouck
Alejandra Consejo
Paul Coucke
Bart Leroy
Elke O. Kreps
A1
Artikel in een tijdschrift
in
ACTA OPHTHALMOLOGICA
2021
The need for widely available genomic testing in rare eye diseases : an ERN-EYE position statement
Graeme C. Black
[missing] ERN-EYE study group
Panagiotis Sergouniotis
Andrea Sodi
Bart Leroy
Caroline Van Cauwenbergh
Petra Liskova
Karen Grønskov
Artur Klett
Susanne Kohl
Gita Taurina
Marius Sukys
Lonneke Haer-Wigman
Katarzyna Nowomiejska
João Pedro Marques
Dorothée Leroux
Frans P. M. Cremers
Elfride De Baere
Hélène Dollfus
A1
Artikel in een tijdschrift
in
ORPHANET JOURNAL OF RARE DISEASES
2021
The phenotypic spectrum of patients with PHARC syndrome due to variants in ABHD12 : an ophthalmic perspective
Xuan-Thanh-An Nguyen
Hind Almushattat
Ine Strubbe
Michalis Georgiou
Catherina H. Z. Li
Mary J. van Schooneveld
Inge Joniau
Elfride De Baere
Ralph J. Florijn
Arthur A. Bergen
Carel B. Hoyng
Michel Michaelides
Bart Leroy
Camiel J. F. Boon
A1
Artikel in een tijdschrift
in
GENES
2021
2020
Exome-based panel testing as an efficient method to diagnose the highly heterogeneous ocular disorder spectrum Microphthalmia, Anophthalmia, Coloboma and Anterior Segment Dysgenesis (MAC-ASD)
Hannah Verdin
Toon Rosseel
Sascha Vermeer
Irina Balikova
Philippe Kestelyn
Colombine Meunier
Françoise Meire
Julie Van De Velde
Olivier Vanakker
Jenneke Van Den Ende
Marjan De Rademaeker
Marije Meuwissen
Meindert Jan De Vries
Yves Sznajer
Matthias Desmet
Tom Sante
Frauke Coppieters
Bart Leroy
Elfride De Baere
C3
Conferentie
2020
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy
Miriam Bauwens
Stephan Storch
Nicole Weisschuh
Chantal Ceuterick-de Groote
Riet De Rycke
Brecht Guillemyn
Sarah De Jaegere
Frauke Coppieters
Rudy Van Coster
Bart Leroy
Elfride De Baere
A1
Artikel in een tijdschrift
in
CLINICAL GENETICS
2020
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss and reduced male fertility
Giulia Ascari
Frank Peelman
Pietro Farinelli
Toon Rosseel
Nina Lambrechts
Kirsten A. Wunderlich
Matias Wagner
Konstantinos Nikopoulos
Pernille Martens
Irina Balikova
Lara Derycke
Gabriële Holtappels
Olga Krysko
Thalia Van Laethem
Sarah De Jaegere
Brecht Guillemyn
Riet De Rycke
Jan De Bleecker
David Creytens
Jo Van Dorpe
Jan Gerris
Claus Bachert
Christiane Neuhofer
SOPHIE WALRAEDT
Almut Bischoff
Lotte B. Pedersen
Thomas Klopstock
Carlo Rivolta
Bart Leroy
Elfride De Baere
Frauke Coppieters
A1
Artikel in een tijdschrift
in
HUMAN MUTATION
2020
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56
Basamat Almoallem Mohammed
Gavin Arno
Julie De Zaeytijd
Hannah Verdin
Irina Balikova
Ingele Casteels
Thomy de Ravel
Sarah Hull
Martina Suzani
Anne Destrée
Michelle Peng
Denise Williams
John R. Ainsworth
Andrew R. Webster
Bart Leroy
Anthony T. Moore
Elfride De Baere
A1
Artikel in een tijdschrift
in
SCIENTIFIC REPORTS
2020
VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum
Eva De Vilder
Mohammad Jakir Hosen
Ludovic Martin
Julie De Zaeytijd
Bart Leroy
Jean-Marc Ebran
Paul Coucke
Anne De Paepe
Olivier Vanakker
A1
Artikel in een tijdschrift
in
CLINICAL GENETICS
2020
Vitreous hemorrhage as presenting sign of retinal arteriovenous malformation
Geraldine Accou
Fanny Nerinckx
Bart Leroy
Julie De Zaeytijd
A2
Artikel in een tijdschrift
in
CASE REPORTS IN OPHTHALMOLOGICAL MEDICINE
2020
2019
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants
Miriam Bauwens
Alejandro Garanto
Riccardo Sangermano
Sarah Naessens
Nicole Weisschuh
Julie De Zaeytijd
Mubeen Khan
Françoise Sadler
Irina Balikova
Caroline Van Cauwenbergh
Toon Rosseel
Jim Bauwens
Kim De Leeneer
Sarah De Jaegere
Thalia Van Laethem
Meindert De Vries
Keren Carss
Gavin Arno
Ana Fakin
Andrew R Webster
Thomy JL de Ravel de L'Argentière
Yves Sznajer
Marnik Vuylsteke
Susanne Kohl
Bernd Wissinger
Timothy Cherry
Rob WJ Collin
Frans PM Cremers
Bart Leroy
Elfride De Baere
A1
Artikel in een tijdschrift
in
GENETICS IN MEDICINE
2019
Abetalipoproteinemia from previously unreported gene mutations
Xavier-Philippe Aers
Bart Leroy
Joep C Defesche
Samiah Shadid
A1
Artikel in een tijdschrift
in
ANNALS OF INTERNAL MEDICINE
2019
Antisense oligonucleotide-based correction of deep-intronic ABCA4 splice mutations using patient-derived fibroblasts and photoreceptor precursor cells
Sarah Naessens
Rob W Collin
Frauke Coppieters
Miriam Bauwens
Lonneke Duijkers
Irina Balikova
Bart Leroy
Elfride De Baere
Alex Garanto
C3
Conferentie
2019
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease
Stijn Van de Sompele
Claire Smith
Marianthi Karali
Marta Corton
Kristof Van Schil
Frank Peelman
Timothy Cherry
Toon Rosseel
Hannah Verdin
Julien Derolez
Thalia Van Laethem
Kamron N. Khan
Martin McKibbin
Carmel Toomes
Manir Ali
Annalaura Torella
Francesco Testa
Francesca Simonelli
Julie De Zaeytijd
Jenneke Van den Ende
Bart Leroy
Frauke Coppieters
Carmen Ayuso
Chris F Inglehearn
Sandro Banfi
Elfride De Baere
A1
Artikel in een tijdschrift
in
GENETICS IN MEDICINE
2019
Coding and non-coding structural variants of ABCA4 contribute to the missing heritability in Stargardt disease, a prevalent inherited retinal disease
Miriam Bauwens
Sarah Naessens
Caroline Van Cauwenbergh
Thalia Van Laethem
Sarah De Jaegere
Irina Balikova
Yves Sznajer
Julie De Zaeytijd
Bart Leroy
Elfride De Baere
C3
Conferentie
2019
Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease (IRD) expands the molecular and phenotypic spectrum of recently identified IRD genes
Stijn Van de Sompele
Kristof Van Schil
Caroline Van Cauwenbergh
Toon Rosseel
Sarah De Jaegere
Thalia Van Laethem
Irina Balikova
Bart Leroy
Frauke Coppieters
Elfride De Baere
C3
Conferentie
2019
Expanding the CPAMD8-associated eye disease spectrum to primary congenital glaucoma : lessons learned from a large consanguineous family with pseudodominance
Hannah Verdin
Irina Balikova
Julie Van De Velde
Philippe Kestelyn
Bart Leroy
Elfride De Baere
C3
Conferentie
2019
Expanding the differential diagnosis of primary congenital glaucoma : molecular lessons learned from a large consanguineous family
Hannah Verdin
Irina Balikova
Julie Van De Velde
Philippe Kestelyn
Bart Leroy
Elfride De Baere
C3
Conferentie
2019
Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss
Giulia Ascari
Frank Peelman
Nina Lambrechts
Thalia Van Laethem
Toon Rosseel
Pietro Farinelli
David Creytens
Irina Balikova
Jan Gerris
Claus Bachert
Carlo Rivolta
SOPHIE WALRAEDT
Bart Leroy
Elfride De Baere
Frauke Coppieters
C3
Conferentie
2019
Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss
Giulia Ascari
Frank Peelman
Pietro Farinelli
Toon Rosseel
Nina Lambrechts
Irina Balikova
Lara Derycke
Gabriële Holtappels
Olga Krysko
Thalia Van Laethem
Sarah De Jaegere
Brecht Guillemyn
Jan De Bleecker
David Creytens
Jo Van Dorpe
Jan Gerris
Claus Bachert
Julie De Zaeytijd
SOPHIE WALRAEDT
Carlo Rivolta
Bart Leroy
Elfride De Baere
Frauke Coppieters
C3
Conferentie
2019
Long-term follow-up of retinal degenerations associated with LRAT mutations and their comparability to phenotypes associated with RPE65 mutations
Mays Talib
Mary J. van Schooneveld
Roos J. G. van Duuren
Caroline Van Cauwenbergh
Jacoline B. ten Brink
Elfride De Baere
Ralph J. Florijn
Nicoline E. Schalij-Delfos
Bart Leroy
Arthur A. Bergen
Camiel J. F. Boon
A1
Artikel in een tijdschrift
in
TRANSLATIONAL VISION SCIENCE & TECHNOLOGY
2019
Ocular involvement in systemic sclerosis : a systematic literature review, it's not all scleroderma that meets the eye
Elke O. Kreps
Charlotte Carton
Maurizio Cutolo
Carlo Alberto Cutolo
Amber Vanhaecke
Bart Leroy
Vanessa Smith
A1
Artikel in een tijdschrift
in
SEMINARS IN ARTHRITIS AND RHEUMATISM
2019
The N‐terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond
Sarah Naessens
Julie De Zaeytijd
Delfien Syx
Roosmarijn Vandenbroucke
Frédéric Smeets
Caroline Van Cauwenbergh
Bart Leroy
Frank Peelman
Frauke Coppieters
A1
Artikel in een tijdschrift
in
HUMAN MUTATION
2019
Where are the missing gene defects in inherited retinal disorders? : intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders
Christina Zeitz
Christelle Michiels
Marion Neuillé
Christoph Friedburg
Christel Condroyer
Fiona Boyard
Aline Antonio
Nassima Bouzidi
Diana Milicevic
Robin Veaux
Aurore Tourville
Axelle Zoumba
Imene Seneina
Marine Foussard
Camille Andrieu
Markus N Preising
Steven Blanchard
Jean-Paul Saraiva
Lilia Mesrob
Edith Le Floch
Claire Jubin
Vincent Meyer
Helene Blanché
Anne Boland
Jean-François Deleuze
Dror Sharon
Isabelle Drumare
Sabine Defoort-Dhellemmes
Elfride De Baere
Bart Leroy
Xavier Zanlonghi
Ingele Casteels
Thorny J de Ravel
Irina Balikova
Rob K Koenekoop
Fanny Laffargue
Rebecca McLean
Irene Gottlob
Dominique Bonneau
Daniel F Schordert
Francis L Munier
Martin McKibbin
Katrina Prescott
Valerie Pelletier
Helene Dollfuss
Yaumara Perdomo-Trujillo
Celine Faure
Charlotte Reiff
Bernd Wissinger
Isabelle Meunier
Susanne Kohl
Eyal Banin
Eberhart Zrenner
Bernhard Jurklies
Birgit Lorenz
Jose-Alain Sahel
Isabelle Audo
A1
Artikel in een tijdschrift
in
HUMAN MUTATION
2019
2018
Antisense oligonucleotide-based correction of deep-intronic ABCA4 splice mutations using patient-derived fibroblasts and photoreceptor precursor cells
Sarah Naessens
Alejandro Garanto
Frauke Coppieters
Miriam Bauwens
Irina Balikova
Bart Leroy
Silvia Albert
Rob Collin
Elfride De Baere
C3
Conferentie
2018
Antisense oligonucleotide-based splice correction of two neighboring deep-intronic ABCA4 mutations causing Stargardt disease
Sarah Naessens
Alejandro Garanto
Miriam Bauwens
Riccardo Sangermano
Irina Balikova
Bart Leroy
Frans Cremers
Elfride De Baere
Rob Collin
C3
Conferentie
2018
Biallelic loss-of-function variants in RAX2, encoding a homeobox-containing Rax transcription factor, cause autosomal recessive inherited retinal disease
Stijn Van de Sompele
Claire Smith
Marianthi Karali
Marta Corton
Kristof Van Schil
Frank Peelman
Timothy Cherry
Toon Rosseel
Hannah Verdin
Julien Derolez
Thalia Van Laethem
Kamron N. Khan
Martin McKibbin
Carmel Toomes
Manir Ali
Annalaura Torella
Francesco Testa
Francesca Simonelli
Julie De Zaeytijd
Jenneke Van den Ende
Bart Leroy
Frauke Coppieters
Carmen Ayuso
Chris F Inglehearn
Sandro Banfi
Elfride De Baere
C3
Conferentie
2018
Clinical characterization of 66 patients with congenital retinal disease due to the deep-intronic c.2991+1655A>G mutation in CEP290
Dyon Valkenburg
Caroline Van Cauwenbergh
Birgit Lorenz
Mies M van Genderen
Mette Bertelsen
Jan-Willem R Pott
Frauke Coppieters
Julie De Zaeytijd
Alberta AHJ Thiadens
Caroline CW Klaver
Hester Y Kroes
Mary J van Schooneveld
Markus Preising
Carel B Hoyng
Bart Leroy
L. Ingeborgh van den Born
Rob W. J. Collin
A1
Artikel in een tijdschrift
in
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
2018
Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease expands the molecular and phenotypic spectrum of recently identified iRD genes
Stijn Van de Sompele
Kristof Van Schil
Caroline Van Cauwenbergh
Toon Rosseel
Sarah De Jaegere
Thalia Van Laethem
Irina Balikova
Bart Leroy
Elfride De Baere
Frauke Coppieters
C3
Conferentie
2018
Functional characterization of N-terminal TIMP3 mutation underlying Sorsby fundus dystrophy in Belgian and French pedigrees
Sarah Naessens
Delfien Syx
Frank Peelman
Roosmarijn Vandenbroucke
Sarah De Jaegere
Frédéric Smeets
Julie De Zaeytijd
Bart Leroy
Elfride De Baere
Frauke Coppieters
C3
Conferentie
2018
Is oral moxifloxacin associated with bilateral acute iris transillumination?
Elke O. Kreps
Kathy Hondeghem
Albert Augustinus
CELINE SYS
Sara Van de Veire
Bart Leroy
Pieter-Paul Schauwvlieghe
A1
Artikel in een tijdschrift
in
ACTA OPHTHALMOLOGICA
2018
Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation : rare novel disease genes and a multitude of novel variants in known disease genes
Kristof Van Schil
Sarah Naessens
Stijn Van de Sompele
Nuria Gruartmoner Roura
Marjolein Carron
Katharina Dannhausen
Sarah De Jaegere
Maxim Vanpanteghem
Frauke Coppieters
Marcus Karlstetter
Bryan Tsou
Thomas Langmann
Françoise Meire
Reza Maroofian
Andrew H Crosby
Irina Balikova
Michel Van Lint
Andrew Webster
Michel Michaelides
Bart Leroy
Elfride De Baere
C3
Conferentie
2018
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
Kristof Van Schil
Sarah Naessens
Stijn Van de Sompele
Marjolein Carron
Alexander Aslanidis
Caroline Van Cauwenbergh
Anja Kathrin Mayer
Mattias Van Heetvelde
Miriam Bauwens
Hannah Verdin
Frauke Coppieters
Michael E Greenberg
Marty G Yang
Marcus Karlstetter
Thomas Langmann
Katleen De Preter
Susanne Kohl
Timothy J Cherry
Bart Leroy
Elfride De Baere
A1
Artikel in een tijdschrift
in
GENETICS IN MEDICINE
2018
Missing heritability in inherited blindness : ABCA4-associated disease as a model
Miriam Bauwens
Elfride De Baere
Bart Leroy
Proefschrift
2018
Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke
Eva De Vilder
STEFANIE CARDOEN
Mohammad J Hosen
Olivier Le Saux
Julie De Zaeytijd
Bart Leroy
Jacques De Reuck
Paul Coucke
Anne De Paepe
Dimitri Hemelsoet
Olivier Vanakker
A1
Artikel in een tijdschrift
in
BRAIN PATHOLOGY
2018
The spectrum of structural and functional abnormalities in female carriers of pathogenic variants in the RPGR gene
Mays Talib
Mary J van Schooneveld
Caroline Van Cauwenbergh
Jan Wijnholds
Jacoline B. ten Brink
Ralph J. Florijn
Nicoline E. Schalij-Delfos
Gislin Dagnelie
Maria M. van Genderen
Elfride De Baere
Magda A. Meester-Smoor
Julie De Zaeytijd
Frans P. M. Cremers
L. Ingeborgh van den Born
Alberta A. Thiadens
Carel B. Hoyng
Caroline C. Klaver
Bart Leroy
Arthur A. Bergen
Camiel J. F. Boon
A1
Artikel in een tijdschrift
in
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
2018
2017
Antisense oligonucleotide-based splice correction of two neighboring deep-intronic ABCA4 mutations causing Stargardt disease
Sarah Naessens
Alejandro Garanto
Miriam Bauwens
Riccardo Sangermano
Irina Balikova
Bart Leroy
Frans Cremers
Elfride De Baere
Rob Collin
C3
Conferentie
2017
Antisense oligonucleotide-based splice correction of two neighboring deep-intronic ABCA4 mutations causing Stargardt disease
Sarah Naessens
Alejandro Garanto
Miriam Bauwens
Riccardo Sangermano
Irina Balikova
Bart Leroy
Frans Cremers
Elfride De Baere
Rob Collin
C3
Conferentie
2017
Diplopia as presenting sign of Turcot syndrome
VIRGINIE NINCLAUS
SOPHIE WALRAEDT
Edward Baert
Genevieve Laureys
Bart Leroy
Julie De Zaeytijd
A1
Artikel in een tijdschrift
in
INTERNATIONAL OPHTHALMOLOGY
2017
Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes
Delfien Bogaert
Melissa Dullaers
Hye Sun Kuehn
Bart Leroy
Julie E Niemela
Hans De Wilde
Sarah De Schryver
Marieke De Bruyne
Frauke Coppieters
Bart Lambrecht
Frans De Baets
Sergio D Rosenzweig
Elfride De Baere
Filomeen Haerynck
A1
Artikel in een tijdschrift
in
SCIENTIFIC REPORTS
2017
Efficacy of tumour necrosis factor inhibitors in peripheral ulcerative keratitis in Granulomatosis with polyangiitis
Ewout Verly
JORIS DE KOCK
Bart Leroy
CELINE SYS
Ilse De Schryver
C3
Conferentie
2017
Hidden genetic variation in Stargardt disease : novel copy number variations, cis-regulatory and deep-intronic splice variants within the ABCA4 locus
Miriam Bauwens
Riccardo Sangermano
Timothy Cherry
Caroline Van Cauwenbergh
Jose Luis Gomez-Skarmeta
Nicole Weisschuh
Susanne Kohl
Bart Leroy
Frans Cremers
Elfride De Baere
C3
Conferentie
2017
Homozygosity mapping-guided exome sequencing in LCA patients of consanguineous origin reveals mutations in known genes and a novel candidate gene
Basamat Almoallem Mohammed
Kristof Van Schil
Laila Jeddawi
Bart Leroy
Frauke Coppieters
Elfride De Baere
C3
Conferentie
2017
Homozygosity mapping-guided exome sequencing in LCA patients of consanguineous origin reveals mutations in known genes and a novel candidate gene
Basamat Almoallem Mohammed
Kristof Van Schil
Laila Jeddawi
Bart Leroy
Frauke Coppieters
Elfride De Baere
C3
Conferentie
2017
Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation : rare novel disease genes and a multitude of novel variants in known disease genes
Kristof Van Schil
Sarah Naessens
Stijn Van de Sompele
Nuria Gruartmoner Roura
Marjolein Carron
Katharina Dannhausen
Sarah De Jaegere
Maxim Vanpanteghem
Frauke Coppieters
Marcus Karlstetter
Bryan Tsou
Thomas Langmann
Françoise Meire
Reza Maroofian
Andrew H Crosby
Irina Balikova
Michel Van Lint
Andrew Webster
Michel Michaelides
Bart Leroy
Elfride De Baere
C3
Conferentie
2017
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
Kristof Van Schil
Sarah Naessens
Stijn Van de Sompele
Marjolein Carron
Alexander Aslanidis
Caroline Van Cauwenbergh
Anja Kathrin Mayer
Mattias Van Heetvelde
Miriam Bauwens
Hannah Verdin
Frauke Coppieters
Michael E Greenberg
Marty G Yang
Marcus Karlstetter
Thomas Langmann
Katleen De Preter
Susanne Kohl
Timothy Cherry
Bart Leroy
Elfride De Baere
C3
Conferentie
2017
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
Kristof Van Schil
Sarah Naessens
Stijn Van de Sompele
Marjolein Carron
Alexander Aslanidis
Caroline Van Cauwenbergh
Anne Kathrin Mayer
Mattias Van Heetvelde
Miriam Bauwens
Hannah Verdin
Frauke Coppieters
Michael E Greenberg
Marty G Yang
Marcus Karlstetter
Thomas Langmann
Katleen De Preter
Susanne Kohl
Timothy J Cherry
Bart Leroy
Elfride De Baere
C3
Conferentie
2017
Missense mutation in CEP78 in a family with cone-rod dystrophy, sensorineural hearing loss, obesity and subfertility
Giulia Ascari
Stijn Van de Sompele
Lara Derycke
Gabriële Holtappels
Olga Krysko
Jo Van Dorpe
David Creytens
Thalia Van Laethem
Irina Balikova
Jan Gerris
Claus Bachert
Bart Leroy
Elfride De Baere
Frauke Coppieters
C3
Conferentie
2017
Missense mutation in CEP78 in a family with cone-rod dystrophy, sensorineural hearing loss, obesity and subfertility.
Giulia Ascari
Stijn Van de Sompele
Lara Derycke
Gabriële Holtappels
Olga Krysko
Jo Van Dorpe
David Creytens
Thalia Van Laethem
Irina Balikova
Jan Gerris
Claus Bachert
Bart Leroy
Elfride De Baere
Frauke Coppieters
C3
Conferentie
2017
Mutations in splicing factor genes are a major cause of autosomal dominant retinitis pigmentosa in Belgian families
Caroline Van Cauwenbergh
Frauke Coppieters
Dimitri Roels
Sarah De Jaegere
Helena Flipts
Julie De Zaeytijd
SOPHIE WALRAEDT
Charlotte Claes
Erik Fransen
Guy Van Camp
Fanny Depasse
Ingele Casteels
Thomy de Ravel
Bart Leroy
Elfride De Baere
A1
Artikel in een tijdschrift
in
PLOS ONE
2017
NXT-EYE : integrative strategy to elucidate hidden genetic variation in inherited retinal diseases
Kristof Van Schil
Elfride De Baere
Bart Leroy
Proefschrift
2017
Novel genes and mechanisms underlying autosomal dominant retinitis pigmentosa and allied retinal dystrophies
Caroline Van Cauwenbergh
Elfride De Baere
Bart Leroy
Frauke Coppieters
Proefschrift
2017
Unraveling the molecular basis genetically heterogeneous developmental eye disorders
Basamat Almoallem Mohammed
Elfride De Baere
Philippe Kestelyn
Bart Leroy
Proefschrift
2017
Who stole my cholesterol? : a case report of night blindness and virtually absent serum betalipoproteins
Xavier-Philippe Aers
Bart Leroy
Samiah Shadid
C3
Conferentie
2017
arrEYE : a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs
Caroline Van Cauwenbergh
Kristof Van Schil
Robrecht Cannoodt
Miriam Bauwens
Thalia Van Laethem
Sarah De Jaegere
Wouter Steyaert
Tom Sante
Björn Menten
Bart Leroy
Frauke Coppieters
Elfride De Baere
A1
Artikel in een tijdschrift
in
GENETICS IN MEDICINE
2017
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
Ludovic Martin
Julie De Zaeytijd
Bart Leroy
Jean-Marc Ebran
Paul Coucke
Anne De Paepe
Olivier Vanakker
C3
Conferentie
2016
Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7
Kristof Van Schil
Marcus Karlstetter
Alexander Aslanidis
Katharina Dannhausen
Maleeha Azam
Raheel Qamar
Bart Leroy
Fanny Depasse
Thomas Langmann
Elfride De Baere
A1
Artikel in een tijdschrift
in
SCIENTIFIC REPORTS
2016
Biallelic mutations in GNB3 cause a unique form of autosomal-recessive congenital stationary night blindness
Ajoy Vincent
Isabelle Audo
Erika Tavares
Jason T Maynes
Anupreet Tumber
Thomas Wright
Shuning Li
Christelle Michiels
Christel Condroyer
Heather MacDonald
Robert Verdet
José-Alain Sahel
Christian P Hamel
Christina Zeitz
Elise Héon
the GNB3 Consortium
Elfride De Baere
Bart Leroy
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
2016
Claudin 19-based familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a sibling pair
Sheena Sharma
Emily Place
Katherine Lord
Bart Leroy
Marni J Falk
Madhura Pradhan
A1
Artikel in een tijdschrift
in
CLINICAL NEPHROLOGY
2016
Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms
Kristof Van Schil
Sarah Naessens
Stijn Van de Sompele
Miriam Bauwens
Hannah Verdin
Caroline Van Cauwenbergh
Anja Kathrin Mayer
Susanne Kohl
Bart Leroy
Elfride De Baere
C3
Conferentie
2016
Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms
Kristof Van Schil
Sarah Naessens
Stijn Van de Sompele
Miriam Bauwens
Hannah Verdin
Caroline Van Cauwenbergh
Anja Kathrin Mayer
Susanne Kohl
Bart Leroy
Elfride De Baere
C3
Conferentie
2016
Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms
Kristof Van Schil
Sarah Naessens
Stijn Van de Sompele
Miriam Bauwens
Hannah Verdin
Caroline Van Cauwenbergh
Anja Kathrin Mayer
Susanne Kohl
Bart Leroy
Elfride De Baere
C3
Conferentie
2016
Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms
Kristof Van Schil
Sarah Naessens
Stijn Van de Sompele
Miriam Bauwens
Hannah Verdin
Caroline Van Cauwenbergh
Anja Kathrin Mayer
Susanne Kohl
Bart Leroy
Elfride De Baere
C3
Conferentie
2016
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy
Elena Buena-Atienza
Klaus Rüther
Britta Baumann
Richard Bergholz
David Birch
Elfride De Baere
Helene Dollfus
Marie T Greally
Peter Gustavsson
Christian P Hamel
John R Heckenlively
Bart Leroy
Astrid S Plomp
Jan Willem R Pott
Katherine Rose
Thomas Rosenberg
Zornitza Stark
Joke BGM Verheij
Richard Weleber
Ditta Zobor
Nicole Weisschuh
Susanne Kohl
Bernd Wissinger
A1
Artikel in een tijdschrift
in
SCIENTIFIC REPORTS
2016
Detailed clinical phenotyping of oxalate maculopathy in primary hyperoxaluria type 1 and review of the literature
THIERRY DERVEAUX
Patricia Delbeke
SOPHIE WALRAEDT
Ann Raes
Steven Van Laecke
Bart Leroy
Julie De Zaeytijd
A1
Artikel in een tijdschrift
in
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES
2016
Do not turn a blind eye to alkyl nitrite (poppers)!
Nathalie OG Bral
Marina Marinkovic
Bart Leroy
Kristien Hoornaert
Michel van Lint
Marcel PM ten Tusscher
A1
Artikel in een tijdschrift
in
ACTA OPHTHALMOLOGICA
2016
Elucidation of the molecular cause underlying Sorsby fundus dystrophy in a large Belgian pedigree : N-terminal TIMP3 mutation 15 years later
Sarah Naessens
Delfien Syx
Roosmarijn Vandenbroucke
Brecht Guillemyn
Sarah De Jaegere
Bart Leroy
Elfride De Baere
Frauke Coppieters
C3
Conferentie
2016
Elucidation of the molecular cause underlying Sorsby fundus dystrophy in a large Belgian pedigree : N-terminal TIMP3 mutation 15 years later
Sarah Naessens
Delfien Syx
Roosmarijn Vandenbroucke
Brecht Guillemyn
Sarah De Jaegere
Bart Leroy
Elfride De Baere
Frauke Coppieters
C3
Conferentie
2016
Elucidation of the molecular cause underlying Sorsby fundus dystrophy in a large Belgian pedigree : functional characterization of N-terminal TIMP3 mutation
Sarah Naessens
Delfien Syx
Roosmarijn Vandenbroucke
Brecht Guillemyn
Sarah De Jaegere
Bart Leroy
Elfride De Baere
Frauke Coppieters
C3
Conferentie
2016
Functional characterization of novel deleterious MFSD8 mutations found by whole exome sequencing in early-onset isolated maculopathy
Miriam Bauwens
Nicole Weisschuh
Chantal Ceuterick-de Grote
Rudy Van Coster
Bart Leroy
Elfride De Baere
C3
Conferentie
2016
Functional characterization of novel deleterious MFSD8 mutations found by whole exome sequencing in early-onset isolated maculopathy
Miriam Bauwens
Nicole Weisschuh
Chantal Ceuterick-de Grote
Rudy Van Coster
Bart Leroy
Elfride De Baere
C3
Conferentie
2016
Functional characterization of novel deleterious MFSD8 mutations found by whole exome sequencing in early-onset isolated maculopathy
Miriam Bauwens
Nicole Weisschuh
Chantal Ceuterick-de Grote
Rudy Van Coster
Bart Leroy
Elfride De Baere
C3
Conferentie
2016
Hidden genetic variation in retinal dystrophies : exploring the contribution of copy number variations
Kristof Van Schil
Bart Leroy
Elfride De Baere
C3
Conferentie
2016
Identification and characterization of RCBTB1 as new disease gene for isolated and syndromic retinal dystrophy
Giulia Ascari
Frauke Coppieters
K Dannhausen
M Karlstetter
K Nikopoulos
M Xu
Miriam Bauwens
Marieke De Bruyne
Thalia Van Laethem
F Meire
R Chen
T Langmann
C Rivolta
CP Hamel
Bart Leroy
Elfride De Baere
C3
Conferentie
2016
Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1 and possible implication in the ubiquitination pathway
Giulia Ascari
Frauke Coppieters
K Dannhausen
M Karlstetter
K Nikopoulos
M Xu
Miriam Bauwens
Marieke De Bruyne
Thalia Van Laethem
F Meire
R Chen
T Langmann
C Rivolta
CP Hamel
Bart Leroy
Elfride De Baere
C3
Conferentie
2016
Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, a gene implicated in ubiquitination
Frauke Coppieters
Giulia Ascari
Katharina Dannhausen
Konstantinos Nikopoulos
Frank Peelman
Marcus Karlstetter
Mingchu Xu
Cécile Brachet
Isabelle Meunier
Miltiadis K Tsilimbaris
Chrysanthi Tsika
Styliani V Blazaki
Sarah Vergult
Pietro Farinelli
Thalia Van Laethem
Miriam Bauwens
Marieke De Bruyne
Rui Chen
Thomas Langmann
Ruifang Sui
Françoise Meire
Carlo Rivolta
Christian P Hamel
Bart Leroy
Elfride De Baere
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
2016
Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, implicated in ubiquitination.
Giulia Ascari
Frauke Coppieters
K Dannhausen
M Karlstetter
K Nikopoulos
M Xu
Miriam Bauwens
Marieke De Bruyne
Thalia Van Laethem
F Meire
R Chen
T Langmann
C Rivolta
CP Hamel
Bart Leroy
Elfride De Baere
C3
Conferentie
2016
Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis
Basamat Almoallem Mohammed
Gavin Arno
Julie De Zaeytijd
Sarah Hull
Martina Suzani
Thomy JL de Ravel
Andrew Webster
Bart Leroy
Tony Moore
Elfride De Baere
C3
Conferentie
2016
Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis
Basamat Almoallem Mohammed
Gavin Arno
Julie De Zaeytijd
Sarah Hull
Martina Suzani
Thomy JL de Ravel
Andrew Webster
Bart Leroy
Tony Moore
Elfride De Baere
C3
Conferentie
2016
Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis
Basamat Almoallem Mohammed
Gavin Arno
Julie De Zaeytijd
Sarah Hull
Martina Suzani
Thomy JL de Ravel
Andrew Webster
Bart Leroy
Tony Moore
Elfride De Baere
C3
Conferentie
2016
Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis
Basamat Almoallem Mohammed
Gavin Arno
Julie De Zaeytijd
Sarah Hull
Martina Suzani
Thomy JL de Ravel
Andrew Webster
Bart Leroy
Tony Moore
Elfride De Baere
C3
Conferentie
2016
Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity
Nicole TM Saksens
Mark P Krebs
Frederieke E Schoenmaker-Koller
Wanda Hicks
Minzhong Yu
Lanying Shi
Lucy Rowe
Gayle B Collin
Jeremy R Charette
Stef J Letteboer
Kornelia Neveling
Tamara W van Moorsel
Sleiman Abu-Ltaif
Elfride De Baere
SOPHIE WALRAEDT
Sandro Banfi
Francesca Simonelli
Frans PM Cremers
Camiel JF Boon
Ronald Roepman
Bart Leroy
Neal S Peachey
Carel B Hoyng
Patsy M Nishina
Anneke I den Hollander
A1
Artikel in een tijdschrift
in
NATURE GENETICS
2016
Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa
Kristof Van Schil
Marcus Karlstetter
Alexander Aslanidis
Bart Leroy
Frauke Coppieters
Fanny Depasse
Thomas Langmann
Elfride De Baere
C3
Conferentie
2016
Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa
Kristof Van Schil
Marcus Karlstetter
Alexander Aslanidis
Bart Leroy
Frauke Coppieters
Fanny Depasse
Thomas Langmann
Elfride De Baere
C3
Conferentie
2016
Visual prognosis in USH2A-associated retinitis pigmentosa is worse for patients with Usher syndrome type IIa than for those with nonsyndromic retinitis pigmentosa
Laurence HM Pierrache
Bas P Hartel
Erwin van Wijk
Magda A Meester-Smoor
Frans PM Cremers
Elfride De Baere
Julie De Zaeytijd
Mary J van Schooneveld
Cor WRJ Cremers
Gislin Dagnelie
Carel B Hoyng
Arthur A Bergen
Bart Leroy
Ronald JE Pennings
L Ingeborgh van den Born
Caroline CW Klaver
A1
Artikel in een tijdschrift
in
OPHTHALMOLOGY
2016
2015
A nonsense mutation in FAM161A is a recurrent founder allele in Dutch and Belgian individuals with autosomal recessive retinitis pigmentosa
Kristof Van Schil
B Jeroen Klevering
Bart Leroy
Jan Willem R Pott
Dikla Bandah-Rozenfeld
Marijke N Zonneveld-Vrieling
Dror Sharon
Anneke I den Hollander
Frans PM Cremers
Elfride De Baere
Rob W Collin
L Ingeborgh van den Born
A1
Artikel in een tijdschrift
in
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
2015
Advancing Therapeutic Strategies for Inherited Retinal Degeneration: Recommendations From the Monaciano Symposium
Debra A Thompson
Robin R Ali
Eyal Banin
Kari E Branham
John G Flannery
David M Gamm
William W Hauswirth
John R Heckenlively
Alessandro Iannaccone
K Thiran Jayasundera
Naheed W Khan
Robert S Molday
Mark E Pennesi
Thomas A Reh
Richard G Weleber
David N Zacks
for the Monaciano Consortium
Bart Leroy
A1
Artikel in een tijdschrift
in
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
2015
An augmented ABCA4 screen targeting non-coding regions reveals a deep intronic founder causal variant in Belgian Stargardt patients
Miriam Bauwens
Julie De Zaeytijd
Nicole Weisschuh
Susanne Kohl
Thomy de Ravel de l'Argentière
Marjan De Rademaeker
Bart Loeys
Frauke Coppieters
Bart Leroy
Elfride De Baere
C3
Conferentie
2015
An augmented ABCA4 screen targeting non-coding regions reveals a deep intronic founder causal variant in Belgian Stargardt patients
Miriam Bauwens
Julie De Zaeytijd
Nicole Weisschuh
Susanne Kohl
Thomy de Ravel de l'Argentière
Marjan De Rademaeker
Bart Loeys
Frauke Coppieters
Bart Leroy
Elfride De Baere
C3
Conferentie
2015
An augmented ABCA4 screen targeting non-coding regions reveals a deep intronic founder causal variant in Belgian Stargardt patients
Miriam Bauwens
Julie De Zaeytijd
Nicole Weisschuh
Susanne Kohl
Thomy de Ravel de l'Argentière
Marjan De Rademaeker
Bart Loeys
Frauke Coppieters
Bart Leroy
Elfride De Baere
C3
Conferentie
2015
An augmented ABCA4 screen targeting non-coding regions reveals a deep intronic founder causal variant in Belgian Stargardt patients
Miriam Bauwens
Julie De Zaeytijd
Nicole Weisschuh
Susanne Kohl
Thomy de Ravel de l'Argentière
Marjan De Rademaeker
Bart Loeys
Frauke Coppieters
Bart Leroy
Elfride De Baere
C3
Conferentie
2015
An augmented ABCA4 screen targeting non-coding regions reveals a deep intronic founder causal variant in Belgian Stargardt patients
Miriam Bauwens
Julie De Zaeytijd
Nicole Weisschuh
Susanne Kohl
Thomy de Ravel de l'Argentière
Marjan De Rademaeker
Bart Loeys
Frauke Coppieters
Bart Leroy
Elfride De Baere
C3
Conferentie
2015
An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients
Miriam Bauwens
Julie De Zaeytijd
Nicole Weisschuh
Susanne Kohl
Françoise Meire
Karin Dahan
Fanny Depasse
Sarah De Jaegere
Thomy De Ravel
Marjan De Rademaeker
Bart Loeys
Frauke Coppieters
Bart Leroy
Elfride De Baere
A1
Artikel in een tijdschrift
in
HUMAN MUTATION
2015
Anti-VEGF treatment in Pseudoxanthoma elasticum: preliminary results of a long-term ophthalmological follow-up
Eva De Vilder
Julie De Zaeytijd
Bart Leroy
Olivier Vanakker
C3
Conferentie
2015
Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement
Mohammed E El-Asrag
Panagiotis I Sergouniotis
Martin McKibbin
Vincent Plagnol
Eamonn Sheridan
Naushin Waseem
Zakia Abdelhamed
Declan McKeefry
Kristof Van Schil
James A Poulter
Colin A Johnson
Ian M Carr
Bart Leroy
Elfride De Baere
Chris F Inglehearn
Andrew R Webster
Carmel Toomes
Manir Ali
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
2015
Colour vision in Stargardt disease
Tine Vandenbroucke
Ronald Buyl
Julie De Zaeytijd
Miriam Bauwens
André Uvijls
Elfride De Baere
Bart Leroy
A1
Artikel in een tijdschrift
in
OPHTHALMIC RESEARCH
2015
Disease expression in autosomal recessive retinal dystrophy associated with mutations in the DRAM2 gene
Panagiotis I Sergouniotis
Martin McKibbin
Anthony G Robson
Hanno J Bolz
Elfride De Baere
Philipp L Müller
Raoul Heller
Mohammed E El-Asrag
Kristof Van Schil
Vincent Plagnol
Carmel Toomes
Manir Ali
Graham E Holder
Peter Charbel Issa
Bart Leroy
Chris F Inglehearn
Andrew R Webster
A1
Artikel in een tijdschrift
in
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
2015
Exploring the role of non-coding variation in hereditary blindness : Stargardt disease as a model
Miriam Bauwens
Julie De Zaeytijd
Nicole Weisschuh
Susanne Kohl
Thomy de Ravel de l'Argentière
Marjan De Rademaeker
Bart Loeys
Frauke Coppieters
Bart Leroy
Elfride De Baere
C3
Conferentie
2015
Exploring the role of non-coding variation in hereditary blindness : Stargardt disease as a model
Miriam Bauwens
Julie De Zaeytijd
Nicole Weisschuh
Susanne Kohl
Thomy de Ravel de l'Argentière
Marjan De Rademaeker
Bart Loeys
Frauke Coppieters
Bart Leroy
Elfride De Baere
C3
Conferentie
2015
Hidden genetic variation in LCA9-associated congenital blindness explained by 5′UTR mutations and copy-number variations of NMNAT1
Frauke Coppieters
Anne Laure Todeschini
Takuro Fujimaki
Annelot Baert
Marieke De Bruyne
Caroline Van Cauwenbergh
Hannah Verdin
Miriam Bauwens
Maté Ongenaert
Mineo Kondo
Françoise Meire
Akira Murakami
Reiner A Veitia
Bart Leroy
Elfride De Baere
A1
Artikel in een tijdschrift
in
HUMAN MUTATION
2015
Homozygous deletion of glutamate receptor gene GRID2 causes early-onset cerebellar ataxia and retinal dystrophy
Kristof Van Schil
Marcus Karlstetter
Alexander Aslanidis
Bart Leroy
Frauke Coppieters
Fanny Depasse
Thomas Langmann
Elfride De Baere
C3
Conferentie
2015
Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome
Kinga M Bujakowska
Qi Zhang
Anna M Siemiatkowska
Qin Liu
Emily Place
Marni J Falk
Mark Consugar
Marie-Elise Lancelot
Aline Antonio
Christine Lonjou
Wassila Carpentier
Saddek Mohand-Saїd
Anneke I den Hollander
Frans PM Cremers
Bart Leroy
Xiaowu Gai
José-Alain Sahel
L Ingeborgh van den Born
Rob WJ Collin
Christina Zeitz
Isabelle Audo
Eric A Pierce
A1
Artikel in een tijdschrift
in
HUMAN MOLECULAR GENETICS
2015
Novel FRMD7 mutations and genomic rearrangement expand the molecular pathogenesis of X-linked idiopathic infantile nystagmus
Basamat Almoallem Mohammed
Miriam Bauwens
SOPHIE WALRAEDT
Patricia Delbeke
Julie De Zaeytijd
Bart Leroy
Elfride De Baere
C3
Conferentie
2015
Novel FRMD7 mutations and genomic rearrangement expand the molecular pathogenesis of X-linked idiopathic infantile nystagmus
Basamat Almoallem Mohammed
Miriam Bauwens
SOPHIE WALRAEDT
Patricia Delbeke
Julie De Zaeytijd
Philippe Kestelyn
Françoise Meire
Sandra Janssens
Caroline Van Cauwenbergh
Hannah Verdin
Sally Hooghe
Prasoon Kumar Thakur
Frauke Coppieters
Kim De Leeneer
Koenraad Devriendt
Bart Leroy
Elfride De Baere
A1
Artikel in een tijdschrift
in
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
2015
Novel FRMD7 mutations and genomic rearrangement expand the molecular pathogenesis of X-linked idiopathic infantile nystagmus
Basamat Almoallem Mohammed
Miriam Bauwens
SOPHIE WALRAEDT
Patricia Delbeke
Julie De Zaeytijd
Bart Leroy
Elfride De Baere
C3
Conferentie
2015
Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy
Galuh DN Astuti
Vincent Sun
Miriam Bauwens
Ditta Zobor
Bart Leroy
Amer Omar
Bernhard Jurklies
Irma Lopez
Huanan Ren
Volkan Yazar
Christian Hamel
Ulrich Kellner
Bernd Wissinger
Susanne Kohl
Elfride De Baere
Rob WJ Collin
Robert K Koenekoop
A1
Artikel in een tijdschrift
in
MOLECULAR GENETICS & GENOMIC MEDICINE
2015
Prominent Mittendorf spot
Elke O. Kreps
PIETER LAMBRECHT
Bart Leroy
Kristien Hoornaert
Redactioneel materiaal
2015
Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa
Kristof Van Schil
Marcus Karlstetter
Alexander Aslanidis
Bart Leroy
Frauke Coppieters
Fanny Depasse
Thomas Langmann
Elfride De Baere
C3
Conferentie
2015
Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa
Kristof Van Schil
Marcus Karlstetter
Alexander Aslanidis
Bart Leroy
Frauke Coppieters
Fanny Depasse
Thomas Langmann
Elfride De Baere
C3
Conferentie
2015
Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa
Kristof Van Schil
Marcus Karlstetter
Alexander Aslanidis
Bart Leroy
Frauke Coppieters
Fanny Depasse
Thomas Langmann
Elfride De Baere
C3
Conferentie
2015
Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa
Kristof Van Schil
Marcus Karlstetter
Alexander Aslanidis
Bart Leroy
Frauke Coppieters
Fanny Depasse
Thomas Langmann
Elfride De Baere
C3
Conferentie
2015
Refsum disease
Ronald JA Wanders
Hans R Waterham
Bart Leroy
Hoofdstuk in een boek
in
GeneReviews®
2015
Retinal development in infants and young children with achromatopsia
Helena Lee
Ravi Purohit
Viral Sheth
Rebecca J McLean
Susanne Kohl
Bart Leroy
Venki Sundaram
Michel Michaelides
Frank A Proudlock
Irene Gottlob
Redactioneel materiaal
2015
SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein
Caroline Van Cauwenbergh
Kris Vleminckx
Frauke Coppieters
Marcus Karlstetter
Thomas Langmann
Gael Manes
Christian P Hamel
Bart Leroy
Elfride De Baere
C3
Conferentie
2015
SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein
Caroline Van Cauwenbergh
Kris Vleminckx
Frauke Coppieters
Marcus Karlstetter
Thomas Langmann
Gael Manes
Christian P Hamel
Bart Leroy
Elfride De Baere
C3
Conferentie
2015
SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein
Caroline Van Cauwenbergh
Marcus Karlstetter
Kris Vleminckx
Gael Manes
Thomas Langmann
Christian Hamel
Bart Leroy
Frauke Coppieters
Elfride De Baere
C3
Conferentie
2015
SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein
Caroline Van Cauwenbergh
Kris Vleminckx
Frauke Coppieters
Marcus Karlstetter
Thomas Langmann
Gael Manes
Christian P Hamel
Bart Leroy
Elfride De Baere
C3
Conferentie
2015
2014
Abnormal retinal development associated with FRMD7 mutations
Mervyn G Thomas
Moira Crosier
Susan Lindsay
Anil Kumar
Masasuke Araki
Bart Leroy
Rebecca J McLean
Viral Sheth
Gail Maconachie
Shery Thomas
Anthony T Moore
Irene Gottlob
A1
Artikel in een tijdschrift
in
HUMAN MOLECULAR GENETICS
2014
Copy number analysis of ABCA4 in Belgian patients with Stargardt reveals exon 20-22 deletion
Miriam Bauwens
Sarah De Jaegere
Steve Lefever
Barbara D'haene
Filip Pattyn
Lies Hoefsloot
Thomy de Ravel de l'Argentière
Bart Leroy
Elfride De Baere
Frauke Coppieters
C3
Conferentie
2014
Copy number analysis of ABCA4 in Belgian patients with Stargardt reveals exon 20-22 deletion
Miriam Bauwens
Sarah De Jaegere
Steve Lefever
Barbara D'haene
Filip Pattyn
Lies Hoefsloot
Thomy de Ravel de l'Argentière
Bart Leroy
Elfride De Baere
Frauke Coppieters
C3
Conferentie
2014
Exploring the role of a novel disease gene EML4 in autosomal recessive retinitis pigmentosa
Kristof Van Schil
Bart Leroy
Elfride De Baere
C3
Conferentie
2014
Exploring the role of non-coding variation in hereditary blindness : Stargardt disease as a model
Miriam Bauwens
Frauke Coppieters
Thomy de Ravel de l'Argentière
Ingele Casteels
Fanny Depasse
Bart Leroy
Elfride De Baere
C3
Conferentie
2014
Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy
Frauke Coppieters
Kristof Van Schil
Miriam Bauwens
Hannah Verdin
Annelies De Jaegher
Delfien Syx
Tom Sante
Steve Lefever
Nouha Bouayed Abdelmoula
Fanny Depasse
Ingele Casteels
Thomy de Ravel
Françoise Meire
Bart Leroy
Elfride De Baere
A1
Artikel in een tijdschrift
in
GENETICS IN MEDICINE
2014
Novel and known FRMD7 mutations and copy number variation in Belgian patients with X-linked idiopathic infantile nystagmus
Basamat Almoallem Mohammed
Miriam Bauwens
SOPHIE WALRAEDT
Patricia Delbeke
Julie De Zaeytijd
Bart Leroy
Elfride De Baere
C3
Conferentie
2014
Novel and known FRMD7 mutations and copy number variation in Belgian patients with X-linked idiopathic infantile nystagmus
Basamat Almoallem Mohammed
Miriam Bauwens
Sophie Walraedt
Patricia Delbeke
Hannah Verdin
Julie De Zaeytijd
Bart Leroy
Elfride De Baere
C3
Conferentie
2014
Novel and known FRMD7 mutations and copy number variation in Belgian patients with X-linked idiopathic infantile nystagmus
Basamat Almoallem Mohammed
Miriam Bauwens
Sophie Walraedt
Patricia Delbeke
Julie De Zaeytijd
Bart Leroy
Elfride De Baere
C3
Conferentie
2014
SLC24A5 Mutations are associated with non-syndromic oculocutaneous albinism
Fanny Morice-Picard
Eulalie Lasseaux
Stéphane François
Delphine Simon
Caroline Rooryck
Eric Bieth
Estelle Colin
Dominique Bonneau
Hubert Journel
SOPHIE WALRAEDT
Bart Leroy
Francoise Meire
Didier Lacombe
Benoit Arveiler
A1
Artikel in een tijdschrift
in
JOURNAL OF INVESTIGATIVE DERMATOLOGY
2014
Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2
Verena Burtscher
Klaus W Schicker
Elena Novikova
Birgit Pöhn
Thomas Stockner
Christof Kugler
Anamika Singh
Christina Zeitz
Marie-Elise Lancelot
Isabelle Audo
Bart Leroy
Michael Freissmuth
Stefan Herzig
Jan Matthes
Alexandra Koschak
A1
Artikel in een tijdschrift
in
BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES
2014
2013
A dual approach for comprehensive genetic testing of ABCA4 in Stargardt disease
Miriam Bauwens
Caroline Van Cauwenbergh
Sarah De Jaegere
Steve Lefever
Barbara D'haene
Filip Pattyn
Thomy de Ravel de l'Argentière
Bart Leroy
Elfride De Baere
Frauke Coppieters
C3
Conferentie
2013
A dual approach for comprehensive genetic testing of ABCA4 in Stargardt disease
Miriam Bauwens
Caroline Van Cauwenbergh
Sarah De Jaegere
Steve Lefever
Barbara D'haene
Filip Pattyn
Bart Leroy
Elfride De Baere
Frauke Coppieters
C3
Conferentie
2013
A dual approach for comprehensive genetic testing of ABCA4 in Stargardt disease
Miriam Bauwens
Caroline Van Cauwenbergh
Sarah De Jaegere
Steve Lefever
Barbara D'haene
Thomy de Ravel de l'Argentière
Bart Leroy
Elfride De Baere
Frauke Coppieters
C3
Conferentie
2013
A dual approach for comprehensive genetic testing of ABCA4 in Stargardt disease
Miriam Bauwens
Caroline Van Cauwenbergh
Sarah De Jaegere
Steve Lefever
Barbara D'haene
Thomy de Ravel de l'Argentière
Bart Leroy
Elfride De Baere
Frauke Coppieters
C3
Conferentie
2013
Characterization of cardiovascular involvement in pseudoxanthoma elasticum families
Laurence Campens
Olivier Vanakker
Bram Trachet
Patrick Segers
Bart Leroy
Julie De Zaeytijd
Dirk Voet
Anne De Paepe
Tine De Backer
Julie De Backer
A1
Artikel in een tijdschrift
in
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
2013
Copy number analysis of ABCA4 in Belgian patients with Stargardt reveals exon 20-22 deletion
Miriam Bauwens
Sarah De Jaegere
Steve Lefever
Barbara D'haene
Filip Pattyn
Lies Hoefsloot
Thomy de Ravel de l'Argentière
Bart Leroy
Elfride De Baere
Frauke Coppieters
C3
Conferentie
2013
Exome sequencing identifies a novel RP1 mutation in a Belgian family with autosomal dominant retinitis pigmentosa
Caroline Van Cauwenbergh
Frauke Coppieters
SARAH DE JAEGERE
Julie De Zaeytijd
Bart Leroy
Elfride De Baere
C3
Conferentie
2013
Exome sequencing identifies a novel RP1 mutation in a Belgian family with autosomal dominant retinitis pigmentosa
Caroline Van Cauwenbergh
Frauke Coppieters
SARAH DE JAEGERE
Julie De Zaeytijd
Bart Leroy
Elfride De Baere
C3
Conferentie
2013
Familial cases of a submicroscopic Xp22.2 deletion : genotype-phenotype correlation in microphthalmia with linear skin defects syndrome
Sarah Vergult
Bart Leroy
Ilse Claerhout
Björn Menten
A1
Artikel in een tijdschrift
in
MOLECULAR VISION
2013
High-resolution optical coherence tomography, autofluorescence, and infrared reflectance imaging in Sjögren reticular dystrophy
Pieter-Paul Schauwvlieghe
Kara Della Torre
Frauke Coppieters
ANNELEEN VAN HOEY
Elfride De Baere
Julie De Zaeytijd
Bart Leroy
Scott E Brodie
A1
Artikel in een tijdschrift
in
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES
2013
Identification of novel homozygous deletions in consanguineous pedigrees as a shortcut to candidate gene discovery in hereditary blindness
Kristof Van Schil
Thomy De Ravel
Bart Leroy
Hannah Verdin
Frauke Coppieters
Françoise Meire
Elfride De Baere
C3
Conferentie
2013
Identification of novel homozygous deletions in consanguineous pedigrees as a shortcut to candidate gene discovery in retinal dystrophies
Kristof Van Schil
Thomy De Ravel
Bart Leroy
Hannah Verdin
Frauke Coppieters
Françoise Meire
Elfride De Baere
C3
Conferentie
2013
Identification of novel homozygous deletions in consanguineous pedigrees as a shortcut to candidate gene discovery in retinal dystrophies
Kristof Van Schil
Françoise Meire
Thomy De Ravel
Bart Leroy
Hannah Verdin
Frauke Coppieters
Elfride De Baere
C3
Conferentie
2013
Identification of novel homozygous deletions in consanguineous pedigrees as a shortcut to candidate gene discovery in retinal dystrophies
Kristof Van Schil
Françoise Meire
Thomy De Ravel
Bart Leroy
Hannah Verdin
Frauke Coppieters
Elfride De Baere
C3
Conferentie
2013
Identity-by-descent mapping and exome sequencing reveals a new candidate gene for the primary congenital glaucoma locus GLC3E
Hannah Verdin
Bart Leroy
Barbara D'haene
Frauke Coppieters
Steve Lefever
Philippe Kestelyn
Elfride De Baere
C3
Conferentie
2013
Identity-by-descent mapping and exome sequencing reveals a new candidate gene for the primary congenital glaucoma locus GLC3E
Hannah Verdin
Bart Leroy
Barbara D'haene
Elise Vantroys
Steve Lefever
Frauke Coppieters
Philippe Kestelyn
Elfride De Baere
C3
Conferentie
2013
Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction
Susanne Roosing
L Ingeborgh van den Bon
Carel B Hoyng
Alberta AHJ Thiadeus
Elfride De Baere
Rob WJ Collin
Robert K Koenekoop
Bart Leroy
Norka van Moll-Ramirez
Hanka Venselaar
Frans CC Riemslag
Frans PM Cremers
Caroline CW Klaver
Anneke I den Hollander
A1
Artikel in een tijdschrift
in
OPHTHALMOLOGY
2013
Questioning the pathogenic role of the GLA p.Ala143Thr 'mutation' in Fabry disease: implications for screening studies and ERT
Wim Terryn
Raymond Vanholder
Dimitri Hemelsoet
Bart Leroy
Wim Van Biesen
G De Schoenmakere
Brigitte Wuyts
Kathleen Claes
Julie De Backer
Anne De Paepe
A Fogo
Marleen Praet
Bruce Poppe
Hoofdstuk in een boek
in
JIMD reports : case and research reports 2012/5
2013
Regulatory mutations in the 5'UTR of NMNAT1, encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis
Frauke Coppieters
Annelot Baert
Caroline Van Cauwenbergh
Miriam Bauwens
SARAH DE JAEGERE
Thomy de Ravel
Françoise Meire
Bart Leroy
Elfride De Baere
C3
Conferentie
2013
Regulatory mutations in the 5'UTR of NMNAT1, encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis
Frauke Coppieters
Annelot Baert
Caroline Van Cauwenbergh
Miriam Bauwens
SARAH DE JAEGERE
Thomy De Ravel
Françoise Meire
Bart Leroy
Elfride De Baere
C3
Conferentie
2013
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy
Ivana Peluso
Ivan Conte
Francesco Testa
Gopuraja Dharmalingam
Mariateresa Pizzo
Rob WJ Collin
Nicola Meola
Sara Barbato
Margherita Mutarelli
Carmela Ziviello
Anna Maria Barbarulo
Vincenzo Nigro
Mariarosa AB Melone
Francesca Simonelli
Sandro Banfi
the European Retinal Disease Consortium
Elfride De Baere
Bart Leroy
A1
Artikel in een tijdschrift
in
ORPHANET JOURNAL OF RARE DISEASES
2013
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness
Christina Zeitz
Samuel G Jacobson
Christian P Hamel
Kinga Bujakowska
Marion Neuillé
Elise Orhan
Xavier Zanlonghi
Marie-Elise Lancelot
Christelle Michiels
Sharon B Schwartz
Béatrice Bocquet
Aline Antonio
Claire Audier
Mélanie Letexier
Jean-Paul Saraiva
Tien D Luu
Florian Sennlaub
Hoan Nguyen
Olivier Poch
Hélène Dollfus
Odile Lecompte
Susanne Kohl
José-Alain Sahel
Shomi S Bhattacharya
Isabelle Audo
the Congenital Stationary Night Blindness Consortium
Elfride De Baere
Bart Leroy
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
2013
2012
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia
Susanne Kohl
Frauke Coppieters
Françoise Meire
Simone Schaich
Susanne Roosing
Christina Brennenstuhl
Sylvia Bolz
Maria M van Genderen
Frans CC Riemslag
the European Retinal Disease Consortium
Robert Lukowski
Anneke I den Hollander
Frans PM Cremers
Elfride De Baere
Carel B Hoyng
Bernd Wissinger
Bart Leroy
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
2012
Age-dependent ocular phenotype in hereditary hyperferritinaemia cataract syndrome (HHCS)
ELISE PLATTEAU
Kristien Hoornaert
Koen Moens
Bart Leroy
A1
Artikel in een tijdschrift
in
ACTA OPHTHALMOLOGICA
2012
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome
Alejandro Estrada-Cuzcano
Robert K Koenekoop
Audrey Senechal
Elfride De Baere
Thomy de Ravel
Sandro Banfi
Ssusanne Kohl
Carmen Ayuso
Dror Sharon
Carel B Hoyng
Christian P Hamel
Bart Leroy
Carmela Ziviello
Irma Lopez
Alexandre Bazinet
Bernd Wissinger
Ieva Sliesoraityte
Almudena Avila-Fernandez
Karin W Littink
Enzo M Vingolo
Sabrina Signorini
Eyal Banin
Liliana Mizrahi-Meissonnier
Eberhard Zrenner
Ulrich Kellner
Rob WJ Collin
Anneke I den Hollander
Frans PM Cremers
Jeroen Klevering
A1
Artikel in een tijdschrift
in
ARCHIVES OF OPHTHALMOLOGY
2012
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy
Alberta AHJ Thiadens
T My Lan Phan
Renate C Zekveld-Vroon
Bart Leroy
L Ingeborgh van den Born
Crel B Hoyng
Caroline CW Klaver
Susanne Roosing
Jan-Willem R Pott
Mary J van Schooneveld
Norka van Moll-Ramirez
Maria M van Genderen
Camiel JF Boon
Anneke I den Hollander
Arthur AB Bergen
Elfride De Baere
Frans PM Cremers
Andrew J Lotery
A1
Artikel in een tijdschrift
in
OPHTHALMOLOGY
2012
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies)
Simon C Ramsden
Alice E Davidson
Bart Leroy
Anthony T Moore
Andrew R Webster
Graeme CM Black
Forbes DC Manson
Redactioneel materiaal
2012
Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function
Ivan Cima
Jelka Brecelj
Maja Sustar
Frauke Coppieters
Bart Leroy
Elfride De Baere
Marko Hawlina
A1
Artikel in een tijdschrift
in
DOCUMENTA OPHTHALMOLOGICA
2012
Exploring the role of a novel disease gene RERG in early-onset retinal dystrophy and related conditions
Kristof Van Schil
Bart Leroy
Elfride De Baere
C3
Conferentie
2012
Identification de gènes candidats pour des dystrophies rétiniennes par des délétions homozygotes
Kristof Van Schil
Françoise Meire
Thomy De Ravel
Bart Leroy
Elfride De Baere
C3
Conferentie
2012
Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2
Hannah Verdin
Bart Leroy
Barbara D'haene
Frauke Coppieters
Steve Lefever
Philippe Kestelyn
Elfride De Baere
C3
Conferentie
2012
Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2
Hannah Verdin
Bart Leroy
Barbara D'haene
Frauke Coppieters
Steve Lefever
Philippe Kestelyn
Elfride De Baere
C3
Conferentie
2012
Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2
Hannah Verdin
Bart Leroy
Barbara D'haene
Frauke Coppieters
Steve Lefever
Philippe Kestelyn
Elfride De Baere
C3
Conferentie
2012
Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2
Hannah Verdin
Bart Leroy
Barbara D'haene
Frauke Coppieters
Steve Lefever
Philippe Kestelyn
Elfride De Baere
C3
Conferentie
2012
Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis
Frauke Coppieters
Bram De Wilde
Steve Lefever
Ellen De Meester
Nina De Rocker
Caroline Van Cauwenbergh
Filip Pattyn
Françoise Meire
Bart Leroy
Jan Hellemans
Jo Vandesompele
Elfride De Baere
A1
Artikel in een tijdschrift
in
GENETICS IN MEDICINE
2012
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement
Alejandro Estrada-Cuzcano
Kornelis Neveling
Susanne Kohl
Eyal Banin
Ygal Rotenstreich
Dror Sharon
Tzipora C Falik-Zaccai
Stephanie Hipp
Ronald Roepman
Bernd Wissinger
Stef JF Letteboer
Dorus A Mans
Ellen AW Blokland
Michael P Kwint
Sabine J Gijsen
Ramon AC van Huet
Rob WJ Collin
H Scheffer
Joris A Veltman
Eberhart Zrenner
the European Retinal Disease Consortium
Anneke I den Hollander
B Jeroen Klevering
Frans PM Cremers
Bart Leroy
Elfride De Baere
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
2012
Regulatory mutations in the 5'UTR of NMNAT1, encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis
Frauke Coppieters
Annelot Baert
Miriam Bauwens
Caroline Van Cauwenbergh
Sarah De Jaegere
Thomy de Ravel
Françoise Meire
Nouha Abdelmoula Bouayed
Lina Florentin-Arar
Bart Leroy
Elfride De Baere
C3
Conferentie
2012
Regulatory mutations in the 5'UTR of NMNAT1, encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis
Frauke Coppieters
Annelot Baert
Miriam Bauwens
Caroline Van Cauwenbergh
Sarah De Jaegere
Thomy de Ravel
Françoise Meire
Nouha Abdelmoula Bouayed
Lina Florentin-Arar
Bart Leroy
Elfride De Baere
C3
Conferentie
2012
Translational impact of VEGFA variants on the prediction and follow-up of ocular complications in pseudoxanthoma elasticum
Eva De Vilder
Mohammad Jakir Hosen
Ludovic Martin
Bart Leroy
Jean-Marc Ebran
Paul Coucke
Anne De Paepe
Olivier Vanakker
C3
Conferentie
2012
Translational impact of VEGFA variants on the prediction and follow-up of ocular complications in pseudoxanthoma elasticum
Eva De Vilder
Mohammad Jakir Hosen
Ludovic Martin
Bart Leroy
Jean-Marc Ebran
Paul Coucke
Anne De Paepe
Olivier Vanakker
C3
Conferentie
2012
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness
Isabelle Audo
Kinga Bujakowska
Elise Orhan
Charlotte M Poloschek
Sabine Defoort-Dhellemmes
Isabelle Drumare
Susanne Kohl
Tien D Luu
Odile Lecompte
Eberhart Zrenner
Marie-Elise Lancelot
Aline Antonio
Aurore Germain
Christelle Michiels
Claire Audier
Mélanie Letexier
Jean-Paul Saraiva
Bart Leroy
Francis L Munier
Saddek Mohand-Saïd
Birgit Lorenz
Christoph Friedburg
Markus Preising
Ulrich Kellner
Agnes B Renner
Veselina Moskova-Doumanova
Wolfgang Berger
Bernd Wissinger
Christian R Hamel
Daniel F Schorderet
Elfride De Baere
Dror Sharon
Eyal Banin
Samuel G Jacobson
Dominique Bonneau
Xavier Zanlonghi
Guylene Le Meur
Ingele Casteels
Robert Koenekoop
Vernon W Long
Françoise Meire
Katrina Prescott
Thomy de Ravel
Ian Simmons
Hoan Nguyen
Hélène Dollfus
Olivier Poch
Thierry Léveillard
Kim Nguyen-Ba-Charvet
José-Alain Sahel
Shomi S Bhattacharya
Christina Zeitz
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
2012
2011
Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa : evidence for a spectrum of ectopic calcification disorders?
Olivier Vanakker
Bart Leroy
Leon J Schurgers
Cees Vermeer
Paul Coucke
Anne De Paepe
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2011
Childhood onset autosomal recessive bestrophinopathy
Arundhati Dev Borman
Alice E Davidson
James O'Sullivan
Dorothy A Thompson
Anthony G Robson
Elfride De Baere
Graeme CM Black
Andrew R Webster
Graham E Holder
Bart Leroy
Forbes DC Manson
Anthony T Moore
Redactioneel materiaal
2011
Correction of the lower eyelid malpositioning in the blepharophimosis-ptosis-epicanthus inversus syndrome
CHRISTIAN DECOCK
Ilse Claerhout
Bart Leroy
Philippe Kestelyn
Akash D Shah
Elfride De Baere
A1
Artikel in een tijdschrift
in
OPHTHALMIC PLASTIC AND RECONSTRUCTIVE SURGERY
2011
Discordance for retinitis pigmentosa in two monozygotic twin pairs
LIEVE BERGHMANS
Regina Halfeld Furtado de Mendonça
Frauke Coppieters
Otacílio de Oliveira Maia Júnior
Walter Yukihiko Takahashi
Willy Lissens
Elfride De Baere
Bart Leroy
A1
Artikel in een tijdschrift
in
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES
2011
Etiological diagnosis in the hearing impaired newborn: proposal of a flow chart
Els De Leenheer
Sandra Janssens
Elizaveta Padalko
Delphine Loose
Bart Leroy
Ingeborg Dhooge
A1
Artikel in een tijdschrift
in
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
2011
Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa
Riza Köksal Özgül
Anna M Siemiatkowska
Didem Yücel
Connie A Myers
Rob WJ Collin
Marijke N Zonneveld
Avigail Beryozkin
Eyal Banin
Carel B Hoyng
L Ingeborgh van den Born
the European Retinal Disease Consortium
Ron Bose
Wei Shen
Dror Sharon
Frans PM Cremers
B Jeroen Klevering
Anneke I den Hollander
Joseph C Corbo
Elfride De Baere
Bart Leroy
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
2011
Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations
Barbara D'haene
Françoise Meire
Ilse Claerhout
Hester Y Kroes
Astrid Plomp
Yvonne H Arens
Thomy de Ravel
Ingele Casteels
Sarah De Jaegere
Sally Hooghe
Wim Wuyts
Jenneke van den Ende
Françoise Roulez
Hermine E Veenstra-Knol
Rogier A Oldenburg
Jacques Giltay
Johanna BGM Verheij
Jan-Tjeerd de Faber
Björn Menten
Anne De Paepe
Philippe Kestelyn
Bart Leroy
Elfride De Baere
A1
Artikel in een tijdschrift
in
INVESTIGATIVE OPHTHALMOLOGY
2011
Identification and characterization of molecular defects underlying retinal dystrophies
Frauke Coppieters
Elfride De Baere
Bart Leroy
Proefschrift
2011
Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2
Hannah Verdin
Barbara D'haene
Frauke Coppieters
Steve Lefever
Philippe Kestelyn
Bart Leroy
Elfride De Baere
C3
Conferentie
2011
Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2
Hannah Verdin
Barbara D'haene
Frauke Coppieters
Steve Lefever
Philippe Kestelyn
Bart Leroy
Elfride De Baere
C3
Conferentie
2011
Insights into levator muscle dysfunction in a cohort of patients with molecularly confirmed blepharophimosis-ptosis-epicanthus inversus syndrome using high-resolution imaging, anatomic examination and histopathologic examination
CHRISTIAN DECOCK
Elfride De Baere
WOUTER BAUTERS
Akash D Shah
Christophe Delaey
Ramses Forsyth
Bart Leroy
Philippe Kestelyn
Ilse Claerhout
A1
Artikel in een tijdschrift
in
ARCHIVES OF OPHTHALMOLOGY
2011
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response
Bernd Wissinger
Simone Schaich
Britta Baumann
Michael Bonin
Herbert Jägle
Christoph Friedburg
Balázs Varsányi
Carel B Hoyng
Hélène Dollfus
John R Heckenliyely
Thomas Rosenberg
Günter Rudolph
Ulrich Kellner
Roberto Salati
Astrid Plomp
Elfride De Baere
Monika Andrassi-Darida
Alexandra Sauer
Christiane Wolf
Ditta Zobor
Antje Bernd
Bart Leroy
Peter Enyedi
Frans PM Cremers
Birgit Lorenz
Eberhart Zrenner
Susanne Kohl
A1
Artikel in een tijdschrift
in
HUMAN MUTATION
2011
The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus
Mervyn G Thomas
Moira Crosier
Susan Lindsay
Anil Kumar
Shery Thomas
Masasuke Araki
Chris J Talbot
Rebecca J McLean
Mylvaganam Surendran
Katie Taylor
Bart Leroy
Anthony T Moore
David G Hunter
Richard W Hertle
Patrick Tarpey
Andrea Langmann
Susanne Lindner
Martina Brandner
Irene Gottlob
A1
Artikel in een tijdschrift
in
BRAIN
2011
The human visual cortex responds to gene therapy-mediated recovery of retinal function
Manzar Ashtari
Laura L Cyckowski
Justin F Monroe
Kathleen A Marshall
Daniel C Chung
Alberto Auricchio
Francesca Simonelli
Bart Leroy
Albert M Maguire
Kenneth S Shindler
Jean Bennett
A1
Artikel in een tijdschrift
in
JOURNAL OF CLINICAL INVESTIGATION
2011
2010
A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy
Rajarshi Mukhopadhyay
Panagiotis I Sergouniotis
Donna S Mackay
Alexander C Day
Genevieve Wright
Sophie Devery
Bart Leroy
Anthony G Robson
Graham E Holder
Zheng Li
Andrew R Webster
A1
Artikel in een tijdschrift
in
MOLECULAR VISION
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
Artikel in een tijdschrift
in
BRITISH JOURNAL OF OPHTHALMOLOGY
2010
Adult Refsum disease: a form of tapetoretinal dystrophy accessible to therapy
Klaus Rüether
Eleanor Baldwin
Minne Casteels
Michael D Feher
Morten Horn
Susan Kuranoff
Bart Leroy
Ronald J Wanders
Anthony S Wierzbicki
A1
Artikel in een tijdschrift
in
SURVEY OF OPHTHALMOLOGY
2010
CEP290, a gene with many faces : mutation overview and presentation of CEP290base
Frauke Coppieters
Steve Lefever
Bart Leroy
Elfride De Baere
A1
Artikel in een tijdschrift
in
HUMAN MUTATION
2010
DNA-chipanalyse in de moleculaire diagnostiek van genetisch heterogene aandoeningen : netvliesaandoeningen als voorbeeld
Frauke Coppieters
Caroline Van Cauwenbergh
Barbara D'haene
Steve Lefever
Anne De Paepe
Bart Leroy
Elfride De Baere
A2
Artikel in een tijdschrift
in
TIJDSCHRIFT VOOR GENEESKUNDE
2010
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes
Frauke Coppieters
Ingele Casteels
Françoise Meire
Sarah De Jaegere
Sally Hooghe
Nicole van Regemorter
Hilde Van Esch
Aušra Matulevičienė
Luis Nunes
VALERIE MEERSSCHAUT
SOPHIE WALRAEDT
Lieve Standaert
Paul Coucke
Heidi Hoeben
Hester Y Kroes
Johan Vande Walle
Thomy de Ravel
Bart Leroy
Elfride De Baere
A1
Artikel in een tijdschrift
in
HUMAN MUTATION
2010
Ptosis as an associated finding in maternally inherited diabetes and deafness
KIRSTEN ROBBERECHT
CHRISTIAN DECOCK
Annemie Stevens
Sara Seneca
Jan De Bleecker
Bart Leroy
A1
Artikel in een tijdschrift
in
OPHTHALMIC GENETICS
2010
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients
Kristien Hoornaert
Inge Vereecke
Chantal Dewinter
Thomas Rosenberg
Frits A Beemer
Juliaan Leroy
Laila Bendix
Erik Björck
Maryse Bonduelle
Odile Boute
Valerie Cormier-Daire
Christine De Die-Smulders
Anne Dieux-Coeselier
Hélène Dollfus
Mariet Eting
Andrew Green
Veronica I Guerci
Raoul CM Hennekam
Yvonne Hillhorts-Hofstee
Muriel Holder
Carel Hyong
Kristi J Jones
Dragana Josifova
Ilkka Kaittila
Suzanne Kjaergaard
Yolande H Kroes
Kristina Lagerstedt
Melissa Lees
Martine LeMerrer
Cinzia Magnani
Carlo Marcelis
Loreto Martorell
Michèle Mathieu
Meriel McEntagart
Angela Mendicino
Jenney Morton
Gabrielli Orazio
Véronique Paquis
Orit Reish
Kalle OJ Simola
Sarah F Smithson
Karen I Temple
Elisabeth Van Aken
Yolande Van Bever
Jenneke van den Ende
Johanna M Van Hagen
Leopoldo Zelante
Riina Zordiania
Anne De Paepe
Bart Leroy
Marc De Buyzere
Paul Coucke
Geert Mortier
A1
Artikel in een tijdschrift
in
EUROPEAN JOURNAL OF HUMAN GENETICS
2010
2009
A common NYX mutation in Flemish patients with X linked CSNB
Bart Leroy
BS Budde
M Wittmer
Elfride De Baere
W Berger
C Zeitz
A1
Artikel in een tijdschrift
in
BRITISH JOURNAL OF OPHTHALMOLOGY
2009
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial
AM Maguire
KA High
A Auricchio
EA Pierce
F Testa
F Mingozzi
J Bennicelli
CS Ying
C Acerra
A Fulton
KA Marshall
S Banfi
D Chung
JIW Morgan
B Hauck
O Zelanaia
X Zhu
L Raffini
Frauke Coppieters
Elfride De Baere
KS Shindler
NJ Volpe
EM Surance
S Rossi
A Lyubarsky
TM Redmond
E Stone
J Sun
JF Wright
J Wellman Mc Donnell
Bart Leroy
S Simonelli
Jean Bennett
A1
Artikel in een tijdschrift
in
Lancet
2009
Genotyping microarray for CSNB-associated genes
Christina Zeitz
Stephan Labs
Birgit Lorenz
Ursula Forster
Janne Uksti
Hester Y Kroes
Elfride De Baere
Bart Leroy
Frans PM Cremers
Mariana Wittmer
Maria M van Genderen
Jose-Alain Sahel
Iabelle Audo
Charlotte M Poloschek
Saddek Mohand-Said
Johannes C Fleischhauer
Ulrike Huffmeier
Veselina Moskova-Doumanova
Alex V Levin
Christian P Hamel
Dorothee Leifert
Francis L Munier
Daniel F Schorderet
Eberhart Zrenner
Christoph Friedburg
Bernd Wissinger
Susanne Kohl
Wolfgang Berger
A1
Artikel in een tijdschrift
in
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
2009
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders
Alberta AHJ Thiadens
Anneke I den Hollander
Susanne Roosing
Sander B Nabuurs
Renate C Zekveld-Vroon
Rob WJ Collin
Elfride De Baere
Robert K Koenekoop
Mary J van Schooneveld
Tim M Strom
Janneke JC van Lith-Verhoeven
Andrew J Lotery
Norka van Moll-Ramirez
Bart Leroy
L Ingeborgh van den Born
Carel B Hoyng
Frans PM Cremers
Caroline CW Klaver
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
2009
ORGANIC ACIDURIA AND LATE ONSET OPTIC ATROPHY
LJ De Meirleir
P Goyens
PATRICK VERLOO
Joél Smet
M Vandriessche
K Corthouts
Bart Leroy
Rudy Van Coster
C3
Conferentie
2009
TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness
I Audo
S Kohl
Bart Leroy
FL Munier
X Guillonneau
S Mohand-Saïd
K Bujakowska
E Nandrot
B Lorenz
M Preising
U Kellner
A Renner
A Bernd
A Antonio
M Moskova-Doumanova
ME Lancelot
CM Poloschek
I Drumare
S Defoort-Dhellemmes
B Wissinger
T Léveillard
CP Hamel
DF Schroderet
Elfride De Baere
W Berger
SG Jacobson
E Zrenner
JA Sahel
SS Battacharya
C Zeitz
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
2009
The spectrum of ocular phenotypes caused by mutations in the BEST1 gene
Camiel JF Boon
B Jeroen Klevering
Bart Leroy
Carel B Hoyng
Jan EE Keunen
Anneke I den Hollander
A1
Artikel in een tijdschrift
in
PROGRESS IN RETINAL AND EYE RESEARCH
2009
2008
Biallelic mutation of BEST1 causes a distinct retinopathy in humans
R Burgess
ID Millar
Bart Leroy
JE Urquhart
IM Fearon
Elfride De Baere
PD Brown
AG Robson
GA Wright
PHILIPPE ADRIAAN KESTELYN
GE Holder
AR Webster
FDC Manson
GCM Black
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
2008
Cancer-associated retinopathy (CAR) with electronegative ERG: a case report
Griet Goetgebuer
Anna-Maria Kestelyn-Stevens
Jean-Jacques De Laey
Philippe Kestelyn
Bart Leroy
A1
Artikel in een tijdschrift
in
DOCUMENTA OPHTHALMOLOGICA
2008
Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome
DIANE BEYSEN
Sarah De Jaegere
David Amor
Philippe Bouchard
Sophie Christin-Maitre
Marc Fellous
Philippe Touraine
Arthur W Grix
Raoul Hennekam
Françoise Meire
Nina Oyen
Louise C Wilson
Dalit Barel
Jill Clayton-Smith
Thomas de Ravel
CHRISTIAN DECOCK
Patricia Delbeke
Regina Ensenauer
Friedrich Ebinger
Gabriele Gillessen-Kaesbach
Yvonne Hendrikx
Virginia Kimonis
Rachel Laframboise
Paul Laissue
Kathleen Leppig
Bart Leroy
David T Miller
David Mowat
Luitgard Neumann
Astrid Plomp
Nicole Van Regenmorter
Dagmar Wieczorek
Reiner A Veitia
Anne De Paepe
Elfride De Baere
A1
Artikel in een tijdschrift
in
HUMAN MUTATION
2008
Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation
DIANE BEYSEN
Lara Moumne
Reiner Veitia
Hartmut Peters
Bart Leroy
Anne De Paepe
Elfride De Baere
A1
Artikel in een tijdschrift
in
HUMAN MOLECULAR GENETICS
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
Lionel G Bercovitch
Jouni Uitto
Dennis Viljoen
Sharon F Terry
Petra Van Acker
Dirk Matthys
Bart Loeys
Anne De Paepe
A2
Artikel in een tijdschrift
in
HUMAN MUTATION
2008
Ocular features of treatable lysosomal storage disorders: Fabry disease, mucopolysaccharidoses I, II, VI, and Gaucher disease
Ines M Lanzl
Bart Leroy
A2
Artikel in een tijdschrift
in
EUROPEAN OPHTHALMIC REVIEW
2008
Orbital cyst and bilaterel colobomatous microphthalmos Reply
CHRISTIAN DECOCK
C.M. Breusegem
Bart Leroy
A1
Artikel in een tijdschrift
in
BRITISH JOURNAL OF OPHTHALMOLOGY
2008
Vitamin A deficiency during pregnancy and congenital microphthalmos
CHRISTIAN DECOCK
CM Breusegem
Bart Leroy
Redactioneel materiaal
2008
2007
Development of a genotyping microarray for Usher syndrome
Frans PM Cremers
William J Kimberling
Maigi Külm
Arjan P de Brouwer
Erwin van Wijk
Heleen te Brinke
Cor WRJ Cremers
Lies H Hoefsloot
Sandro Banfi
Francesca Simonelli
Johannes C Fleischhauer
Wolfgang Berger
Phil M Kelley
Elene Haralambous
Maria Bitner-Glindzicz
Andrew R Webster
Zubin Saihan
Elfride De Baere
Bart Leroy
Giuliana Silvestri
Gareth J McKay
Robert K Koenekoop
Jose M Millan
Thomas Rosenberg
Tarja Joensuu
Eeva-Marja Sankila
Dominique Weil
Mike D Weston
Bernd Wissinger
Hannie Kremer
A1
Artikel in een tijdschrift
in
JOURNAL OF MEDICAL GENETICS
2007
High β-trace protein concentration in the fluid of an orbital cyst associated with bilateral colobomatous microphthalmos
CHRISTIAN DECOCK
Christoph Breusegem
Elisabeth Van Aken
Bart Leroy
Redactioneel materiaal
2007
Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa
Bart Leroy
A Kailasanathan
Jean Delaey
GCM Black
FDC Manson
A1
Artikel in een tijdschrift
in
BRITISH JOURNAL OF OPHTHALMOLOGY
2007
Preliminary screening results for fabry disease in young stroke patients reveals a new mutation
Dimitri Hemelsoet
Bruce Poppe
Anne Sieben
Frederik Vanhee
Pascal Proot
M De Clerck
Bart Leroy
Julie De Backer
BIRGIT WUYTS
LJ De Meirleir
Jacques De Reuck
C3
Conferentie
2007
Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?
Isabelle Audo
Olivier Vanakker
Alaric Smith
Bart Leroy
Anthony G Robson
Sharon A Jenkins
Paul Coucke
Alan C Bird
Anne De Paepe
Graham E Holder
Andrew R Webster
A1
Artikel in een tijdschrift
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
Ludovic Martin
Dealba Gheduzzi
Bart Leroy
Bart Loeys
Veronica I Guerci
Dirk Matthys
Sharon F Terry
Paul Coucke
Ivonne Pasquali-Ronchetti
Anne De Paepe
A1
Artikel in een tijdschrift
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
Kirsten Robberecht
Wim Wuyts
Paul Coucke
Elfride De Baere
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
2007
Two cases of acute macular neuroretinopathy
H.D. Corver
J. Ruys
A.-M. Kestelyn-Stevens
J.-J. De Laey
Bart Leroy
A1
Artikel in een tijdschrift
in
EYE
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
H DIETZ
Anne De Paepe
A1
Artikel in een tijdschrift
in
CLINICAL GENETICS
2007
2006
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis
Suzanne Yzer
Bart Leroy
Elfride De Baere
Thomy J de Ravel
Marijke N Zonneveld
Krysta Voesenek
Ulrich Kellner
Jose P Martinez Ciriano
Jan-Tjeerd HN de Faber
Klaus Rohrschneider
Ronald Roepman
Anneke I den Hollander
Johannes R Cruysberg
Françoise Meire
Ingele Casteels
Norka G van Moll-Ramirez
Rando Allikmets
L Ingeborgh van den Born
Frans PM Cremers
A1
Artikel in een tijdschrift
in
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
2006
Retinal vessel dilation following repletion of vitamin A deficiency
M Larsen
R Pedersen
NCBB Taarnhøj
Ylvie Spits
IC Munch
Bart Leroy
K Klemp
A1
Artikel in een tijdschrift
in
EXPERIMENTAL EYE RESEARCH
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
Frédérique Van Robaeys
Bart Leroy
Paul Coucke
Anne De Paepe
A1
Artikel in een tijdschrift
in
BRITISH JOURNAL OF RADIOLOGY
2006
2005
Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in Blepharophimosis syndrome
Diane Beysen
Jeroen Raes
Bart Leroy
A Lucassen
JRW Yates
J Clayton-Smith
H Ilyina
SS Brooks
S Christin-Maitre
Marc Fellous
Jean-Pierre Fryns
JR Kim
P Lapunzina
E Lemyre
Françoise Meire
Ludwine Messiaen
C Oley
M Splitt
J Thomson
Yves Van de Peer
RA Veitia
Anne De Paepe
Elfride De Baere
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
2005
Mutations in VMD2 cause autosomal dominant vitreoretinochoroidopathy (ADVIRC)
Bart Leroy
J YARDLEY
N HART-HOLDEN
Bart Lafaut
B PUECH
MA REDDY
Jean Delaey
Philippe Kestelyn
AT MOORE
GCM BLACK
C3
Conferentie
2005
Myopia: more than a refractive error: Lasik and retinal dystrophies
SOPHIE WALRAEDT
Bart Leroy
Philippe Kestelyn
Jean Delaey
A4
Artikel in een tijdschrift
in
BULLETIN DE LA SOCIETE BELGE D'OPHTALMOLOGIE
2005
Reversible visual deficit and corpus callosum lesions due to metronidazole toxicity
Jan De Bleecker
Bart Leroy
Veronique I Meire
A1
Artikel in een tijdschrift
in
EUROPEAN NEUROLOGY
2005
2004
A new type of autosomal recessive spondyloepiphyseal dysplasia tarda
Juliaan Leroy
Bart Leroy
LV Emmery
Ludwine Messiaen
JW Spranger
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2004
Centrale en perifere neurologische toxiciteit door metronidazol
Françoise Meire
Bart Leroy
Jan De Bleecker
A2
Artikel in een tijdschrift
in
TIJDSCHRIFT VOOR NEUROLOGIE EN NEUROCHIRURGIE
2004
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC)
Jill Yardley
Bart Leroy
Niki Hart-Holden
Bart Lafaut
Bart Loeys
Ludwine Messiaen
Rahat Perveen
M Ashwin Reddy
Shomi S Bhattacharya
Elias Traboulsi
Diana Baralle
Jean Delaey
Bernard Puech
Philippe Kestelyn
Anthony T Moore
Forbes DC Manson
Graeme CM Black
A1
Artikel in een tijdschrift
in
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
2004
Progressive cone dystrophy and sensorineural hearing loss
Julie Witters
Julie De Zaeytijd
Monique Leys
Bart Leroy
A4
Artikel in een tijdschrift
in
BULLETIN DE LA SOCIETE BELGE D'OPHTALMOLOGIE
2004
Progressive rod-cone dystrophy with subacute angle-closure glaucoma
Bart Leroy
Julie Witters
Jean Delaey
Philippe Kestelyn
C3
Conferentie
2004
Rapid recovery of night blindness due to obesity surgery after vitamin A repletion therapy
Ylvie Spits
Jean Delaey
Bart Leroy
A1
Artikel in een tijdschrift
in
BRITISH JOURNAL OF OPHTHALMOLOGY
2004
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations
Sharola Dhamaraj
Bart Leroy
Melanie M Sohocki
Robert K Koenekoop
Isabelle Perrault
Khalid Anwar
Shagufta Khaliq
R Summathie Devi
David G Birch
Elaine De Pool
Natalio Izquierdo
Lionel Van Maldergem
Mohammad Ismail
Annette M Payne
Graham E Holder
Shomi S Bhattacharya
Alan C Bird
Josseline Kaplan
Irene H Maumenee
A1
Artikel in een tijdschrift
in
ARCHIVES OF OPHTHALMOLOGY
2004
2003
Alport syndrome and conjunctival telangiectasia
CHRISTIAN DECOCK
Jean Delaey
Bart Leroy
Philippe Kestelyn
A4
Artikel in een tijdschrift
in
BULLETIN DE LA SOCIETE BELGE D'OPHTALMOLOGIE
2003
Clinical features & retinal function in patients with Adult Refsum Syndrome
Bart Leroy
CR Hogg
PR Rath
V McBain
Philippe Kestelyn
AC Bird
GE Holder
A1
Artikel in een tijdschrift
in
Advances in Experimental Medicine and Biology
2003
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation
Elfride De Baere
DIANE BEYSEN
Christine Oley
Birgit Lorenz
Julie Cocquet
Petra De Sutter
Koen Devriendt
Michael Dixon
Marc Fellous
Jean-Pierre Fryns
Arturo Garza
Christoffer Jonsrud
Pasi A Koivisto
Amanda Krause
Bart Leroy
Françoise Meire
Astrid Plomp
Lionel Van Maldergem
Anne De Paepe
Reiner Veitia
Ludwine Messiaen
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
2003
Leber congenital amaurosis
Bart Leroy
Sharola Dharmaraj
Hoofdstuk in een boek
in
Orphanet encyclopedia
2003
The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK
DC Blaydon
RF Mueller
TP Hutchin
Bart Leroy
SS Bhattacharya
AC Bird
S Malcolm
M Bitner-Glindzicz
A1
Artikel in een tijdschrift
in
CLINICAL GENETICS
2003
2002
Genetic causes of retinal blindness
Jean Delaey
Bart Leroy
A2
Artikel in een tijdschrift
in
SAUDI JOURNAL OF OPHTHALMOLOGY
2002
Novel insights in genotype-phenotype correlations in BPES through in-depth FOXL2 mutation analysis
Elfride De Baere
Diane Beysen
C OLEY
Petra De Sutter
A GARZA
C JONSRUD
P KOIVISTO
Bart Leroy
B LORENZ
Françoise Meire
A PLOMP
L VAN MALDERGERN
Anne De Paepe
J COCQUET
M FELLOUS
R VEITIA
Ludwine Messiaen
C3
Conferentie
2002
2001
Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree.
Bart Lafaut
Bart Loeys
Bart Leroy
W Spileers
Jean Delaey
Philippe Kestelyn
A1
Artikel in een tijdschrift
in
GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
2001
Locus for autosomal recessive nonsyndromic persistent hyperplastic primary vitreous
Shagufta Khaliq
Abdul Hameed
Muhammad Ismail
Khalid Anwar
Bart Leroy
Annette M Payne
Shomi S Bhattachyara
S Qasim Mehdi
A1
Artikel in een tijdschrift
in
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
2001
Mesopic visual acuity requirements for driving licences in the European Union research report
A Uvijls
R Baets
Bart Leroy
Philippe Kestelyn
A4
Artikel in een tijdschrift
in
BULLETIN DE LA SOCIETE BELGE D'OPHTALMOLOGIE
2001
Spectrum and distribution of FOXL2 gene mutations and variants in BPES, POF and XX male patients: tentative genotype-phenotype correlation
Elfride De Baere
M DIXON
K SMALL
E JABS
Bart Leroy
K DEVRIENDT
Y GILLEROT
Geert Mortier
Françoise Meire
L VAN MALDERGEM
H HJALGRIM
S HUANG
I LIEBAERS
Anne De Paepe
M FELIOUS
R VEITIA
Ludwine Messiaen
C3
Conferentie
2001
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation
Elfride De Baere
Michael J Dixon
Kent W Small
Ethylin W Jabs
Bart Leroy
Koenraad Devriendt
Yves Gillerot
Geert Mortier
Françoise Meire
Lioinel Van Maldergem
Winnie Courtens
Helle Hjalgrim
Shangzhi Huang
Inge Liebaers
Nicole Van Regemorter
Philippe Touraine
Veraynth Praphanphoj
Alain Verloes
Nitin Udar
Vivek Yellore
Meenal Chalukya
Svetlana Yelchits
Anne De Paepe
Frédérique Kuttenn
Marc Fellous
Reiner Veitia
Ludwine Messiaen
A1
Artikel in een tijdschrift
in
HUMAN MOLECULAR GENETICS
2001
Spectrum of mutations in USH2A in British patients with Usher syndrome type II
Bart Leroy
José A Aragon-Martin
Michael D Weston
David AR Bessant
Catherine Willis
Andrew R Webster
Alan C Bird
William J Kimberling
Annette M Payne
Shomi S Bhattacharya
A1
Artikel in een tijdschrift
in
EXPERIMENTAL EYE RESEARCH
2001
2000
Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma
Ordan J Lehmann
Neil D Ebenezer
Tim Jordan
Margaret Fox
Luise Ocaka
Annette Payne
Bart Leroy
Brian J Clark
Roger A Hitchings
Sue Povey
Peng T Khaw
Shomi S Bhattacharya
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
2000
Novel locus for autosomal recessive cone-rod dystrophy CORD8 mapping to chromosome 1q12-Q24
Shagufta Khaliq
Abdul Hameed
Myhammad Ismail
Khalid Anwar
Bart Leroy
S Qasim Mehdi
Annette M Payne
Shomi S Bhattacharya
A1
Artikel in een tijdschrift
in
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
2000
Prevalence of AIPL1 mutations in inherited retinal degenerative disease
Melanie M Sohocki
Isabelle Perrault
Bart Leroy
Annette M Payne
Sharola Dharmaraj
Shomi S Bhattacharya
Josseline Kaplan
Irene H Maumenee
Robert Koenekoop
Françoise Meire
David G Birch
John R Heckenlively
Stephen P Daiger
A1
Artikel in een tijdschrift
in
MOLECULAR GENETICS AND METABOLISM
2000
RP1 protein truncating mutations predominate at the RP1 adRP locus
Annette Payne
Eranga Vithana
Shagufta Khaliq
Abdul Hameed
Jane Deller
Leen Abu-Safieh
Sana Kermani
Bart Leroy
S Qasim Mehdi
Anthony T Moore
Alan C Bird
Shomi S Bhattacharya
A1
Artikel in een tijdschrift
in
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
2000
1998
A large field panel D-15 test for low vision patients
A Uvijls
Bart Leroy
Monique Leys
A De Rouck
Philippe Kestelyn
A4
Artikel in een tijdschrift
in
BULLETIN DE LA SOCIETE BELGE D'OPHTALMOLOGIE
1998
1997
Colour vision and colour vision deficiencies
A Uvijls
V Mortier
Bart Leroy
Andere
1997
1996
Neuropsychological aspects of Marfan syndrome
Engelien Lannoo
Anne De Paepe
Bart Leroy
Evert Thiery
A1
Artikel in een tijdschrift
in
CLINICAL GENETICS
1996
Ophthalmological signs of tuberous sclerosis
Bart Leroy
D Carton
Jean Delaey
A4
Artikel in een tijdschrift
in
BULLETIN DE LA SOCIETE BELGE D'OPHTALMOLOGIE
1996
Refined genetic and physical mapping of BPES type II
Ludwine Messiaen
Bart Leroy
Sylvia De Bie
K De Pauw
Nadine Van Roy
Franki Speleman
G Van Camp
Anne De Paepe
A1
Artikel in een tijdschrift
in
EUROPEAN JOURNAL OF HUMAN GENETICS
1996
1995
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): clinical subtypes and their genotype
Bart Leroy
Ludwine Messiaen
Nadine Van Roy
Franki Speleman
Anne De Paepe
C3
Conferentie
1995
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): report of a large family
Bart Leroy
H Vermeersch
Franki Speleman
Nadine Van Roy
L Messiaen
Anne De Paepe
C3
Conferentie
1995
1994
Ocular anomalies in an unbalanced translocation between chromosomes 7 and 8
G Vereecken
Bart Leroy
Franki Speleman
Michel Hanssens
Françoise Meire
A4
Artikel in een tijdschrift
in
BULLETIN DE LA SOCIETE BELGE D'OPHTALMOLOGIE
1994
1992
T-cell receptor expression in patients with rheumatic diseases
Filip De Keyser
Dominique Benoit
Dirk Elewaut
Bart Leroy
Anne-Marie Malfait
August Verbruggen
Eric Veys
A1
Artikel in een tijdschrift
in
PROGRESS IN HISTOCHEMISTRY AND CYTOCHEMISTRY
1992
T-cell receptor expression in patients with rheumatic diseases
Filip De Keyser
Dominique Benoit
Dirk Elewaut
Bart Leroy
Anne-Marie Malfait
August Verbruggen
Eric Veys
P1
Conferentie
1992
Mutations in Usherin in British patients with Usher syndrome type 2
Bart Leroy
JA ARAGON-MARTIN
MD WESTON
DAR BESSANT
C WILLIS
AC BIRD
WJ KIMBERLING
A2
Artikel in een tijdschrift
in
Exp. Eye Res., 72, 2001, 503-509.