Academic Bibliography

Search 200 years of publications by Ghent University researchers.

Stijn Van de Sompele

Ghent University Hospital

Work address: Stalen medische genetica C. Heymanslaan 10
9000 Gent
Email: Stijn.VandeSompele@UGent.be
ORCID iD: 0000-0002-3294-0668

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- PhD Thesis
Expanding the coding and non-coding genomic landscape of genetic eye diseases

Stijn Van de Sompele (UGent)

(2022)
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- Miscellaneous
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 (UGent) , Kent W. Small, Münevver Burcu Cicekdal (UGent) , Victor Lopez Soriano (UGent) , Eva D'haene (UGent) , Fadi S. Shaya, Steven Agemy, Thijs Van der Snickt, Alfredo Dueñas Rey (UGent) , Toon Rosseel (UGent) , et al.

(2022) bioRxiv.
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- Journal Article
- A1
- open access
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 (UGent) , Karen Nuytemans, Andrea Vincent, Ozge Ozalp Yuregir, Emine Ciloglu, Cahfer Sariyildiz, Toon Rosseel (UGent) , Jessica Avetisjan, Nitin Udar, et al.

(2021) MOLECULAR VISION. 27. p.518-527
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- Journal Article
- A1
- open access
Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant

Ine Strubbe (UGent) , Caroline Van Cauwenbergh (UGent) , Julie De Zaeytijd (UGent) , Sarah De Jaegere (UGent) , Marieke De Bruyne (UGent) , Toon Rosseel (UGent) , Stijn Van de Sompele (UGent) , Elfride De Baere (UGent) and Bart Leroy (UGent)

(2021) SCIENTIFIC REPORTS. 11.
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- Conference Paper
- C3
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 (UGent) , Thijs Van der Snickt, Eva D'haene (UGent) , Sarah Vergult (UGent) , Petra Liskova, Carlo Rivolta, Jenneke van den Ende, Arthur A. Bergen, Irina Balikova (UGent) , Julie De Zaeytijd (UGent) , et al.

(2020) Retina Meeting, Abstracts.
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- Conference Paper
- C3
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 (UGent) , Thijs Van der Snickt, Eva D'haene (UGent) , Sarah Vergult (UGent) , Petra Liskova, Carlo Rivolta, Jenneke Van den Ende, Arthur A. Bergen, Irina Balikova (UGent) , Julie De Zaeytijd (UGent) , et al.

(2020) European Human Genetics Virtual Conference ESHG 2020.2, Abstracts.
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- Conference Paper
- C3
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 (UGent) , Thijs Van der Snickt, Eva D'haene (UGent) , Sarah Vergult (UGent) , Petra Liskova, Carlo Rivolta, Jenneke van den Ende, Arthur Bergen, Irina Balikova (UGent) , Julie De Zaeytijd (UGent) , et al.

(2020) 20th annual Belgian Society for Human Genetics meeting, Abstracts.
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- Journal Article
- A1
- open access
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

Stijn Van de Sompele (UGent) , Claire Smith, Marianthi Karali, Marta Corton, Kristof Van Schil (UGent) , Frank Peelman (UGent) , Timothy Cherry, Toon Rosseel (UGent) , Hannah Verdin (UGent) , Julien Derolez, et al.

(2019) GENETICS IN MEDICINE. 21(6). p.1319-1329
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- Conference Paper
- C3
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 (UGent) , Kristof Van Schil (UGent) , Caroline Van Cauwenbergh (UGent) , Toon Rosseel (UGent) , Sarah De Jaegere (UGent) , Thalia Van Laethem (UGent) , Irina Balikova (UGent) , Bart Leroy (UGent) , Frauke Coppieters (UGent) and Elfride De Baere (UGent)

(2019) EUROPEAN JOURNAL OF HUMAN GENETICS. 27(1). p.54-54
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- Conference Paper
- C3
Biallelic loss-of-function variants in RAX2, encoding a homeobox-containing Rax transcription factor, cause autosomal recessive inherited retinal disease

Stijn Van de Sompele (UGent) , Claire Smith, Marianthi Karali, Marta Corton, Kristof Van Schil (UGent) , Frank Peelman (UGent) , Timothy Cherry, Toon Rosseel (UGent) , Hannah Verdin (UGent) , Julien Derolez, et al.

(2018) American Society of Human Genetics, Annual meeting, Abstracts.

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