Academic Bibliography

Search 200 years of publications by Ghent University researchers.

dr. ir. Kristof Van Schil

No current affiliation with UGent

ORCID iD: 0000-0001-5299-8851

Show Sort by

Add to list
- Journal Article
- A1
- open access
Loss of function of RIMS2 causes a syndromic congenital cone-rod synaptic disease with neurodevelopmental and pancreatic involvement

Sabrina Mechaussier, Basamat Almoallem Mohammed (UGent) , Christina Zeitz, Kristof Van Schil (UGent) , Laila Jeddawi, Jo Van Dorpe (UGent) , Alfredo Dueñas Rey (UGent) , Christel Condroyer, Olivier Pelle, Michel Polak, et al.

(2020) AMERICAN JOURNAL OF HUMAN GENETICS. 106(6). p.859-871
Add to list
- 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
Add to list
- 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
Add to list
- 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.
Add to list
- 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.
Add to list
- 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, 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.
Add to list
- 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, 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
Add to list
- Conference Paper
- 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, 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.
Add to list
- Conference Paper
- 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, 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.
Add to list
- 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, 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.

1
2
3
4
5

Next →