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Onderzoeker
Elfride De Baere
Profiel
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Publicaties
Activiteiten
Prijzen & Erkenningen
461
Resultaten
2025
A novel recurrent ARL3 variant c.209G>A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models
Julio C Corral-Serrano
Veronika Vaclavik
Stijn Van de Sompele
Karolina Kaminska
Katarina Jovanovic
Pascal Escher
Filip Van Den Broeck
Francesca Cancellieri
Vasileios Toulis
Bart Leroy
et al.
A1
Artikel in een tijdschrift
in
HUMAN MOLECULAR GENETICS
2025
Autistic behavior is a common outcome of biallelic disruption of PDZD8 in humans and mice
Andreea D. Pantiru
Stijn Van de Sompele
Clemence Ligneul
Camille Chatelain
Christophe Barrea
Jason P. Lerch
Beatrice M. Filippi
Serpil Alkan
Elfride De Baere
Jamie Johnston
et al.
A1
Artikel in een tijdschrift
in
MOLECULAR AUTISM
2025
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy
Karolina Kaminska
Francesca Cancellieri
Mathieu Quinodoz
Abigail R. Moye
Miriam Bauwens
Siying Lin
Lucas Janeschitz-Kriegl
Tamar Hayman
Pilar Barberán-Martínez
Regina Schlaeger
et al.
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
2025
Characterising the refractive error in paediatric patients with congenital stationary night blindness : a multicentre study
Austin D. Igelman
Elizabeth White
Alaa Tayyib
Lesley Everett
Ajoy Vincent
Elise Heon
Christina Zeitz
Michel Michaelides
Omar A. Mahroo
Mohamed Katta
et al.
A1
Artikel in een tijdschrift
in
BRITISH JOURNAL OF OPHTHALMOLOGY
2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa
Mathieu Quinodoz
Kim Rodenburg
Zuzana Cvackova
Karolina Kaminska
Suzanne E de Bruijn
Ana Belén Iglesias-Romero
Erica G M Boonen
Mukhtar Ullah
Nick Zomer
Marc Folcher
et al.
Preprint
2025
Elevated plasma complement factors in CRB1-associated inherited retinal dystrophies
Lude Moekotte
Joke H. de Boer
Sanne Hiddingh
Aafke de Ligt
Xuan-Thanh-An Nguyen
Carel B. Hoyng
Chris F. Inglehearn
Martin Mckibbin
Tina M. Lamey
Jennifer A. Thompson
et al.
A1
Artikel in een tijdschrift
in
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
2025
Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants
Miriam Bauwens
Vincent De Man
Isabelle Audo
Irina Balikova
Wadih M. Zein
Vasily Smirnov
Sebastian Held
Sascha Vermeer
Elke Loos
Julie Jacob
et al.
A1
Artikel in een tijdschrift
in
CLINICAL GENETICS
2025
Inherited retinal disease gene panel in posterior or panuveitis with dystrophic features
Stéphane Abramowicz
Audrey Meunier
Dafina Draganova
Laure Caspers
Marieke De Bruyne
Stijn Van de Sompele
Elfride De Baere
Bart Leroy
Laurence Postelmans
François Willermain
A1
Artikel in een tijdschrift
in
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES
2025
Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort
Lieselot Vincke
Kristof Van Schil
Hamid Ahmadieh
Afrooz Moghaddasi
Hamideh Sabbaghi
Narsis Daftarian
Tahmineh Motevasseli
Leila Javanparast Sheykhani
Mohammadreza Dehghani
Mohammad Yahya Vahidi Mehrjardi
et al.
A1
Artikel in een tijdschrift
in
NPJ GENOMIC MEDICINE
2025
omicsGMF: a multi-tool for dimensionality reduction, batch correction and imputation applied to bulk- and single cell proteomics data
Alexandre Segers
Cristian Castiglione
Christophe Vanderaa
Elfride De Baere
Lennart Martens
Davide Risso
Lieven Clement
Preprint
2025
2024
A proteogenomic atlas of the human neural retina
Tabea V. Riepe
Merel Stemerdink
Renee Salz
Alfredo Dueñas Rey
Suzanne E. de Bruijn
Erica Boonen
Tomasz Z. Tomkiewicz
Michael Kwint
Jolein Gloerich
Hans J. C. T. Wessels
et al.
A1
Artikel in een tijdschrift
in
FRONTIERS IN GENETICS
2024
Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform
Marta del Pozo Valero
Basamat Almoallem Mohammed
Alfredo Dueñas Rey
Quinten Mahieu
Mattias Van Heetvelde
Laila Jeddawi
Miriam Bauwens
Elfride De Baere
A1
Artikel in een tijdschrift
in
CLINICAL GENETICS
2024
CRISPR/Cas9 mediated disruption of an evolutionary conserved putative enhancer in the mab21l2 locus induces developmental eye anomalies in Xenopus tropicalis
Münevver Burcu Cicekdal
Fabiola Ceroni
Richard Holt
Thomas Naert
Soeren S. Lienkamp
Elena Sorokin
Elena Semina
Nicolas Chassaing
Nicola Ragge
Elfride De Baere
et al.
C3
Conferentie
2024
Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy
Cansu de Muijnck
Lonneke Haer-Wigman
Judith A. M. van Everdingen
Tanya Lushchyk
Pam A. T. Heutinck
Marieke F. van Dooren
Anneke J. A. Kievit
Virginie J. M. Verhoeven
Marleen E. H. Simon
Rosemarie A. Wasmann
et al.
A1
Artikel in een tijdschrift
in
SCIENTIFIC REPORTS
2024
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease
Alfredo Dueñas Rey
Marta del Pozo Valero
Manon Bouckaert
Katherine A. Wood
Filip Van Den Broeck
Malena Daich Varela
Huw B. Thomas
Mattias Van Heetvelde
Marieke De Bruyne
Stijn Van de Sompele
et al.
A1
Artikel in een tijdschrift
in
GENOME MEDICINE
2024
Comparative 3D genome analysis between neural retina and retinal pigment epithelium reveals differential cis-regulatory interactions at retinal disease loci
Eva D'haene
Victor Lopez Soriano
Pedro Manuel Martínez-García
Soraya Kalayanamontri
Alfredo Dueñas Rey
Ana Sousa-Ortega
Silvia Naranjo
Stijn Van de Sompele
Lies Vantomme
Quinten Mahieu
et al.
A1
Artikel in een tijdschrift
in
GENOME BIOLOGY
2024
Decoding the non-coding regulatory genome : modelling of eye enhancerophathies in Xenopus tropicalis
Münevver Burcu Cicekdal
Kris Vleminckx
Elfride De Baere
Thomas Naert
Proefschrift
2024
Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development
Fabiola Ceroni
Münevver Burcu Cicekdal
Richard Holt
Elena Sorokina
Nicolas Chassaing
Samuel Clokie
Thomas Naert
Lidiya V. Talbot
Sanaa Muheisen
Dorine A. Bax
et al.
A1
Artikel in een tijdschrift
in
NATURE COMMUNICATIONS
2024
Diagnostic yield of an inherited retinal disease gene panel in retinopathy of unknown origin
Stéphane Abramowicz
Audrey Meunier
Laurence Postelmans
Laure Caspers
Francis Corazza
Marieke De Bruyne
Stijn Van de Sompele
Elfride De Baere
Bart Leroy
François Willermain
et al.
A1
Artikel in een tijdschrift
in
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES
2024
ERN-EYE virtual clinic for rare eye diseases as a successful effort towards solving complex and rare ophthalmic conditions in Europe
Monika Grudzinska Pechhacker
Francesco Rotolo
Dorothee Leroux
Amelie Gavard
Caroline Wernert-Iberg
Maximin Begin
Bernard Coupez
Petra Liskova
Daniel Boehringer
Frank G. Holz
et al.
C3
Conferentie
2024
Evolutionary origin of Hoxc13-dependent skin appendages in amphibians
Marjolein Carron
Attila Placido Sachslehner
Münevver Burcu Cicekdal
Inge Bruggeman
Suzan Demuynck
Bahar Golabi
Elfride De Baere
Wim Declercq
Erwin Tschachler
Kris Vleminckx
et al.
A1
Artikel in een tijdschrift
in
NATURE COMMUNICATIONS
2024
Eye2Gene: a novel AI algorithm enables phenotype-driven gene prioritisation directly from retinal scans in inherited retinal diseases
Nikolas Pontikos
William Woof
Miriam Bauwens
Saoud Al-Khuzaei
Behnam Javanmardi
Michalis Georgiou
Malena Daich Varela
Thales Antonio Cabral De Guimaraes
Muhammad Moghul
Alice Davidson
et al.
C3
Conferentie
2024
Genetic testing of patients with inherited retinal diseases in the European countries : an international survey by the European Vision Institute
Giacomo Calzetti
Kerstin Schwarzwalder
Giorgia Ottonelli
Karolina Kaminska
Rupert Wolfgang Strauss
Elfride De Baere
Bart Leroy
Isabelle Audo
Christina Zeitz
Claus Cursiefen
et al.
A1
Artikel in een tijdschrift
in
OPHTHALMIC RESEARCH
2024
In memory of Ludwine Messiaen, Ph.D. (1956-2024)
Elfride De Baere
Eric Legius
Reiner A. Veitia
Kathleen Claes
Biografie
2024
Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant
Cécile Brachet
Alexander Laemmle
Martine Cools
Kay-Sara Sauter
Elfride De Baere
Arnaud Vanlander
Amit V Pandey
Therina du Toit
Clarissa D Voegel
Claudine Heinrichs
et al.
A1
Artikel in een tijdschrift
in
EUROPEAN JOURNAL OF ENDOCRINOLOGY
2024
Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant
Cecile Brachet
Alexander Laemmle
Martine Cools
Kay-Sara Sauter
Elfride De Baere
Arnaud Vanlander
Amit V. Pandey
Therina Du Toit
Clarissa D. Voegel
Claudine Heinrichs
et al.
C3
Conferentie
2024
Juggling offsets unlocks RNA-seq tools for fast scalable differential usage, aberrant splicing and expression analyses
Alexandre Segers
Jeroen Gilis
Mattias Van Heetvelde
Elfride De Baere
Lieven Clement
Preprint
2024
Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci
Victor Lopez Soriano
Alfredo Dueñas Rey
Rajarshi Mukherjee
Frauke Coppieters
Miriam Bauwens
Andy Willaert
Elfride De Baere
A1
Artikel in een tijdschrift
in
NATURE COMMUNICATIONS
2024
Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction
Miriam Bauwens
Elifnaz Celik
Dinah Zur
Siying Lin
Mathieu Quinodoz
Michel Michaelides
Andrew R Webster
Filip Van Den Broeck
Bart Leroy
Leah Rizel
et al.
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
2024
Proof-of-concept for multiple AON delivery by a single U7snRNA vector to restore splicing defects in ABCA4
Nuria Suárez-Herrera
Iris B. Riswick
Irene Vázquez-Domínguez
Lonneke Duijkers
Dyah W. Karjosukarso
Davide Piccolo
Miriam Bauwens
Elfride De Baere
Michael E. Cheetham
Alejandro Garanto
et al.
A1
Artikel in een tijdschrift
in
MOLECULAR THERAPY
2024
Regulation of non-canonical expression of ABCA4 by an RPE-specific enhancer with implications in ABCA4-associated disease
Victor Lopez Soriano
Alfredo Dueñas Rey
Giulia Ascari
Münevver Burcu Cicekdal
Eva D'haene
Quinten Mahieu
Hanna De Saffel
Andy Willaert
Kris Vleminckx
Juan Jesus Tena-Aguilar
et al.
C3
Conferentie
2024
Single domain antibodies to tackle autosomal dominant retinitis pigmentosa caused by NR2E3 mutation G56R
Edith De Bruycker
Olivier Zwaenepoel
Jasper Zuallaert
Frauke Coppieters
Elfride De Baere
Jan Gettemans
U
Conferentie
2024
Structural variants disrupt a critical regulatory region downstream of FOXG1
Lisa Hamerlinck
Eva D'haene
Nore Van Loon
Maria del Rocio Pérez Baca
Sarah Vergult
Bert Callewaert
Elfride De Baere
Björn Menten
Lies Vantomme
Michael B Vaughan
C3
Conferentie
2024
The clinical use of exome sequencing to diagnose PCD patients
Lore Pottie
Sofie Symoens
Elfride De Baere
Kathleen Claes
C3
Conferentie
2024
The retina-specific 3D genome and the impact of structural variation in inherited retinal disease
Eva D'haene
Pedro Manuel Martínez-García
Lara Colombo
Victor Sanchez Gaya
Alvaro Rada-Iglesias
Sarah Vergult
Susanne Kohl
Juan Ramon Martinez-Morales
Miriam Bauwens
Juan J Tena
et al.
C3
Conferentie
2024
Towards uncovering the role of incomplete penetrance in maculopathies through sequencing of 105 disease-associated genes
Rebekkah J. Hitti-Malin
Daan M. Panneman
Zelia Corradi
Erica G. M. Boonen
Galuh Astuti
Claire-Marie Dhaenens
Heidi Stoehr
Bernhard H. F. Weber
Dror Sharon
Eyal Banin
et al.
A1
Artikel in een tijdschrift
in
BIOMOLECULES
2024
Uncovering the role of non-coding regulatory variation in inherited retinal disease
Alfredo Dueñas Rey
Frauke Coppieters
Elfride De Baere
Miriam Bauwens
Proefschrift
2024
2023
A systematic approach to characterize the contribution of 5'UTR variation to inherited retinal disease
Alfredo Dueñas Rey
Manon Bouckaert
Marta del Pozo Valero
Marieke De Bruyne
Mattias Van Heetvelde
Jamie Ellingford
Gavin Arno
Andrew Webster
Carmen Ayuso
Carlo Rivolta
et al.
C3
Conferentie
2023
An in vitro enzymatic assay to elucidate the VUS problem in RPE65, a target for retinal gene therapy
Eline Van Vooren
Suzanne Kohl
Carlo Rivolta
Bart Leroy
Miriam Bauwens
Elfride De Baere
C3
Conferentie
2023
An in vitro enzymatic assay to elucidate the VUS problem in RPE65, a target for retinal gene therapy
Eline Van Vooren
Suzanne Kohl
Carlo Rivolta
Bart Leroy
Miriam Bauwens
Elfride De Baere
C3
Conferentie
2023
An integrated approach using multi-omics data to dissect cis-regulatory role of ultraconserved non-coding elements (UCNEs) in human retina
Victor Lopez Soriano
Alfredo Dueñas Rey
Stijn Van de Sompele
Frauke Coppieters
Andrew Webster
Miriam Bauwens
Elfride De Baere
C3
Conferentie
2023
BeSolveRD : the Belgian genome resource to resolve rare diseases
Mathilde Geysens
Wouter Bossuyt
Elfride De Baere
Kim De Leeneer
Koenraad Devriendt
Annelies Dheedene
Aime Lumaka
Jeroen Luyten
Gert Matthijs
Björn Menten
et al.
C3
Conferentie
2023
Benefits of whole exome sequencing to advance the genetic diagnosis in patients with differences (disorders) of sex development
Hannes Syryn
Hannah Verdin
Julie Van De Velde
Marianne Becker
Cécile Brachet
Marieke Den Brinker
Sylvia Depoorter
Julie Fudvoye
Daniel Klink
Philippe Lysy
et al.
C3
Conferentie
2023
CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis
Nafisa Nuzhat
Kristof Van Schil
Sandra Liakopoulos
Miriam Bauwens
Alfredo Dueñas Rey
Stephan Kaeseberg
Melanie Jaeger
Jason R. Willer
Jennifer Winter
Hanh M. Truong
et al.
A1
Artikel in een tijdschrift
in
JOURNAL OF CLINICAL INVESTIGATION
2023
Comparative 3D genome analysis between neural retina and RPE reveals diferential cis-regulatory interactions at retinal disease loci
Eva D'haene
Victor Lopez Soriano
Pedro Manuel Martinez-Garcia
Soraya Kalayanamontri
Alfredo Dueñas Rey
Ana Sousa-Ortega
Silvia Naranjo
Stijn Van de Sompele
Lies Vantomme
Quinten Mahieu
et al.
C3
Conferentie
2023
Comparative 3D genome analysis between neural retina and RPE reveals differential cis-regulatory interactions at retinal disease loci
Eva D'haene
Pedro Manuel Martinez-Garcia
Victor Lopez Soriano
Soraya Kalayanamontri
Alfredo Dueñas Rey
Lies Vantomme
Sarah Vergult
Ana Bastos Neto
José Luis Gomez-Skarmeta
Juan Ramon Martinez-Morales
et al.
C3
Conferentie
2023
Comparative 3D genome analysis between neural retina and RPE reveals differential cis-regulatory interactions at retinal disease loci
Eva D'haene
Victor Lopez Soriano
Pedro Manuel Martínez-García
Soraya Kalayanamontri
Alfredo Dueñas Rey
Ana Sousa-Ortega
Silvia Naranjo
Stijn Van de Sompele
Lies Vantomme
Quinten Mahieu
et al.
Preprint
2023
Compendium of clinical variant classification for 2,246 unique ABCA4 variants to clarify variant pathogenicity in Stargardt disease using a modified ACMG/AMP framework
Stephanie Cornelis
Miriam Bauwens
Lonneke Haer-Wigman
Marieke De Bruyne
Madhulatha Pantrangi
Elfride De Baere
Robert B. Hufnagel
Claire-Marie Dhaenens
Frans P. M. Cremers
A1
Artikel in een tijdschrift
in
HUMAN MUTATION
2023
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
Daan M. Panneman
Rebekkah J. Hitti-Malin
Lara K. Holtes
Suzanne E. de Bruijn
Janine Reurink
Erica G. M. Boonen
Muhammad Imran Khan
Manir Ali
Sten Andréasson
Elfride De Baere
et al.
A1
Artikel in een tijdschrift
in
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
2023
Deciphering the genetic architecture of inherited retinal diseases in the Iranian population by integrated exome sequencing
Miriam Bauwens
Kristof Van Schil
Marieke De Bruyne
Mattias Van Heetvelde
Quinten Mahieu
Toon Rosseel
Ebrahim Al-Hajj
Sarah Van Malderen
Fatemeh Suri
Elfride De Baere
C3
Conferentie
2023
Differential 3D genome topology shapes the regulatory landscapes of IRD genes in human neural retina and retinal pigment epithelium
Eva D'haene
Pedro Martinez-Garcia
Victor Lopez Soriano
Miriam Bauwens
Lies Vantomme
Sarah Vergult
Juan Martinez-Morales
Juan Tena
Elfride De Baere
C3
Conferentie
2023
Dual molecular effects of constitutional SF3B2 variants cause a novel dominant spliceosomopathy displaying retinitis pigmentosa or developmental skeletal anomalies
Stijn Van de Sompele
Caroline Van Cauwenbergh
Marjolein Carron
Alfredo Dueñas Rey
Frauke Coppieters
Toon Rosseel
Hong Tran
Robrecht Cannoodt
Thalia Van Laethem
Brecht Guillemyn
et al.
C3
Conferentie
2023
Etiology, histology and long-term outcome of bilateral testicular regression : a large Belgian series
Lloyd Tack
Cecile Brachet
Veronique Beauloye
Claudine Heinrichs
E Boros
Kathleen De Waele
Saskia van der Straaten
Sara Van Aken
Annelies Lemay
Anne Rochtus
et al.
A1
Artikel in een tijdschrift
in
HUMAN REPRODUCTION OPEN
2023
HRAS-related epidermal nevus syndromes : expansion of the spectrum with first branchial arch defects
Aude Beyens
Charlotte Lietaer
Kathleen Claes
Elfride De Baere
Marleen Goeteyn
Bob Lerut
Hannes Syryn
Olivier Vanakker
Joni Van der Meulen
Lieve Vanwalleghem
et al.
A1
Artikel in een tijdschrift
in
CLINICAL GENETICS
2023
Identification and characterization of a novel retinaspecific lncRNA upstream ABCA4 with a potential role in ABCA4-associated inherited retinal disease
Alfredo Dueñas Rey
Victor Lopez Soriano
Zelia Corradi
Claire-Marie Dhaenens
Manon Bouckaert
Jasper Verwilt
Avril Watson
Majlinda Lako
Eva D'haene
Karla Alejandra Ruiz Ceja
et al.
C3
Conferentie
2023
Interaction map of cis-regulatory elements controlling ABCA4 in human retina
Soraya Kalayanamontri
Ana Neto
Pedro Manuel Martinez-Garcia
Victor Lopez Soriano
Jose Luis Gomez-Skarmeta
Elfride De Baere
Juan Ramon Martinez Morales Martinez-Morales
Juan Jesus Tena-Aguilar
C3
Conferentie
2023
Mapping the 3D genome of the human retina and its role in retinal disease
Eva D'haene
Victor Lopez Soriano
Lies Vantomme
Bernd Wissinger
Susanne Kohl
Sarah Vergult
Elfride De Baere
C3
Conferentie
2023
Modelling of rare diseases and developmental processes in Xenopus tropicalis : from retinal degeneration to epidermal structures
Marjolein Carron
Elfride De Baere
Kris Vleminckx
Kristof Van Schil
Proefschrift
2023
Multi-omics in human retina to decode cis-regulatory landscapes of inherited retinal disease genes
Victor Lopez Soriano
Elfride De Baere
Miriam Bauwens
Eva D'haene
Proefschrift
2023
Multi-omics profiling, in vitro and in vivo approaches to interpret non-coding variation in inherited retinal diseases
Elfride De Baere
C3
Conferentie
2023
New noncoding base pair mutation at the identical locus as the original NCMD/MCDR1 in a Mexican family, suggesting a mutational hotspot
Kent W. Small
Stijn Van de Sompele
Jessica Avetisjan
Nitin Udar
Steven Agemy
Elfride De Baere
Fadi S. Shaya
A2
Artikel in een tijdschrift
in
JOURNAL OF VITREORETINAL DISEASES
2023
Optic nerve involvement in CACNA1F-related disease : observations from a multicentric case series
Elisa Marziali
Filip Van Den Broeck
Sara Bargiacchi
Pina Fortunato
Roberto Caputo
Andrea Sodi
Julie De Zaeytijd
Vittoria Murro
Dario Pasquale Mucciolo
Dario Giorgio
et al.
A1
Artikel in een tijdschrift
in
OPHTHALMIC GENETICS
2023
Paediatric cataract surgery with 27G vitrectomy instrumentation : the Ghent University Hospital experience
Hwei Wuen Chan
Filip Van Den Broeck
Axelle Cools
SOPHIE WALRAEDT
Inge Joniau
Hannah Verdin
Irina Balikova
Stefaan Van Nuffel
Patricia Delbeke
Elfride De Baere
et al.
A1
Artikel in een tijdschrift
in
FRONTIERS IN MEDICINE
2023
RXFP2 : validating its role in autosomal recessive bilateral cryptorchidism and a novel association with male infertility
Hannes Syryn
Hannah Verdin
Julie Van De Velde
Frank Peelman
Marianne Becker
Cecile Brachet
Marieke den Brinker
Sylvia Depoorter
Julie Fudvoye
Daniel Klink
et al.
C3
Conferentie
2023
Results of Belgian patients with RPE65-related inherited retinal dystrophy 6 months after treatment with voretigene neparvovec
Leen Hertens
Caroline Van Cauwenbergh
Filip Van Den Broeck
Julie Sambaer
Manon Van Haute
Pieter Hertens
Elfride De Baere
Geraldine Accou
Fanny Nerinckx
Bart Leroy
C3
Conferentie
2023
Single domain antibodies to study orphan receptors and tackle their mutant counterpart with dominant-negative effect
Edith De Bruycker
Olivier Zwaenepoel
Frauke Coppieters
Elfride De Baere
Jan Gettemans
C3
Conferentie
2023
Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development : a cross-sectional study
Martine Cools
Celien Grijp
Jana Neirinck
Simon Tavernier
Petra Schelstraete
Julie Van De Velde
Lieve Morbée
Elfride De Baere
Carolien Bonroy
Yolande van Bever
et al.
A1
Artikel in een tijdschrift
in
EUROPEAN JOURNAL OF ENDOCRINOLOGY
2023
Structural variants disrupt a critical regulatory region downstream of FOXG1
Lisa Hamerlinck
Eva D'haene
Michael B Vaughan
Maria del Rocio Pérez Baca
Nore Van Loon
Lies Vantomme
Björn Menten
Bert Callewaert
Elfride De Baere
Sarah Vergult
C3
Conferentie
2023
Structural variants disrupt a critical regulatory region downstream of FOXG1
Lisa Hamerlinck
Eva D'haene
Sarah Vergult
Nore Van Loon
Maria del Rocio Pérez Baca
Lies Vantomme
Michael B Vaughan
Elfride De Baere
Bert Callewaert
Björn Menten
C3
Conferentie
2023
Structural variants disrupt a critical regulatory region downstream of FOXG1
Eva D'haene
Lies Vantomme
Björn Menten
Bert Callewaert
Elfride De Baere
Sarah Vergult
C3
Conferentie
2023
Structural variants disrupt a critical regulatory region downstream of FOXG1
Lisa Hamerlinck
Eva D'haene
Maria del Rocio Pérez Baca
Lies Vantomme
Nore Van Loon
Björn Menten
Bert Callewaert
Elfride De Baere
Sarah Vergult
C3
Conferentie
2023
Targeted sequencing using single-molecule Molecular Inversion Probes reveals severe bi-allelic ABCA4 alleles in probands diagnosed with Leber congenital amaurosis
Daan Panneman
Susanne Roosing
Erica Boonen
Chris Inglehearn
Martin McKibbin
Elfride De Baere
Thomy de Ravel
Sascha Vermeer
Andrea Vincent
Robert Koenekoop
et al.
C3
Conferentie
2023
The evolving role of medical geneticists in the era of gene therapy : an urgency to prepare
Jerry Vockley
Nicola Brunetti-Pierri
Wendy K. Chung
Angus J. Clarke
Nina Gold
Robert C. Green
Stephen Kagan
Tara Moroz
Christian P. Schaaf
Martin Schulz
et al.
Redactioneel materiaal
2023
The role of MCM9 in the etiology of Sertoli cell-only syndrome and premature ovarian insufficiency
Iulia Potorac
Marie Laterre
Olivier Malaise
Vlad Nechifor
Corinne Fasquelle
Orphal Colleye
Nancy Detrembleur
Hannah Verdin
Sofie Symoens
Elfride De Baere
et al.
A1
Artikel in een tijdschrift
in
JOURNAL OF CLINICAL MEDICINE
2023
Toward reporting standards for the pathogenicity of variant combinations involved in multilocus/oligogenic diseases
Sofia Papadimitriou
Barbara Gravel
Charlotte Nachtegael
Elfride De Baere
Bart Loeys
Miikka Vikkula
Guillaume Smits
Tom Lenaerts
A2
Artikel in een tijdschrift
in
HUMAN GENETICS AND GENOMICS ADVANCES
2023
Unraveling the genetic basis of early-onset inherited retinal disease in a Saudi Arabian cohort reveals a novel RIMS2-related family
Basamat Almoallem Mohammed
Marta del Pozo Valero
Laila Jeddawi
Kristof Van Schil
Toon Rosseel
Sarah De Jaegere
Bart Leroy
Khalid Emara
Frauke Coppieters
Miriam Bauwens
et al.
C3
Conferentie
2023
Whole genome sequencing delineates novel non-coding variants and candidate genes in inherited retinal diseases
Marta del Pozo Valero
Miriam Bauwens
Marieke De Bruyne
Filip Van Den Broeck
Stephanie Dulst
Quinten Quinten
Audrey Meunier
Thomy de Ravel
Joke Ruys
Mattias Van Heetvelde
et al.
C3
Conferentie
2023
Whole genome sequencing sheds light on the dark matter of the genome in patients with inherited retinal diseases
Miriam Bauwens
Marta del Pozo Valero
Marieke De Bruyne
Filip Van Den Broeck
Stephanie Dulst
Quinten Mahieu
Audrey Meunier
Thomy de Ravel de l'Argentière
Joke Ruys
Mattias Van Heetvelde
et al.
C3
Conferentie
2023
2022
An in vitro enzymatic assay to elucidate the VUS problem in RPE65, a target for retinal gene therapy
Eline Van Vooren
Suzanne Kohl
Bart Leroy
Miriam Bauwens
Elfride De Baere
C3
Conferentie
2022
Blepharophimosis, ptosis, and epicanthus inversus syndrome
Hannah Verdin
Charlotte Matton
Elfride De Baere
Hoofdstuk in een boek
2022
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia
Maria Solaki
Britta Baumann
Peggy Reuter
Sten Andreasson
Isabelle Audo
Carmen Ayuso
Ghassan Balousha
Francesco Benedicenti
David Birch
Pierre Bitoun
et al.
A1
Artikel in een tijdschrift
in
HUMAN MUTATION
2022
Endocrine outcome and seminal parameters in young adult men born with hypospadias : a cross-sectional cohort study
Lloyd Tack
Anne-Françoise Spinoit
Piet Hoebeke
Stefan Riedl
Alexander Springer
Ursula Tonnhofer
Manuela Hiess
Julia Weninger
Ahmed Mahmoud
Kelly Tilleman
et al.
A1
Artikel in een tijdschrift
in
EBIOMEDICINE
2022
Expanding the coding and non-coding genomic landscape of genetic eye diseases
Stijn Van de Sompele
Elfride De Baere
Frauke Coppieters
Kris Vleminckx
Proefschrift
2022
GTF3A mutations predispose to herpes simplex encephalitis by disrupting biogenesis of the host-derived RIG-I ligand RNA5SP141
Leslie Naesens
Santoshi Muppala
Dhiraj Acharya
Josephine Nemegeer
Delfien Bogaert
Jung-Hyun Lee
Katrien Staes
Veronique Debacker
Pieter De Bleser
Marieke De Bruyne
et al.
A1
Artikel in een tijdschrift
in
SCIENCE IMMUNOLOGY
2022
High myopia and vitreal veils in a patient with Poretti- Boltshauser syndrome due to a novel homozygous LAMA1 mutation
Nawid Faizi
Ingele Casteels
Bruno Termote
Paul Coucke
Elfride De Baere
Marieke De Bruyne
Irina Balikova
A1
Artikel in een tijdschrift
in
OPHTHALMIC GENETICS
2022
Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophyand hearing loss
Giulia Ascari
Nanna D. Rendtorff
Marieke De Bruyne
Julie De Zaeytijd
Michel Van Lint
Mattias Van Heetvelde
Gavin Arno
Julie Jacob
David Creytens
Jo Van Dorpe
et al.
C3
Conferentie
2022
Long-term deep phenotyping in inherited ocular disease novel genotype-phenotype correlations
Julie De Zaeytijd
Bart Leroy
Elfride De Baere
Frauke Coppieters
Proefschrift
2022
Mapping the 3D genome of the human retina and its role in retinal disease
Eva D'haene
Victor Lopez Soriano
Lies Vantomme
Bernd Wissinger
Susanne Kohl
Sarah Vergult
Elfride De Baere
C3
Conferentie
2022
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
Stijn Van de Sompele
Kent W. Small
Münevver Burcu Cicekdal
Victor Lopez Soriano
Eva D'haene
Fadi S. Shaya
Steven Agemy
Thijs Van der Snickt
Alfredo Dueñas Rey
Toon Rosseel
et al.
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
2022
Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
Stijn Van de Sompele
Kent W. Small
Münevver Burcu Cicekdal
Victor Lopez Soriano
Eva D'haene
Fadi S. Shaya
Steven Agemy
Thijs Van der Snickt
Alfredo Dueñas Rey
Toon Rosseel
et al.
Preprint
2022
Mutations in RNU7-1 weaken secondary RNA structure, induce MCP-1 and CXCL10 in CSF, and result in Aicardi-Goutières syndrome with severe end-organ involvement
Leslie Naesens
Josephine Nemegeer
Filip Roelens
Lore Vallaeys
Marije Meuwissen
Katrien Janssens
PATRICK VERLOO
Benson Ogunjimi
Dimitri Hemelsoet
Levi Hoste
et al.
A1
Artikel in een tijdschrift
in
JOURNAL OF CLINICAL IMMUNOLOGY
2022
Novel OPN1LW/OPN1MW exon 3 haplotype-associated splicing defect in patients with X-linked cone dysfunction
Katarina Stingl
Britta Baumann
Pietro De Angeli
Ajoy Vincent
Elise Heon
Monique Cordonnier
Elfride De Baere
Salmo Raskin
Mario Teruo Sato
Naoye Shiokawa
et al.
A1
Artikel in een tijdschrift
in
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
2022
Personalized genetic counseling for Stargardt disease : offspring risk estimates based on variant severity
Stephanie Cornelis
Esmee H. Runhart
Miriam Bauwens
Zelia Corradi
Elfride De Baere
Susanne Roosing
Lonneke Haer-Wigman
Claire-Marie Dhaenens
Anneke T. Vulto-van Silfhout
Frans P.M. Cremers
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
2022
Recommendations for whole genome sequencing in diagnostics for rare diseases
Erika Souche
Sergi Beltran
Erwin Brosens
John W. Belmont
Magdalena Fossum
Olaf Riess
Christian Gilissen
Amin Ardeshirdavani
Gunnar Houge
Marielle van Gijn
et al.
A1
Artikel in een tijdschrift
in
EUROPEAN JOURNAL OF HUMAN GENETICS
2022
The genetic diagnosis of rare endocrine disorders of sex development and maturation : a survey among Endo-ERN centres
Luca Persani
Martine Cools
Stamatina Ioakim
S. Faisal Ahmed
Silvia Andonova
Magdalena Avbelj-Stefanija
Federico Baronio
Jerome Bouligand
Hennie T. Bruggenwirth
Justin H. Davies
et al.
A1
Artikel in een tijdschrift
in
ENDOCRINE CONNECTIONS
2022
The natural history of leber congenital amaurosis and cone–rod dystrophy associated with variants in the GUCY2D gene
Leo C. Hahn
Michalis Georgiou
Hind Almushattat
Mary J. van Schooneveld
Emanuel R. de Carvalho
Nieneke L. Wesseling
Jacoline B. ten Brink
Ralph J. Florijn
Birgit I. Lissenberg-Witte
Ine Strubbe
et al.
A2
Artikel in een tijdschrift
in
OPHTHALMOLOGY RETINA
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
et al.
A1
Artikel in een tijdschrift
in
OPHTHALMOLOGY
2022
2021
A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1)
Kent W. Small
Stijn Van de Sompele
Karen Nuytemans
Andrea Vincent
Ozge Ozalp Yuregir
Emine Ciloglu
Cahfer Sariyildiz
Toon Rosseel
Jessica Avetisjan
Nitin Udar
et al.
A1
Artikel in een tijdschrift
in
MOLECULAR VISION
2021
A novel non-coding variant in DCLRE1C results in deregulated splicing and induces SCID through the generation of a truncated ARTEMIS protein that fails to support V(D)J recombination and DNA damage repair
Steven Strubbe
Marieke De Bruyne
Ulrich Pannicke
Elien Beyls
Bart Vandekerckhove
Georges Leclercq
Elfride De Baere
Victoria Bordon
Anne Vral
Klaus Schwarz
et al.
A1
Artikel in een tijdschrift
in
FRONTIERS IN IMMUNOLOGY
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
Adult-onset congenital central hypoventilation syndrome due to PHOX2B mutation
Antoon Meylemans
Pieter Depuydt
Elfride De Baere
Katrien Hertegonne
Eric Derom
Bart Dermaut
Dimitri Hemelsoet
A1
Artikel in een tijdschrift
in
ACTA NEUROLOGICA BELGICA
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
Clinical characteristics and natural history of rho-associated retinitis pigmentosa : a long-term follow-up study
Xuan-Thanh-An Nguyen
Mays Talib
Caroline Van Cauwenbergh
Mary J. van Schooneveld
Marta Fiocco
Jan Wijnholds
Jacoline B. ten Brink
Ralph J. Florijn
Nicoline E. Schalij-Delfos
Gislin Dagnelie
et al.
A1
Artikel in een tijdschrift
in
RETINA -THE JOURNAL OF RETINAL AND VITREOUS DISEASES
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
et al.
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
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
Irene Perea-Romero
Gema Gordo
Ionut F. Iancu
Marta Del Pozo-Valero
Berta Almoguera
Fiona Blanco-Kelly
Ester Carreno
Belen Jimenez-Rolando
Rosario Lopez-Rodriguez
Isabel Lorda-Sanchez
et al.
A1
Artikel in een tijdschrift
in
SCIENTIFIC REPORTS
2021
Individuals with NR5A1 (SF1) mutations and atypical sex development and their asymptomatic family member carriers are at high risk of hyposplenism
Celien Grijp
Simon Tavernier
Jana Neirinck
Maha Abdullhadi-Atwan
Julie Van De Velde
Dorien Baetens
Hannah Verdin
Lieve Morbée
Elfride De Baere
David Zangen
et al.
C3
Conferentie
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
Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss
Giulia Ascari
Nanna Rendtorff
Marieke De Bruyne
Julie De Zaeytijd
Michel Van Lint
Mattias Van Heetvelde
Alfredo Dueñas Rey
Gavin Arno
Julie Jacob
David Creytens
et al.
C3
Conferentie
2021
Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss
Giulia Ascari
Nanna D. Rendtorff
Marieke De Bruyne
Julie De Zaeytijd
Michel Van Lint
Miriam Bauwens
Mattias Van Heetvelde
Gavin Arno
Julie Jacob
David Creytens
et al.
A1
Artikel in een tijdschrift
in
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
2021
Long-read sequencing to unravel complex structural variants of CEP78 leading to cone‐rod dystrophy and hearing loss
Giulia Ascari
Nanna D Rendtorff
Marieke De Bruyne
Julie De Zaeytijd
Michel Van Lint
Mattias Van Heetvelde
Alfredo Dueñas Rey
Gavin Arno
Julie Jacob
David Creytens
et al.
C3
Conferentie
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
et al.
A1
Artikel in een tijdschrift
in
HUMAN MUTATION
2021
Novel mutations in RNU7-1 weaken secondary RNA structure, induce MCP-1 and CXCL10 in CSF and result in Aicardi-Goutières syndrome with severe end-organ involvement
Leslie Naesens
Josephine Nemegeer
Filip Roelens
Lore Vallaeys
Marije Meuwissen
Katrien Janssens
PATRICK VERLOO
Benson Ogunjimi
Dimitri Hemelsoet
Program for Undiagnosed Rare Diseases (UD-PrOZA)
et al.
C3
Conferentie
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
Structural variants disrupt a critical regulatory region downstream of FOXG1
Eva D'haene
Lies Vantomme
Björn Menten
Bert Callewaert
Elfride De Baere
Sarah Vergult
C3
Conferentie
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
et al.
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
et al.
A1
Artikel in een tijdschrift
in
GENES
2021
2020
CIL-EYE : functional characterization of potential ciliary genes involved in syndromic inherited retinal diseases
Giulia Ascari
Elfride De Baere
Frauke Coppieters
Kris Vleminckx
Proefschrift
2020
Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer
Kezhi Yan
Justine Rousseau
Keren Machol
Laura A. Cross
Katherine E. Agre
Cynthia Forster Gibson
Anne Goverde
Kendra L. Engleman
Hannah Verdin
Elfride De Baere
et al.
A1
Artikel in een tijdschrift
in
SCIENCE ADVANCES
2020
Disclosing incidental and secondary findings in clinical genomics : professional practice, patient experience and ethical reflection
Marlies Saelaert
Ignaas Devisch
Heidi Mertes
Elfride De Baere
Proefschrift
2020
Ethical values supporting the disclosure of incidental and secondary findings in clinical genomic testing : a qualitative study
Marlies Saelaert
Heidi Mertes
Tania Moerenhout
Elfride De Baere
Ignaas Devisch
A1
Artikel in een tijdschrift
in
BMC MEDICAL ETHICS
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
et al.
C3
Conferentie
2020
Expect the unexpected : clinical case
Delfien Bogaert
Marieke De Bruyne
Frederic Rieux-Laucate
Elfride De Baere
Filomeen Haerynck
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
et al.
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
et al.
A1
Artikel in een tijdschrift
in
HUMAN MUTATION
2020
GATA2 deficiency and haematopoietic stem cell transplantation : challenges for the clinical practitioner
Delfien Bogaert
Genevieve Laureys
Leslie Naesens
Dominiek Mazure
Marieke De Bruyne
Amy P. Hsu
Maria Bordon Cueto De Braem
Erik Wouters
Simon Tavernier
Bart Lambrecht
et al.
A1
Artikel in een tijdschrift
in
BRITISH JOURNAL OF HAEMATOLOGY
2020
Loss of function of RIMS2 causes a syndromic congenital cone-rod synaptic disease with neurodevelopmental and pancreatic involvement
Sabrina Mechaussier
Basamat Almoallem Mohammed
Christina Zeitz
Kristof Van Schil
Laila Jeddawi
Jo Van Dorpe
Alfredo Dueñas Rey
Christel Condroyer
Olivier Pelle
Michel Polak
et al.
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
2020
Mapping the cis-regulatory architecture of the human retina reveals noncoding genetic variation in disease
Timothy J. Cherry
Marty G. Yang
David A. Harmin
Peter Tao
Andrew E. Timms
Miriam Bauwens
Rando Allikmets
Evan M. Jones
Rui Chen
Elfride De Baere
et al.
A1
Artikel in een tijdschrift
in
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
2020
Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism
Elise Pozza
Hannah Verdin
Hilde Deconinck
Annelies Dheedene
Björn Menten
Elfride De Baere
Irina Balikova
A1
Artikel in een tijdschrift
in
EUROPEAN JOURNAL OF MEDICAL GENETICS
2020
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
Mubeen Khan
Stephanie S. Cornelis
Marta Del Pozo-Valero
Laura Whelan
Esmee H. Runhart
Ketan Mishra
Femke Bults
Yahya AlSwaiti
Alaa AlTalbishi
Elfride De Baere
et al.
A1
Artikel in een tijdschrift
in
GENETICS IN MEDICINE
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
et al.
A1
Artikel in een tijdschrift
in
SCIENTIFIC REPORTS
2020
Three cases of molecularly confirmed Knobloch syndrome
Irina Balikova
Nuri Serdal Sanak
Depasse Fanny
Guillaume Smits
Julie Soblet
Elfride De Baere
Monique Cordonnier
A1
Artikel in een tijdschrift
in
OPHTHALMIC GENETICS
2020
Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development
Yolande van Bever
Hennie T Brüggenwirth
Katja P Wolffenbuttel
Arianne B Dessens
Irene A L Groenenberg
Maarten F C M Knapen
Elfride De Baere
Martine Cools
Conny M A van Ravenswaaij-Arts
Birgit Sikkema-Raddatz
et al.
A1
Artikel in een tijdschrift
in
JOURNAL OF MEDICAL GENETICS
2020
Unraveling complex structural variants of CEP78 leading to cone rod dystrophy and hearing loss using long read sequencing
Giulia Ascari
Nanna D. Rendtorff
Julie De Zaeytijd
Valerie Baumont
Marieke De Bruyne
Mattias Van Heetvelde
Toon Rosseel
Tim De Pooter
Peter De Rijk
Wouter De Coster
et al.
C3
Conferentie
2020
Unraveling complex structural variants of CEP78 leading to cone rod dystrophy and hearing loss using long read sequencing
Giulia Ascari
Nanna D. Rendtorff
Julie De Zaeytijd
Valerie Baumont
Marieke De Bruyne
Mattias Van Heetvelde
Toon Rosseel
Tim De Pooter
Peter De Rijk
Wouter De Coster
et al.
C3
Conferentie
2020
Unraveling complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss using long-read sequencing
Giulia Ascari
Nanna D. Rendtorff
Julie Jacob
Julie De Zaeytijd
Valerie Baumont
Marieke De Bruyne
Toon Rosseel
Mattias Van Heetvelde
Tim De Pooter
Wouter De Coster
et al.
C3
Conferentie
2020
Whole genome sequencing and 4C techniques provide novel insights into the genetic architecture and mechanisms underlying North Carolina macular dystrophy, a cis-regulatory disease
Stijn Van de Sompele
Thijs Van der Snickt
Eva D'haene
Sarah Vergult
Petra Liskova
Carlo Rivolta
Jenneke van den Ende
Arthur Bergen
Irina Balikova
Julie De Zaeytijd
et al.
C3
Conferentie
2020
Whole genome sequencing and 4C techniques provide novel insights into the genetic architecture and mechanisms underlying North Carolina macular dystrophy, a cis-regulatory disease
Stijn Van de Sompele
Thijs Van der Snickt
Eva D'haene
Sarah Vergult
Petra Liskova
Carlo Rivolta
Jenneke Van den Ende
Arthur A. Bergen
Irina Balikova
Julie De Zaeytijd
et al.
C3
Conferentie
2020
Whole genome sequencing and 4C techniques provide novel insights into the genetic architecture and mechanisms underlying North Carolina macular dystrophy, a cis-regulatory disease
Stijn Van de Sompele
Thijs Van der Snickt
Eva D'haene
Sarah Vergult
Petra Liskova
Carlo Rivolta
Jenneke van den Ende
Arthur A. Bergen
Irina Balikova
Julie De Zaeytijd
et al.
C3
Conferentie
2020
2019
'Every sweet has its sour' : rare skin lesions in a boy with combined immunodeficiency
Delfien Bogaert
Margo Hagendorens
Marieke De Bruyne
Hilde Lapeere
Annick Covents
Elfride De Baere
Frans De Baets
Filomeen Haerynck
C3
Conferentie
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
et al.
A1
Artikel in een tijdschrift
in
GENETICS IN 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
Antisense oligonucleotide-based downregulation of the G56R pathogenic variant causing NR2E3-associated autosomal dominant retinitis pigmentosa
Sarah Naessens
Laurien Ruysschaert
Steve Lefever
Frauke Coppieters
Elfride De Baere
A1
Artikel in een tijdschrift
in
GENES
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
et al.
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
Congenital myeloperoxidase deficiency caused by a homozygous MPO splice site mutation in a patient with recurrent candida otomastoiditis
Frederic Acke
Delfien Bogaert
Helen Van Hoecke
Katrien Bonte
Carolien Bonroy
Petra Schelstraete
Marieke De Bruyne
Elfride De Baere
Ingeborg Dhooge
Filomeen Haerynck
C3
Conferentie
2019
Criteria for reporting incidental findings in clinical exome sequencing : a focus group study on professional practices and perspectives in Belgian genetic centres
Marlies Saelaert
Heidi Mertes
Tania Moerenhout
Elfride De Baere
Ignaas Devisch
A1
Artikel in een tijdschrift
in
BMC MEDICAL GENOMICS
2019
Criteria for reporting incidental findings in clinical whole exome sequencing : professional practice and perspective in Belgian genetic centres
Marlies Saelaert
Heidi Mertes
Elfride De Baere
Ignaas Devisch
C3
Conferentie
2019
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
Riccardo Sangermano
Alejandro Garanto
Mubeen Khan
Esmee H Runhart
Miriam Bauwens
Nathalie M Bax
L Ingeborgh van den Born
Muhammad Imran Khan
Stéphanie S Cornelis
Joke BGM Verheij
et al.
A1
Artikel in een tijdschrift
in
GENETICS IN MEDICINE
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
Expanded phenotypic spectrum of retinopathies associated with autosomal recessive and dominant mutations in PROM1
Marta Del Pozo-Valero
Inmaculada Martin-Merida
Belen Jimenez-Rolando
Ana Arteche
Almudena Avila-Fernandez
Fiona Blanco-Kelly
Rosa Riveiro-Alvarez
Caroline Van Cauwenbergh
Elfride De Baere
Carlo Rivolta
et al.
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF OPHTHALMOLOGY
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
Pietro Farinelli
Toon Rosseel
Nina Lambrechts
Irina Balikova
Lara Derycke
Gabriële Holtappels
Olga Krysko
Thalia Van Laethem
et al.
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
et al.
C3
Conferentie
2019
Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases
Marialbert Acosta-Herrera
Martin Kerick
David González-Serna
Cisca Wijmenga
Andre Franke
Peter K Gregersen
Leonid Padyukov
Jane Worthington
Timothy James Vyse
Marta Eugenia Alarcón-Riquelme
et al.
A1
Artikel in een tijdschrift
in
ANNALS OF THE RHEUMATIC DISEASES
2019
Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus
Anja K. Mayer
Muhammad Mahajnah
Mervyn G. Thomas
Yuval Cohen
Adib Habib
Martin Schulze
Gail D. E. Maconachie
Basamat Almoallem Mohammed
Elfride De Baere
Birgit Lorenz
et al.
A1
Artikel in een tijdschrift
in
BRAIN
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
et al.
A1
Artikel in een tijdschrift
in
TRANSLATIONAL VISION SCIENCE & TECHNOLOGY
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
Conferentie
2019
Rare skin lesions in a boy with activated phosphoinositide 3-kinase delta syndrome
Delfien Bogaert
Marieke De Bruyne
Margo Hagendorens
Hilde Lapeere
Annick Covents
Elfride De Baere
Frans De Baets
Filomeen Haerynck
C3
Conferentie
2019
Recurrent coding and rare non-coding targets for treatment in inherited retinal diseases
Sarah Naessens
Elfride De Baere
Frauke Coppieters
Proefschrift
2019
Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics
Mubeen Khan
Stéphanie S. Cornelis
Marta del Pozo-Valero
Laura Whelan
Esmee H. Runhart
Ketan Mishra
Femke Bults
Yahya AlSwaiti
Alaa AlTabishi
Elfride De Baere
et al.
Preprint
2019
Update on the genetics of differences of sex development (DSD)
Dorien Baetens
Hannah Verdin
Elfride De Baere
Martine Cools
A1
Artikel in een tijdschrift
in
BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
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
et al.
A1
Artikel in een tijdschrift
in
HUMAN MUTATION
2019
2018
A CARD9 founder mutation disrupts NF-κB signaling by inhibiting BCL10 and MALT1 recruitment and signalosome formation
Marieke De Bruyne
Levi Hoste
Delfien Bogaert
Lien Van den Bossche
Simon Tavernier
Eef Parthoens
Mélanie Migaud
Deborah Konopnicki
Jean Cyr Yombi
Bart Lambrecht
et al.
A1
Artikel in een tijdschrift
in
FRONTIERS IN IMMUNOLOGY
2018
A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects
Delfien Bogaert
Hye Sun Kuehn
Carolien Bonroy
Katherine R Calvo
Jo Dehoorne
Arnaud Vanlander
Marieke De Bruyne
Urszula Cytlak
Venetia Bigley
Frans De Baets
et al.
A1
Artikel in een tijdschrift
in
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
2018
A variety of Alu-mediated copy number variations can underlie IL-12Rβ1 deficiency
Jérémie Rosain
Carmen Oleaga-Quintas
Caroline Deswarte
Hannah Verdin
Stéphane Marot
Garyfallia Syridou
Mahboubeh Mansouri
S Alireza Mahdaviani
Edna Venegas-Montoya
Maria Tsolia
et al.
A1
Artikel in een tijdschrift
in
JOURNAL OF CLINICAL IMMUNOLOGY
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 and monoallelic ESR2 variants associated with 46,XY disorders of sex development
Dorien Baetens
Tülay Güran
Berenice B Mendonca
Nathalia L Gomes
Lode De Cauwer
Frank Peelman
Hannah Verdin
Marnik Vuylsteke
Malaïka Van der Linden
Hans Stoop
et al.
A1
Artikel in een tijdschrift
in
GENETICS IN MEDICINE
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
et al.
C3
Conferentie
2018
CRISPR/Cas9 mediated knockout of rcbtb1 in Xenopus tropicalis to model RCBTB1-associated retinal disease
Giulia Ascari
Thomas Naert
Tom Van Nieuwenhuysen
Marjolein Carron
Suzan Demuynck
Chris Guerin
Frauke Coppieters
Kris Vleminckx
Elfride De Baere
C3
Conferentie
2018
CRISPR/Cas9 mediated knockout of rcbtb1 in Xenopus tropicalis to model RCBTB1-associated retinal disease
Giulia Ascari
Thomas Naert
Tom Van Nieuwenhuysen
Suzan Demuynck
Chris Guerin
Frauke Coppieters
Kris Vleminckx
Elfride De Baere
C3
Conferentie
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
Incidental or secondary findings : a dual bottom-up approach to the terminological debate
Marlies Saelaert
Heidi Mertes
Elfride De Baere
Ignaas Devisch
C3
Conferentie
2018
Incidental or secondary findings : a patient perspective on additional genetic results
Marlies Saelaert
Heidi Mertes
Elfride De Baere
Ignaas Devisch
C3
Conferentie
2018
Incidental or secondary findings : an integrative and patient-inclusive approach to the current debate
Marlies Saelaert
Heidi Mertes
Elfride De Baere
Ignaas Devisch
A1
Artikel in een tijdschrift
in
EUROPEAN JOURNAL OF HUMAN GENETICS
2018
Incidental or secondary findings in genetics : stairways to a life of certainty?
Marlies Saelaert
Heidi Mertes
Elfride De Baere
Ignaas Devisch
C3
Conferentie
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
et al.
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
et al.
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
Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia
Nicole Weisschuh
Katarina Stingl
Isabelle Audo
Saskia Biskup
Beatrice Bocquet
Kari Branham
Marie S. Burstedt
Elfride De Baere
Meindert J. De Vries
Irina Golovleva
et al.
A1
Artikel in een tijdschrift
in
HUMAN MUTATION
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
et al.
A1
Artikel in een tijdschrift
in
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
2018
2017
A CARD9 Turkisch founder mutation disrupts NF-κB signaling by inhibiting Bcl10 recruitment
Marieke De Bruyne
Levi Hoste
Delfien Bogaert
Mélanie Migaud
Deborah Konopnicki
Bart Lambrecht
Rudi Beyaert
Elfride De Baere
Anne Puel
Jean-Christophe Goffard
et al.
C3
Conferentie
2017
A CARD9 founder mutation p.Arg70Trp in Belgian and French patients of Turkish origin with a spectrum of chronic mucocutaneous and invasive fungal infections
Marieke De Bruyne
Delfien Bogaert
Levi Hoste
Mélanie Migaud
Jean-Christophe Goffard
Anne Puel
Elfride De Baere
Filomeen Haerynck
Melissa Dullaers
C3
Conferentie
2017
A next-generation sequencing approach targeting the highly repetitive ORF15 region of RPGR improves molecular diagnostics of X-linked retinitis pigmentosa
Annelies De Jaegher
Sarah De Jaegere
Toon Rosseel
Steve Lefever
Frauke Coppieters
Kim De Leeneer
Elfride De Baere
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
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
CARD9 p.R70W, a Turkish founder mutation associated with mucosal and invasive fungal infections, disrupts downstream NF-κB signaling by inhibiting Bcl10 recruitment
Marieke De Bruyne
Delfien Bogaert
Levi Hoste
Mélanie Migaud
Jean-Christophe Goffard
Deborah Konopnicki
Bart Lambrecht
Rudi Beyaert
Elfride De Baere
Anne Puel
et al.
C3
Conferentie
2017
CARD9 p.R70W, a Turkish founder mutation associated with mucosal and invasive fungal infections, disrupts downstream NF-κB signaling by inhibiting Bcl10 recruitment
Marieke De Bruyne
Delfien Bogaert
Levi Hoste
Mélanie Migaud
Jean-Christophe Goffard
Deborah Konopnicki
Bart Lambrecht
Rudi Beyaert
Elfride De Baere
Anne Puel
et al.
C3
Conferentie
2017
CARD9 p.R70W, a Turkish founder mutation associated with mucosal and invasive fungal infections, disrupts downstream NF-κB signaling by inhibiting Bcl10 recruitment
Marieke De Bruyne
Levi Hoste
Delfien Bogaert
Mélanie Migaud
Jean-Christophe Goffard
Deborah Konopnicki
Bart Lambrecht
Rudi Beyaert
Elfride De Baere
Anne Puel
et al.
C3
Conferentie
2017
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients
Anja K Mayer
Caroline Van Cauwenbergh
Christine Rother
Britta Baumann
Peggy Reuter
Elfride De Baere
Bernd Wissinger
Susanne Kohl
A1
Artikel in een tijdschrift
in
HUMAN MUTATION
2017
Diagnostiek bij disorders/differences of sex development (DSD)
Yolande van Bever
Hennie Bruggenwirth
Arianne Dessens
Sabine Hannema
Katja Wolffenbuttel
Elfride De Baere
Martine Cools
Maaike Haadsma
Conny van Ravenswaaij-Arts
Birgit Sikkema-Radatz
et al.
Verslag
2017
Disruption of a remote putative novel enhancer in the cis-regulatory domain of FOXL2 in a multigenerational Polynesian family with BPES
Hannah Verdin
Andrew Shelling
David Markie
Andrea Vincent
Elfride De Baere
C3
Conferentie
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
et al.
A1
Artikel in een tijdschrift
in
SCIENTIFIC REPORTS
2017
Functional characterization of a novel non-coding mutation 'Ghent +49A>G' in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome
Stijn Van de Sompele
Lucie Pécheux
Jorge Couso
Audrey Meunier
Mayka Sanchez
Elfride De Baere
A1
Artikel in een tijdschrift
in
SCIENTIFIC REPORTS
2017
Genetic defects of female sexual differentiation
Martine Cools
Hedi L Claahsen- Van der Grinten
Elfride De Baere
Nina Callens
Arianne Dessens
Hoofdstuk in een boek
in
Hormones, brain and behavior
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
Incidental findings : inherent part of patients’ identity or unwillingly imposed digitalization?
Marlies Saelaert
Heidi Mertes
Elfride De Baere
Ignaas Devisch
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
et al.
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
et al.
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
et al.
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
et al.
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
et al.
C3
Conferentie
2017
Molecular diagnosis of Common Variable Immunodeficiency and related antibody disorders : an integrated immunological and genetic approach
Delfien Bogaert
Elfride De Baere
Filomeen Haerynck
Melissa Dullaers
Proefschrift
2017
Molecular genetics of common variable immunodeficiency
Delfien Bogaert
Melissa Dullaers
Elfride De Baere
Filomeen Haerynck
Hoofdstuk in een boek
in
eLS
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
et al.
A1
Artikel in een tijdschrift
in
PLOS ONE
2017
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development
Dorien Baetens
Hans Stoop
Frank Peelman
Anne-Laure Todeschini
Toon Rosseel
Frauke Coppieters
Reiner Veitia
Leendert Looijenga
Elfride De Baere
Martine Cools
A1
Artikel in een tijdschrift
in
GENETICS IN MEDICINE
2017
NXT-EYE : integrative strategy to elucidate hidden genetic variation in inherited retinal diseases
Kristof Van Schil
Elfride De Baere
Bart Leroy
Proefschrift
2017
Non-coding variation in disorders of sex development
Dorien Baetens
Berenice Bilharinho de Mendonça
Hannah Verdin
Martine Cools
Elfride De Baere
A1
Artikel in een tijdschrift
in
CLINICAL GENETICS
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
Novel non-coding homozygous mutation 'Ghent +49A>G' in the iron-responsive element of L-ferritin causes hereditary hyperferritinaemia-cataract syndrome
Stijn Van de Sompele
Audrey Meunier
Lucie Pécheux
Elfride De Baere
C3
Conferentie
2017
Novel non-coding homozygous mutation 'Ghent +49A>G' in the iron-responsive element of L-ferritin causes hereditary hyperferritinaemia-cataract syndrome
Stijn Van de Sompele
Audrey Meunier
Lucie Pécheux
Elfride De Baere
C3
Conferentie
2017
SeX(X)Y genes : unraveling the molecular pathogenesis of disorders of sex development
Dorien Baetens
Martine Cools
Elfride De Baere
Proefschrift
2017
To B or not to B matured : a novel IKAROS haploinsufficiency kindred with incomplete penetrance both at clinical and cellular level
Delfien Bogaert
Hye Sun Kuehn
Carolien Bonroy
Katherine Calvo
Jo Dehoorne
Arnaud Vanlander
Marieke De Bruyne
Venetia Bigley
Petra Schelstraete
Frans De Baets
et al.
C3
Conferentie
2017
To B or not to B matured : a novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B cell maturation defects
Delfien Bogaert
Hye Sun Kuehn
Carolien Bonroy
Katherine Calvo
Jo Dehoorne
Arnaud Vanlander
Petra Schelstraete
Marieke De Bruyne
Urszula Cytlak
Venetia Bigley
et al.
C3
Conferentie
2017
Unraveling the molecular basis genetically heterogeneous developmental eye disorders
Basamat Almoallem Mohammed
Elfride De Baere
Philippe Kestelyn
Bart Leroy
Proefschrift
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
et al.
A1
Artikel in een tijdschrift
in
GENETICS IN MEDICINE
2017
2016
A restricted repertoire of de novo mutations in ITPR1 cause Gillespie syndrome with evidence for dominant-negative effect
Meriel McEntagart
Kathleen A Williamson
Jacqueline K Rainger
Ann Wheeler
Anne Seawright
Elfride De Baere
Hannah Verdin
L Therese Bergendahl
Alan Quigley
Joe Rainger
et al.
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
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
et al.
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
2016
CVID, isolated IgG deficiency and isolated IgG subclass deficiency : clinical features and B cell maturation of the Ghent cohort
Delfien Bogaert
Veronique De Backer
Tessa Kerre
Maria Bordon Cueto De Braem
Bart Lambrecht
Karim Vermaelen
Frans De Baets
Elfride De Baere
Melissa Dullaers
Filomeen Haerynck
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
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 genetische revolutie in beeld gebracht : nieuwe diagnostische mogelijkheden voor aandoeningen van de geslachtsontwikkeling
Dorien Baetens
Martine Cools
Elfride De Baere
A4
Artikel in een tijdschrift
in
GUNAÏKEIA (NEDERLANDSE EDITIE)
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
et al.
A1
Artikel in een tijdschrift
in
SCIENTIFIC REPORTS
2016
Disruption of a remote putative novel enhancer in the cis-regulatory domain of FOXL2 in a multigenerational Polynesian family with BPES
Hannah Verdin
Andrew Shelling
Andrea Vincent
Elfride De Baere
C3
Conferentie
2016
Disruption of a remote putative novel enhancer in the cis-regulatory domain of FOXL2 in a multigenerational Polynesian family with BPES
Hannah Verdin
Andrew Shelling
Andrea Vincent
Elfride De Baere
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 : 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
Familial Mediterranean fever mutations lift the obligatory requirement for microtubules in Pyrin inflammasome activation
Hanne Van Gorp
Pedro Henrique Viana Saavedra
Nathalia Moraes de Vasconcelos
Nina Van Opdenbosch
Lieselotte Vande Walle
Magdalena Matusiak
Giusi Prencipe
Antonella Insalaco
Filip Van Hauwermeiren
Dieter Demon
et al.
A1
Artikel in een tijdschrift
in
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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
Genes associated with common variable immunodeficiency: one diagnosis to rule them all?
Delfien Bogaert
Melissa Dullaers
Bart Lambrecht
Karim Vermaelen
Elfride De Baere
Filomeen Haerynck
A1
Artikel in een tijdschrift
in
JOURNAL OF MEDICAL GENETICS
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
et al.
C3
Conferentie
2016
Incidental findings : an opportunity for autonomy or a case of hidden heteronomy?
Marlies Saelaert
Heidi Mertes
Elfride De Baere
Ignaas Devisch
C3
Conferentie
2016
Inflammasomes in inflammatory disease
Hanne Van Gorp
Pedro Henrique Viana Saavedra
Nathalia Moraes de Vasconcelos
Nina Van Opdenbosch
Lieselotte Vande Walle
Magdalena Matusiak
Filip Van Hauwermeiren
G. Prencipe
Delfien Bogaert
Melissa Dullaers
et al.
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
et al.
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
et al.
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
et al.
C3
Conferentie
2016
JAK2 deficiency as a novel cause of impaired Th17 immunity
Filomeen Haerynck
Delfien Bogaert
Elfride De Baere
Kristof Van Schil
Frauke Coppieters
Marieke De Bruyne
Margot Hagendorens
Tessa Kerre
Frans De Baets
Maria Bordon Cueto De Braem
et al.
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
et al.
A1
Artikel in een tijdschrift
in
NATURE GENETICS
2016
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins
Przemyslaw Szafranski
Tomasz Gambin
Avinash V Dharmadhikari
Kadir Caner Akdemir
Shalini N Jhangiani
Jennifer Schuette
Nihal Godiwala
Svetlana A Yatsenko
Jessica Sebastian
Suneeta Madan-Khetarpal
et al.
A1
Artikel in een tijdschrift
in
HUMAN GENETICS
2016
Persistent rotavirus diarrhea post-transplant in a novel JAK3-SCID patient after vaccination
Delfien Bogaert
Kristof Van Schil
Tom Taghon
Maria Bordon Cueto De Braem
Carolien Bonroy
Melissa Dullaers
Elfride De Baere
Filomeen Haerynck
A1
Artikel in een tijdschrift
in
PEDIATRIC ALLERGY AND IMMUNOLOGY
2016
Photoreceptor progenitor mRNA analysis reveals exon skipping resulting from the ABCA4 c.5461-10T/C mutation in Stargardt disease
Riccardo Sangermano
Nathalie M Bax
Miriam Bauwens
L Ingeborgh Van den Born
Elfride De Baere
Alejandro Garanto
Rob WJ Collin
Angelique SA Goercharn-Ramlal
Anke HA den Engelsman-van Dijk
Klaus Rohrschneider
et al.
A1
Artikel in een tijdschrift
in
OPHTHALMOLOGY
2016
Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape
Hannah Verdin
Ana Fernández-Miñán
Sara Benito-Sanz
Sandra Janssens
Bert Callewaert
KATHLEEN DE WAELE
Jean De Schepper
Inge François
Björn Menten
Karen Heath
et al.
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
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
Recurrent cutaneous abscesses as the presenting manifestation of STAT1 gain-of-function mutation
Levi Hoste
Marieke De Bruyne
Delfien Bogaert
Elfride De Baere
Carolien Bonroy
Petra Schelstraete
Melissa Dullaers
Tom Vercruysse
Filomeen Haerynck
C3
Conferentie
2016
The immunophenotypical landscape of patients with primary antibody deficiencies and their asymptomatic first-degree relatives : arguments for a multifactorial aetiology
Delfien Bogaert
Pauline Depuydt
Katleen De Preter
Carolien Bonroy
Jan Philippé
Maria Bordon Cueto De Braem
Tessa Kerre
Bart Lambrecht
Andrea Cerutti
Karim Vermaelen
et al.
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
et al.
A1
Artikel in een tijdschrift
in
OPHTHALMOLOGY
2016
When two rare diseases coincide : Kartagener Syndrome and Familial Mediterranean Fever
Levi Hoste
Frans De Baets
Sabine Van daele
Petra Schelstraete
Mieke Boon
Elfride De Baere
Frauke Coppieters
Filomeen Haerynck
C3
Conferentie
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
et al.
A1
Artikel in een tijdschrift
in
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
2015
A novel Janus kinase 3 (JAK3) mutation in a patient with severe combined immunodeficiency
Delfien Bogaert
Kristof Van Schil
Tom Taghon
Maria Bordon Cueto De Braem
Melissa Dullaers
Elfride De Baere
Filomeen Haerynck
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 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
et al.
A1
Artikel in een tijdschrift
in
HUMAN MUTATION
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
et al.
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
2015
Blepharophimosis, ptosis, and epicanthus inversus
Hannah Verdin
Elfride De Baere
Hoofdstuk in een boek
in
GeneReviews®
2015
Calcium and bone homeostasis in heterozygous carrier's of CYP24A1 mutations: a cross-sectional study
Martine Cools
Stefan Goemaere
Dorien Baetens
Ann Raes
An Desloovere
Jean Kaufman
Jean De Schepper
Ivo Jans
Dirk Vanderschueren
Jaak Billen
et al.
A1
Artikel in een tijdschrift
in
BONE
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
et al.
A1
Artikel in een tijdschrift
in
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
2015
Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion
Kristof Van Schil
Françoise Meire
Marcus Karlstetter
Miriam Bauwens
Hannah Verdin
Frauke Coppieters
Eva Scheiffert
Christian Van Nechel
Thomas Langmann
Nicolas Deconinck
et al.
A1
Artikel in een tijdschrift
in
GENETICS IN MEDICINE
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
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
et al.
A1
Artikel in een tijdschrift
in
HUMAN MUTATION
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
et al.
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
Françoise Meire
Miriam Bauwens
Hannah Verdin
Frauke Coppieters
Eva Scheiffert
Nicolas Deconinck
Thomas Langmann
Elfride De Baere
C3
Conferentie
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
Mother and daughter became father and son : a case report
TATJANA SAJEVETS
Charlotte Verroken
GUNTER HEYLENS
Elfride De Baere
Guy T'Sjoen
A1
Artikel in een tijdschrift
in
ASIAN JOURNAL OF ANDROLOGY
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
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
et al.
A1
Artikel in een tijdschrift
in
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
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
et al.
A1
Artikel in een tijdschrift
in
MOLECULAR GENETICS & GENOMIC MEDICINE
2015
Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape
Hannah Verdin
Ana Fernández-Miñán
Sara Benito-Sanz
Sandra Janssens
Bert Callewaert
KATHLEEN DE WAELE
Jean De Schepper
Inge François
Björn Menten
Karen E Heath
et al.
A1
Artikel in een tijdschrift
in
SCIENTIFIC REPORTS
2015
Profiling of upstream enhancers and chromatin conformation of the SHOX CIS-regulatory landscape
Hannah Verdin
Ana Fernández-Miñán
Sara Benito-Sanz
Sandra Janssens
Bert Callewaert
KATHLEEN DE WAELE
Jean De Schepper
Inge François
Björn Menten
Karen Heath
et al.
C3
Conferentie
2015
Profiling of upstream enhancers and chromatin conformation of the SHOX CIS-regulatory landscape.
Hannah Verdin
Ana Fernández-Miñán
Sara Benito-Sanz
Sandra Janssens
Bert Callewaert
KATHLEEN DE WAELE
Jean De Schepper
Inge François
Björn Menten
José Luis Gómez-Skarmeta
et al.
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
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
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
Submicroscopic deletions at 13q32.1 cause congenital microcoria
Lucas Fares-Taie
Sylvie Gerber
Akihiko Tawara
Arturo Ramirez-Miranda
Jean-Yves Douet
Hannah Verdin
Antoine Guilloux
Juan C Zenteno
Hiroyuki Kondo
Hugo Moisset
et al.
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
2015
2014
A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma
Muhammad Ajmal
Muhammad Imran Khan
Kornelia Neveling
Yar Muhammad Khan
Maleeha Azam
Nadia Khalida Waheed
Christian P Hamel
Tamar Ben-Yosef
Elfride De Baere
Robert K Koenekoop
et al.
A1
Artikel in een tijdschrift
in
JOURNAL OF MEDICAL GENETICS
2014
Clinical presentation of hyper-IgE syndrome in a family with impaired IL-22 production and STAT3 phosphorylation
Filomeen Haerynck
Delfien Bogaert
Elfride De Baere
Bart Lambrecht
Karim Vermaelen
Veronique Debacker
Kristof Van Schil
Frans De Baets
Petra Schelstraete
Maria Bordon Cueto De Braem
et al.
C3
Conferentie
2014
Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)
Reena Gulati
Hannah Verdin
Dhanapathi Halanaik
B Vishnu Bhat
Elfride De Baere
A1
Artikel in een tijdschrift
in
EUROPEAN JOURNAL OF MEDICAL 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
De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation
Nathalie Fieremans
Marijke Bauters
Stefanie Belet
Jelle Verbeeck
Anna C Jansen
Sara Seneca
Filip Roelens
Elfride De Baere
Peter Marynen
Guy Froyen
A1
Artikel in een tijdschrift
in
HUMAN GENETICS
2014
Deciphering the cis-regulatory landscape of SOX9 implicated in craniofacial development and isolated Pierre Robin sequence
Elfride De Baere
Redactioneel materiaal
2014
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy
Susanne Roosing
Ideke JC Lamers
Erik de Vrieze
L Ingeborgh van den Born
Stanley Lambertus
Heleen H Arts
Theo A Peters
Carel B Hoyng
Hannie Kremer
Lisette Hetterschijt
et al.
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
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
Extensive clinical, hormonal and genetic screening in a large consecutive series of 46, XY neonates and infants with atypical sexual development
Dorien Baetens
Wilhelm Mladenov
BARBARA DELLE CHIAIE
Björn Menten
An Desloovere
Violeta Iotova
Bert Callewaert
Erik Van Laecke
Piet Hoebeke
Elfride De Baere
et al.
A1
Artikel in een tijdschrift
in
ORPHANET JOURNAL OF RARE DISEASES
2014
FLH type 5 caused by a novel mutation in STXBP2 gene : an unusual cause of failure to thrive and diarrhea in infancy
Filomeen Haerynck
Ruth De Bruyne
Melissa Dullaers
ROSELYNE UWERA
Bert Callewaert
Elfride De Baere
Myriam Van Winckel
Stephanie Van Biervliet
Sebastien van de Velde
Victoria Bordon
C3
Conferentie
2014
Heterozygous coding ZNF469 variants enriched in New Zealand patients with isolated keratoconus
Elfride De Baere
Redactioneel materiaal
2014
Homozygous deletion of glutamate receptor gene GRID2 causes early-onset cerebellar ataxia and retinal dystrophy
Kristof Van Schil
Marcus Karlstetter
Françoise Meire
Miriam Bauwens
Hannah Verdin
Frauke Coppieters
Eva Scheiffert
Nicolas Deconinck
Thomas Langmann
Elfride De Baere
C3
Conferentie
2014
Homozygous deletion of glutamate receptor gene GRID2 causes early-onset cerebellar ataxia and retinal dystrophy
Kristof Van Schil
Marcus Karlstetter
Françoise Meire
Miriam Bauwens
Hannah Verdin
Frauke Coppieters
Eva Scheiffert
Nicolas Deconinck
Thomas Langmann
Elfride De Baere
C3
Conferentie
2014
Homozygous deletion of glutamate receptor gene GRID2 causes new hotfoot mutant phenotype, characterized by early-onset cerebellar ataxia and retinal dystrophy
Kristof Van Schil
Marcus Karlstetter
Françoise Meire
Miriam Bauwens
Hannah Verdin
Frauke Coppieters
Eva Scheiffert
Nicolas Deconinck
Thomas Langmann
Elfride De Baere
C3
Conferentie
2014
Homozygous deletion of glutamate receptor gene GRID2 causes new human hotfoot mutant phenotype, characterized by early-onset cerebellar ataxia and retinal dystrophy
Kristof Van Schil
Marcus Karlstetter
Françoise Meire
Miriam Bauwens
Hannah Verdin
Frauke Coppieters
Eva Scheiffert
Nicolas Deconinck
Thomas Langmann
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
et al.
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
Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics
Hannah Verdin
Elena A Sorokina
Françoise Meire
Ingele Casteels
Thomy de Ravel
Elena V Semina
Elfride De Baere
A1
Artikel in een tijdschrift
in
ORPHANET JOURNAL OF RARE DISEASES
2014
Novel insights into the molecular pathogenesis of three monogenic developmental conditions
Hannah Verdin
Elfride De Baere
Proefschrift
2014
Structural and numerical changes of chromosome X in patients with esophageal atresia
Erwin Brosens
Elisabeth M de Jong
Tahsin Stefan Barakat
Bert H Eussen
Barbara D'haene
Elfride De Baere
Hannah Verdin
Pino J Poddighe
Robert-Jan Galjaard
Joost Gribnau
et al.
A1
Artikel in een tijdschrift
in
EUROPEAN JOURNAL OF HUMAN GENETICS
2014
Study of the regulatory landscape of SHOX in 503 LWD and ISS cases uncovers a key role of the upstream cis-regulatory element CNE-3
Hannah Verdin
Ana Fernández-Miñán
Kim De Leeneer
Liza Borms
Sandra Janssens
Bert Callewaert
Fransiska Malfait
Ariana Kariminejad
KATHLEEN DE WAELE
Inge François
et al.
C3
Conferentie
2014
Use of an integrative classification system and next-generation sequencing strategies for gene identification in common variable immunodeficiency disorder (CVID)
Delfien Bogaert
Melissa Dullaers
Filomeen Haerynck
Elfride De Baere
Karim Vermaelen
C3
Conferentie
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
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
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
Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies
Mika Asai-Coakwell
Lindsey March
Michele DuVal
Irma Lopez
Curtis R French
Jakub Famulski
Elfride De Baere
Peter J Francis
Periasamy Sundaresan
Yves Sauvé
et al.
A1
Artikel in een tijdschrift
in
HUMAN MOLECULAR GENETICS
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
Forkhead transcription factors in genetic disease
Dorien Baetens
Hannah Verdin
Martine Cools
Elfride De Baere
Hoofdstuk in een boek
in
eLS
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
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
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
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
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
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
et al.
A1
Artikel in een tijdschrift
in
OPHTHALMOLOGY
2013
Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain
Hannah Verdin
Barbara D'haene
DIANE BEYSEN
Yana Novikova
Björn Menten
Tom Sante
Pablo Lapunzina
Julian Nevado
Claudio MB Carvalho
James R Lupski
et al.
A1
Artikel in een tijdschrift
in
PLOS GENETICS
2013
Mitotic microhomology-mediated replication-based mechanisms underlie non-recurrent pathogenic microdeletions of the FOXL2 gene or its regulatory domain
Hannah Verdin
Barbara D'haene
DIANE BEYSEN
Yana Novikova
Björn Menten
Tom Sante
Pablo Lapunzina
Julian Nevado
Claudia Carvalho
James Lupski
et al.
C3
Conferentie
2013
Mutations in IMPG1 cause vitelliform macular dystrophies
Gaël Manes
Isabelle Meunier
Almudena Avila-Fernández
Sandro Banfi
Guylène Le Meur
Xavier Zanlonghi
Marta Corton
Francesca Simonelli
Philippe Brabet
Gilles Labesse
et al.
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
2013
Peculiar fundus abnormalities and pathognomonic electrophysiological findings in a 14-month-old boy with NR2E3 mutations
Catherine Cassiman
Werner Spileers
Elfride De Baere
Thomy de Ravel
Ingele Casteels
A1
Artikel in een tijdschrift
in
OPHTHALMIC GENETICS
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
Screening of a large cohort of Leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations
Donna S Mackay
Arundhati Dev Borman
Ruifang Sui
L Indeborgh van den Born
Eliot L Berson
Louise A Ocaka
Alice E Davidson
John R Heckenlively
Kari Branham
Huanan Ren
et al.
A1
Artikel in een tijdschrift
in
HUMAN MUTATION
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
et al.
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
et al.
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
et al.
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
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
et al.
A1
Artikel in een tijdschrift
in
ARCHIVES OF OPHTHALMOLOGY
2012
Blepharophimosis-ptosis-epicanthus inversus syndrome plus: deletion 3q22.3q23 in a patient with characteristic facial features and with genital anomalies, spastic diplegia, and speech delay
Stacy Zahanova
Brandon Meaney
Beata Łabieniec
Hannah Verdin
Elfride De Baere
Malgorzata JM Nowaczyk
A1
Artikel in een tijdschrift
in
CLINICAL DYSMORPHOLOGY
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
et al.
A1
Artikel in een tijdschrift
in
OPHTHALMOLOGY
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
FOXL2 impairment in human disease
Hannah Verdin
Elfride De Baere
A1
Artikel in een tijdschrift
in
HORMONE RESEARCH IN PAEDIATRICS
2012
Gender identity disorder in twins: a review of the case report literature
GUNTER HEYLENS
GRETA DE CUYPERE
Kenneth J Zucker
Cleo Schelfaut
Els Elaut
HEIDI VANDEN BOSSCHE
Elfride De Baere
Guy T'Sjoen
A1
Artikel in een tijdschrift
in
JOURNAL OF SEXUAL MEDICINE
2012
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
Matthew A Deardorff
Masashige Bando
Ryuichiro Nakato
Erwan Watrin
Takhiko Itoh
Masashi Minamino
Katsuya Saitoh
Makiko Komata
Yuki Katou
Dinah Clark
et al.
A1
Artikel in een tijdschrift
in
NATURE
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
Identification of a novel, homozygous PCDH15 deletion in an USH1 patient using identity-by-descent mapping with a high-density SNP microarray
Miriam Bauwens
Frauke Coppieters
Hannah Verdin
Françoise Meire
Elfride De Baere
C3
Conferentie
2012
Identification of a novel, homozygous PCDH15 deletion in an USH1 patient using identity-by-descent mapping with a high-density SNP microarray
Miriam Bauwens
Frauke Coppieters
Hannah Verdin
Françoise Meire
Elfride De Baere
C3
Conferentie
2012
Identification of a novel, homozygous PCDH15 deletion in an USH1 patient using identity-by-descent mapping with a high-density SNP microarray
Miriam Bauwens
Frauke Coppieters
Hannah Verdin
Françoise Meire
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
et al.
A1
Artikel in een tijdschrift
in
GENETICS IN MEDICINE
2012
Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II
Alireza Haghighi
Hannah Verdin
Hamidreza Haghighi-Kakhki
Niloofar Piri
Nasrollah Saleh Gohari
Elfride De Baere
A1
Artikel in een tijdschrift
in
MOLECULAR VISION
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
et al.
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
2012
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation
Peter M Krawitz
Yoshiko Murakami
Jochen Hecht
Ulrike Krüger
Susan E Holder
Geert R Mortier
BARBARA DELLE CHIAIE
Elfride De Baere
Miles D Thompson
Tony Roscioli
et al.
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
et al.
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
et al.
C3
Conferentie
2012
TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy
Julie Désir
Frauke Coppieters
Nicole van Regemorter
Elfride De Baere
Marc Abramowicz
Monique Cordonnier
A1
Artikel in een tijdschrift
in
MOLECULAR VISION
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
et al.
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
2012
2011
Blepharophimosis-ptosis-epicanthus inversus syndrome
Carla Graziadio
Felipe Nora de Moraes
RafaelFabiano Machado Rosa
Paulo Ricardo Gazzola Zen
Giovanni Marcos Travi
Carolina Waldman
Cristina Touguinha Neves Medina
Elfride De Baere
Giorgio Adriano Paskulin
A1
Artikel in een tijdschrift
in
PEDIATRICS INTERNATIONAL
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
et al.
Redactioneel materiaal
2011
Clinical utility gene card for: Axenfeld-Rieger syndrome
Nicole Weisschuh
Elfride De Baere
Bernd Wissinger
Zeynep Tumer
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
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
et al.
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
et al.
A1
Artikel in een tijdschrift
in
INVESTIGATIVE OPHTHALMOLOGY
2011
High-resolution breakpoint mapping of 10 regulatory and 32 FOXL2 encompassing deletions in BPES using targeted microarrays
Hannah Verdin
Barbara D'haene
Yana Novikova
Pablo Lapunzina
Julian Nevado
Björn Menten
Elfride De Baere
C3
Conferentie
2011
High-resolution breakpoint mapping of 38 regulatory and FOXL2 encompassing deletions in BPES using targeted microarrays
Hannah Verdin
Barbara D'haene
Yana Novikova
Pablo Lapunzina
Julian Nevado
Björn Menten
Elfride De Baere
C3
Conferentie
2011
High-resolution breakpoint mapping of 38 regulatory and FOXL2 encompassing deletions in BPES using targeted microarrays
Hannah Verdin
Barbara D'haene
Pablo Lapunzina
Julian Nevado
Björn Menten
Elfride De Baere
C3
Conferentie
2011
IQCB1 Mutations in Patients with Leber Congenital Amaurosis
Alejandro Estrada-Cuzcano
Robert K Koenekoop
Frauke Coppieters
Susanne Kohl
Irma Lopez
Rob WJ Collin
Elfride De Baere
Debbie Roeleveld
Jonah Marek
Antje Bernd
et al.
A1
Artikel in een tijdschrift
in
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
2011
Identification and characterization of molecular defects underlying retinal dystrophies
Frauke Coppieters
Elfride De Baere
Bart Leroy
Proefschrift
2011
Identification of novel genes associated with systemic sclerosis through genome wide association study follow-up
José Ezequiel Martin
Jasper Broen
Olga Y Gorlova
Madelon C Vonk
Alexandre Voskuyl
Annemie Schuerwegh
Marie Vanthuyne
Vanessa Smith
Rene Westhovens
Elfride De Baere
et al.
C3
Conferentie
2011
Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy
Olga Gorlova
Jose-Ezequiel Martin
Blanca Rueda
Bobby PC Koeleman
Jun Ying
Maria Teruel
Lina-Marcela Diaz-Gallo
Jasper C Broen
Madelon C Vonk
Carmen P Simeon
et al.
A1
Artikel in een tijdschrift
in
PLOS GENETICS
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
Increased levator muscle function by supramaximal resection in patients with blepharophimosis-ptosis-epicanthus inversus syndrome
CHRISTIAN DECOCK
Akash D Shah
Christophe Delaey
Ramses Forsyth
WOUTER BAUTERS
Philippe Kestelyn
Elfride De Baere
Ilse Claerhout
A1
Artikel in een tijdschrift
in
ARCHIVES OF OPHTHALMOLOGY
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
et al.
A1
Artikel in een tijdschrift
in
HUMAN MUTATION
2011
Mitotic microhomology-mediated replication-based mechanisms underlie non-recurrent pathogenic microdeletions of the FOXL2 gene or its regulatory domain
Hannah Verdin
Barbara D'haene
Yana Novikova
DIANE BEYSEN
Pablo Lapunzina
Julian Nevado
Claudia Carvalho
James Lupski
Björn Menten
Elfride De Baere
C3
Conferentie
2011
Nonsyndromic bilateral and unilateral optic nerve aplasia: first familial occurrence and potential implication of CYP26A1 and CYP26C1 genes
Françoise Meire
Isabelle Delpierre
Cecile Brachet
Françoise Roulez
Chrisitan Van Nechel
Fanny Depasse
Catherine Christophe
Björn Menten
Elfride De Baere
A1
Artikel in een tijdschrift
in
MOLECULAR VISION
2011
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
FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions
Barbara D'haene
J Nevado
M Pugeat
G Pierquin
RB Lowry
W Reardon
A Delicado
S García-Miñaur
M Palomares
W Courtens
et al.
A1
Artikel in een tijdschrift
in
HUMAN MUTATION
2010
FOXL2 mutations lead to different ovarian phenotypes in BPES patients: Case Report
G Meduri
A Bachelot
C Duflos
B Bstandig
C Poirot
C Genestie
R Veitia
Elfride De Baere
P Touraine
A1
Artikel in een tijdschrift
in
HUMAN REPRODUCTION
2010
Functional Exploration of the Adult Ovarian Granulosa Cell Tumor-Associated Somatic FOXL2 Mutation p.Cys134Trp (c.402C > G)
BA Benayoun
S Caburet
A Dipietromaria
A Georges
Barbara D'Haene
PJE Pandaranayaka
D L'Hote
AL Todeschini
S Krishnaswamy
M Fellous
et al.
A1
Artikel in een tijdschrift
in
PLOS ONE
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
et al.
A1
Artikel in een tijdschrift
in
HUMAN MUTATION
2010
Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus
Timothy RDJ Radstake
Olga Gorlova
Blanca Rueda
Jose-Ezequiel Martin
Behrooz Z Alizadeh
Rogelio Palomino-Morales
Marieke J Coenen
Madelon C Vonk
Alexandre E Voskuyl
Annemie J Schuerwegh
et al.
A1
Artikel in een tijdschrift
in
NATURE GENETICS
2010
High-resolution breakpoint mapping of 38 regulatory and FOXL2 encompassing deletions in BPES using targeted microarrays
Hannah Verdin
Barbara D'haene
Pablo Lapunzina
Julian Nevado
Björn Menten
Elfride De Baere
C3
Conferentie
2010
Improved Molecular Diagnostics of Idiopathic Short Stature and Allied Disorders: Quantitative Polymerase Chain Reaction-Based Copy Number Profiling of SHOX and Pseudoautosomal Region 1
B D'haene
Jan Hellemans
Margarita Craen
Jean De Schepper
K Devriendt
JP Fryns
K Keymolen
Eveline Debals
A de Klein
EM de Jong
et al.
A1
Artikel in een tijdschrift
in
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
2010
Le rôle des altérations de FOXL2 dans les insuffisances ovariennes prématurées syndromiques et non syndromiques
Elfride De Baere
A1
Artikel in een tijdschrift
in
ANNALES D ENDOCRINOLOGIE
2010
The study of long-range genetic defects in human transcription factor related disorders
Barbara D'haene
Anne De Paepe
Elfride De Baere
Proefschrift
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
et al.
A1
Artikel in een tijdschrift
in
Lancet
2009
Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach-Rott syndrome
Vared Shkalim
Hagit N Baris
Gavriel Gal
Ruth Gleiss
Shlomo Calderon
Marja Wessels
Anneke Maat-Kievit
Björn Menten
Elfride De Baere
Raoul CM Hennekam
et al.
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2009
Blepharophimosis, ptosis, and epicanthus inversus
Elfride De Baere
Hoofdstuk in een boek
in
GeneReviews®
2009
Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening
Barbara D'haene
C Attanasio
DIANE BEYSEN
J Dostie
E Lemire
P Bouchard
M Field
K Jones
B Lorenz
Björn Menten
et al.
A1
Artikel in een tijdschrift
in
PLOS GENETICS
2009
FOXL2 Mutations and Genomic Rearrangements in BPES
DIANE BEYSEN
Anne De Paepe
Elfride De Baere
A1
Artikel in een tijdschrift
in
HUMAN MUTATION
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
et al.
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
et al.
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
2009
Klinische genetica, cytogenetica en moleculaire genetica
Elfride De Baere
Juliaan Leroy
Anne De Paepe
Hoofdstuk in een boek
in
Codex medicus
2009
Positive and negative feedback regulates the transcription factor FOXL2 in response to cell stress: evidence for a regulatory imbalance induced by disease-causing mutations
Bérénice A Benayoun
Frank Batista
Jana Auer
Aurélie Dipietromaria
David L'Hôte
Elfride De Baere
Reiner A Veitia
A1
Artikel in een tijdschrift
in
HUMAN MOLECULAR GENETICS
2009
Rieger syndrome is not associated with PAX6 deletion: a correction to Acta Ophthalmol Scand 2001: 79: 201–203
Ruth Riise
Barbara D'haene
Elfride De Baere
Karen Grønskov
Karen Brøndum-Nielsen
Correctie
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
et al.
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
2009
The transcription factor FOXL2 in ovarian function and dysfunction
Elfride De Baere
Marc Fellous
Reiner A Veitia
A1
Artikel in een tijdschrift
in
FOLIA HISTOCHEMICA ET CYTOBIOLOGICA
2009
2008
A novel mutation c.118delA in exon 1 of the androgen receptor gene resulting in complete androgen insensitivity syndrome within a large family
Karel Decaestecker
Pascal Philibert
Elfride De Baere
Piet Hoebeke
Jean Kaufman
Charles Sultan
Guy T'Sjoen
Redactioneel materiaal
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
et al.
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
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
et al.
A1
Artikel in een tijdschrift
in
HUMAN MUTATION
2008
Identification of copy number variants associated with BPES-like phenotypes
ACJ Gijsbers
Barbara D'haene
Y Hilhorst-Hofstee
M Mannens
B Albrecht
J Seidel
DR Witt
MK Maisenbacher
Bart Loeys
T van Essen
et al.
A1
Artikel in een tijdschrift
in
HUMAN GENETICS
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
2007
A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction
J NALLATHAMBI
L MOUMNE
Elfride De Baere
DIANE BEYSEN
K USHA
P SUNDARESAN
RA VEITIA
A1
Artikel in een tijdschrift
in
HUMAN GENETICS
2007
A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases
RGH Cotton
AD Auerbach
AF Brown
P Carrera
J Christodoulou
M Claustre
J Compton
DW Cox
Elfride De Baere
JT den Dunnen
et al.
Redactioneel materiaal
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
et al.
A1
Artikel in een tijdschrift
in
JOURNAL OF MEDICAL GENETICS
2007
FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome
Jeyabalan Nallathambi
Guruswamy Neethirajan
Kim Usha
Jethani Jitendra
Elfride De Baere
Periasamy Sundaresan
A1
Artikel in een tijdschrift
in
JOURNAL OF GENETICS
2007
New insights in the molecular pathogenesis of the blepharophimosis syndrome (BPES)
DIANE BEYSEN
Anne De Paepe
Elfride De Baere
Proefschrift
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
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
et al.
A1
Artikel in een tijdschrift
in
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
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
et al.
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
2005
Foxl2 gene and the development of the ovary : a story about goat, mouse, fish and woman
Daniel Baron
Frank Batista
Stéphane Chaffaux
Julie Cocquet
Corinne Cotinot
Edmond Cribiu
Elfride De Baere
Yann Guiguen
Francis Jaubert
Eric Pailhoux
et al.
A1
Artikel in een tijdschrift
in
REPRODUCTION NUTRITION DEVELOPMENT
2005
Klinische genetica, cytogenetica en moleculaire genetica
Elfride De Baere
Anne De Paepe
Juliaan Leroy
Hoofdstuk in een boek
in
Codex medicus
2005
Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunction
Elfride De Baere
Silvia Copelli
Sandrine Caburet
Paul Laissue
DIANE BEYSEN
Sophie Christin-Maitre
Philippe Bouchard
Reiner Veita
Marc Fellous
A2
Artikel in een tijdschrift
in
PEDIATRIC ENDOCRINOLOGY REVIEWS
2005
2004
A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation
S CABURET
A DEMAREZ
L MOUMNE
M FELLOUS
Elfride De Baere
RA VEITIA
A1
Artikel in een tijdschrift
in
JOURNAL OF MEDICAL GENETICS
2004
The human FOXL2 mutation database
DIANE BEYSEN
Jo Vandesompele
L MESSIAEN
Anne De Paepe
Elfride De Baere
A1
Artikel in een tijdschrift
in
HUMAN MUTATION
2004
2003
Compositional biases and polyalanine runs in humans
J COCQUET
Elfride De Baere
S CABURET
RA VEITIA
A1
Artikel in een tijdschrift
in
GENETICS
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
et al.
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
2003
More than 125 FOXL2 mutations and variants in BPES and POF patients in the human FOXL2 allelic variant database
DIANE BEYSEN
Jo Vandesompele
Filip Pattyn
Anne De Paepe
Ludwine Messiaen
Elfride De Baere
C3
Conferentie
2003
Structure, evolution and expression of the FOXL2 transcription unit
J COCQUET
Elfride De Baere
M GAREIL
M PANNETIER
X XIA
M FELLOUS
RA VEITIA
A1
Artikel in een tijdschrift
in
CYTOGENETIC AND GENOME RESEARCH
2003
2002
Evolution and expression of FOXL2
J COCQUET
E PAILHOUX
F JAUBERT
N SERVEL
X XIA
M PANNETIER
Elfride De Baere
Ludwine Messiaen
C COTINOT
M FELLOUS
et al.
A1
Artikel in een tijdschrift
in
JOURNAL OF MEDICAL GENETICS
2002
FOXL2 mutation screening in a large panel of POF patients and XX males
Elfride De Baere
B Lemercier
D Durval
Ludwine Messiaen
M Fellous
R Veitia
A1
Artikel in een tijdschrift
in
JOURNAL OF MEDICAL GENETICS
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
et al.
C3
Conferentie
2002
2001
Cloning and characterization of human WDR10, a novel gene located at 3q21 encoding a WD-repeat protein that is highly expressed in pituitary and testis
C GROSS
Elfride De Baere
A LO
WH CHANG
Ludwine Messiaen
A1
Artikel in een tijdschrift
in
DNA AND CELL BIOLOGY
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
et al.
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
et al.
A1
Artikel in een tijdschrift
in
HUMAN MOLECULAR GENETICS
2001
2000
DNA-onderzoek in het begin van de 21ste eeuw: dromen en werkelijkheid.
Elfride De Baere
Ludwine Messiaen
A2
Artikel in een tijdschrift
in
TIJDSCHRIFT VOOR GENEESKUNDE
2000
Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES.
Elfride De Baere
T FUKUSHIMA
K SMALL
N UDAR
G VAN CAMP
K VERHOEVEN
A PALOTIE
A DE PAEPE
A1
Artikel in een tijdschrift
in
GENOMICS
2000
Transcript mapping of the BPES critical region at 3q23: identification of novel candidate genes
Elfride De Baere
Leen De Vuyst
Anne De Paepe
Ludwine Messiaen
C3
Conferentie
2000
1999
Closing in an the BPES gene on 3q23: Mapping of a de nova reciprocal translocation t(3;4)(q23;p15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and beta '-COP, distal to the breakpoint
Elfride De Baere
Nadine Van Roy
Franki Speleman
Y FUKUSHIMA
Anne De Paepe
Ludwine Messiaen
A1
Artikel in een tijdschrift
in
GENOMICS
1999
Exclusion of the beta '-COP gene and identification of a novel candidate gene for the blepharophimosis syndrome (BPES)
Elfride De Baere
E ROMAN
Y FUKUSHIMA
K VERHOEVEN
G VAN CAMP
Anne De Paepe
Ludwine Messiaen
C3
Conferentie
1999
1998
Assignment of SHOX2 (alias OG12X and SHOT) to human chromosome bands 3q25 -> q26.1 by in situ hybridization.
Elfride De Baere
Franki Speleman
Nadine Van Roy
Anne De Paepe
Ludwine Messiaen
A1
Artikel in een tijdschrift
in
CYTOGENETICS AND CELL GENETICS
1998
Assignment of the cellular retinol-binding protein 1 gene (RBP1) and of the coatomer beta ' subunit gene (COPB2) to human chromosome band 3q23 by in situ hybridization
Elfride De Baere
Franki Speleman
Nadine Van Roy
Anne De Paepe
Ludwine Messiaen
A1
Artikel in een tijdschrift
in
CYTOGENETICS AND CELL GENETICS
1998
Assignment of the cellular retinol-binding protein 2 gene (RBP2) to human chromosome band 3q23 by in situ hybridization
Elfride De Baere
Franki Speleman
Nadine Van Roy
K MORTIER
Anne De Paepe
Ludwine Messiaen
A1
Artikel in een tijdschrift
in
CYTOGENETICS AND CELL GENETICS
1998