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Researcher
Stijn Van de Sompele
Profile
Projects
Publications
Activities
Awards & Distinctions
38
Results
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 P Leroy
et al.
U
Journal Article
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.
U
Journal Article
in
Molecular Autism
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
Journal Article
in
CLINICAL GENETICS
2025
Inherited retinal disease gene panel in posterior or panuveitis with dystrophic featurs
Stéphane Abramowicz
Audrey Meunier
Dafina Draganova
Laure Caspers
Marieke De Bruyne
Stijn Van de Sompele
Elfride De Baere
Bart P. Leroy
Laurence Postelmans
François Willermain
U
Journal Article
in
Retina
2025
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
Journal Article
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
Journal Article
in
GENOME BIOLOGY
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 P. Leroy
François Willermain
et al.
U
Journal Article
in
Retina
2024
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
Conference
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
Conference
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
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
Conference
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
Journal Article
in
JOURNAL OF VITREORETINAL DISEASES
2023
2022
Expanding the coding and non-coding genomic landscape of genetic eye diseases
Stijn Van de Sompele
Elfride De Baere
Frauke Coppieters
Kris Vleminckx
Dissertation
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
Journal Article
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
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
Journal Article
in
MOLECULAR VISION
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
Journal Article
in
SCIENTIFIC REPORTS
2021
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
Conference
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
Conference
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
Conference
2020
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
Journal Article
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
Conference
2019
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
Conference
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
Conference
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
Conference
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
Journal Article
in
GENETICS IN MEDICINE
2018
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
Journal Article
in
SCIENTIFIC REPORTS
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
Conference
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
Conference
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
Conference
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
Conference
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
Conference
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
Conference
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
Conference
2017
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
Conference
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
Conference
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
Conference
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
Conference
2016