Academic Bibliography

Search 200 years of publications by Ghent University researchers.

Sarah De Jaegere

Add to list
- Journal Article
- A1
- open access
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.
Add to list
- Journal Article
- A1
- open access
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss and reduced male fertility

Giulia Ascari (UGent) , Frank Peelman (UGent) , Pietro Farinelli, Toon Rosseel (UGent) , Nina Lambrechts, Kirsten A. Wunderlich, Matias Wagner, Konstantinos Nikopoulos, Pernille Martens, Irina Balikova (UGent) , et al.

(2020) HUMAN MUTATION. 41(5). p.998-1011
Add to list
- Journal Article
- A1
- open access
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy

Miriam Bauwens (UGent) , Stephan Storch, Nicole Weisschuh, Chantal Ceuterick-de Groote, Riet De Rycke (UGent) , Brecht Guillemyn (UGent) , Sarah De Jaegere (UGent) , Frauke Coppieters (UGent) , Rudy Van Coster (UGent) , Bart Leroy (UGent) , et al.

(2020) CLINICAL GENETICS. 97(3). p.426-436
Add to list
- Conference Paper
- C3
Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss

Giulia Ascari (UGent) , Frank Peelman (UGent) , Pietro Farinelli, Toon Rosseel (UGent) , Nina Lambrechts, Irina Balikova (UGent) , Lara Derycke (UGent) , Gabriële Holtappels (UGent) , Olga Krysko (UGent) , Thalia Van Laethem (UGent) , et al.

(2019)
Add to list
- Journal Article
- A1
- open access
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Miriam Bauwens (UGent) , Alejandro Garanto, Riccardo Sangermano, Sarah Naessens, Nicole Weisschuh, Julie De Zaeytijd (UGent) , Mubeen Khan, Françoise Sadler, Irina Balikova (UGent) , Caroline Van Cauwenbergh (UGent) , et al.

(2019) GENETICS IN MEDICINE. 21(8). p.1761-1771
Add to list
- Conference Paper
- C3
Coding and non-coding structural variants of ABCA4 contribute to the missing heritability in Stargardt disease, a prevalent inherited retinal disease

Miriam Bauwens (UGent) , Sarah Naessens, Caroline Van Cauwenbergh (UGent) , Thalia Van Laethem (UGent) , Sarah De Jaegere (UGent) , Irina Balikova (UGent) , Yves Sznajer, Julie De Zaeytijd (UGent) , Bart Leroy (UGent) and Elfride De Baere (UGent)

(2019) EUROPEAN JOURNAL OF HUMAN GENETICS. 27(1). p.42-43
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
Functional characterization of N-terminal TIMP3 mutation underlying Sorsby fundus dystrophy in Belgian and French pedigrees

Sarah Naessens, Delfien Syx (UGent) , Frank Peelman (UGent) , Roosmarijn Vandenbroucke (UGent) , Sarah De Jaegere (UGent) , Frédéric Smeets, Julie De Zaeytijd (UGent) , Bart Leroy (UGent) , Elfride De Baere (UGent) and Frauke Coppieters (UGent)

(2018) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 59(9).
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.

1
2
3
4

Next →