Academic Bibliography

Search 200 years of publications by Ghent University researchers.

Stijn Van De Sompele

Faculty of Medicine and Health Sciences > Department of Biomolecular Medicine

Work address: C. Heymanslaan 10, ingang 34 (MRB)
9000 Gent
Email: Stijn.VandeSompele@UGent.be
ORCID iD: 0000-0002-3294-0668

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- Journal Article
- A1
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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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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 (UGent) , 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 (UGent) , 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 (UGent) , 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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- A1
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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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- 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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- Conference Paper
- C3
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 (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) , Elfride De Baere (UGent) and Frauke Coppieters (UGent)

(2018) Belgian Society for Human Genetics, 18th Annual meeting, Abstracts.
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- C3
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 (UGent) , Sarah Naessens, Stijn Van De Sompele (UGent) , Nuria Gruartmoner Roura, Marjolein Carron (UGent) , Katharina Dannhausen, Sarah De Jaegere (UGent) , Maxim Vanpanteghem, Frauke Coppieters (UGent) , Marcus Karlstetter, et al.

(2018) Belgian Society for Human Genetics, 18th Annual meeting, Abstracts.

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