Academic Bibliography

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- 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)

(2018) European Human Genetics conference, Abstracts.
Mark
- conference
- 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.
Mark
- conference
- 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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- journalArticle
- 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
Mark
- conference
- 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.
Mark
- conference
- C3
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.

(2017) Science Day, Faculty of Medicine and Health Science, Ghent University, Abstracts.
Mark
- conference
- 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.

(2017) American Society of Human Genetics, Annual meeting, Abstracts.
Mark
- conference
- C3
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) , Anne Kathrin Mayer, Mattias Van Heetvelde (UGent) , Miriam Bauwens (UGent) , Hannah Verdin (UGent) , et al.

(2017) Belgian Society for Human Genetics, 17th Annual meeting, Abstracts.
Mark
- conference
- 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.
Mark
- journalArticle
- A1
- open access
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 (UGent) , Lucie Pécheux, Jorge Couso, Audrey Meunier, Mayka Sanchez and Elfride De Baere (UGent)

(2017) SCIENTIFIC REPORTS. 7.

Academic Bibliography

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

Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation : rare novel disease genes and a multitude of novel variants in known disease genes

Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease expands the molecular and phenotypic spectrum of recently identified iRD genes

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

Novel non-coding homozygous mutation 'Ghent +49A>G' in the iron-responsive element of L-ferritin causes hereditary hyperferritinaemia-cataract syndrome

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation : rare novel disease genes and a multitude of novel variants in known disease genes

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

Novel non-coding homozygous mutation 'Ghent +49A>G' in the iron-responsive element of L-ferritin causes hereditary hyperferritinaemia-cataract syndrome

Functional characterization of a novel non-coding mutation 'Ghent +49A>G' in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome

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