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
9000 Gent
Email: Stijn.VandeSompele@UGent.be
ORCID iD: 0000-0002-3294-0668

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- Journal Article
- 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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- 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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- 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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- Conference Paper
- 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 (UGent) , 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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- Journal Article
- A1
- open access
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

Kristof Van Schil (UGent) , Sarah Naessens (UGent) , Stijn Van De Sompele (UGent) , Marjolein Carron (UGent) , Alexander Aslanidis, Caroline Van Cauwenbergh (UGent) , Anja Kathrin Mayer, Mattias Van Heetvelde (UGent) , Miriam Bauwens (UGent) , Hannah Verdin (UGent) , et al.

(2018) GENETICS IN MEDICINE. 20(2). p.202-213
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- Conference Paper
- C3
Missense mutation in CEP78 in a family with cone-rod dystrophy, sensorineural hearing loss, obesity and subfertility.

Giulia Ascari (UGent) , Stijn Van De Sompele (UGent) , Lara Derycke (UGent) , Gabriële Holtappels (UGent) , Olga Krysko (UGent) , Jo Van Dorpe (UGent) , David Creytens (UGent) , Thalia Van Laethem (UGent) , Irina Balikova (UGent) , Jan Gerris (UGent) , et al.

(2017) European Human Genetics conference, Abstracts.
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- Conference Paper
- C3
Missense mutation in CEP78 in a family with cone-rod dystrophy, sensorineural hearing loss, obesity and subfertility

Giulia Ascari (UGent) , Stijn Van De Sompele (UGent) , Lara Derycke (UGent) , Gabriële Holtappels (UGent) , Olga Krysko (UGent) , Jo Van Dorpe (UGent) , David Creytens (UGent) , Thalia Van Laethem (UGent) , Irina Balikova (UGent) , Jan Gerris (UGent) , et al.

(2017) Young Researcher Vision Camp, Abstracts.
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- Conference Paper
- C3
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 (UGent) , Audrey Meunier, Lucie Pécheux and Elfride De Baere (UGent)

(2017) Science Day, Faculty of Medicine and Health Science, Ghent University, Abstracts.
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- Conference Paper
- C3
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 (UGent) , Audrey Meunier, Lucie Pécheux and Elfride De Baere (UGent)

(2017) Belgian Society for Human Genetics, 17th Annual meeting, Abstracts.

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