Ghent University Academic Bibliography

Your filters: cql: author="Dannhausen, Katharina" or (type any "bookEditor issueEditor" and editor="Dannhausen, Kath...

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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, Stijn Van de Sompele (UGent) , Nuria Gruartmoner Roura, Marjolein Carron, 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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- 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, Katharina Dannhausen, Sarah De Jaegere (UGent) , Maxim Vanpanteghem, Frauke Coppieters (UGent) , Marcus Karlstetter, et al.

(2017) American Society of Human Genetics, Annual meeting, Abstracts.
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- Journal Article
- A1
- open access
Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7

Kristof Van Schil (UGent) , Marcus Karlstetter, Alexander Aslanidis, Katharina Dannhausen, Maleeha Azam, Raheel Qamar, Bart Leroy (UGent) , Fanny Depasse, Thomas Langmann and Elfride De Baere (UGent)

(2016) SCIENTIFIC REPORTS. 18.
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- Journal Article
- A1
- open access
Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, a gene implicated in ubiquitination

Frauke Coppieters (UGent) , Giulia Ascari (UGent) , Katharina Dannhausen, Konstantinos Nikopoulos, Frank Peelman (UGent) , Marcus Karlstetter, Mingchu Xu, Cécile Brachet, Isabelle Meunier, Miltiadis K Tsilimbaris, et al.

(2016) AMERICAN JOURNAL OF HUMAN GENETICS. 99(2). p.470-480

Academic Bibliography

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

Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7

Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, a gene implicated in ubiquitination

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