Researcher
Sarah De Jaegere
- Disciplines:Paediatrics and neonatology, Molecular and cell biology, Systems biology, Nursing, Genetics
Affiliations
- Department of Pediatrics and medical genetics (Department)
Member
From15 Sep 2005 → 13 May 2014 - Department of Ophthalmology (Department)
Member
From15 Sep 2003 → 14 Sep 2005
Publications
1 - 10 of 23
- Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant(2021)
Authors: Ine Strubbe, Julie De Zaeytijd, Sarah De Jaegere, Marieke De Bruyne, Toon Rosseel, Stijn Van de Sompele
- Functional characterization of the first missense variant in CEP78, a founder allele associated with coneU+2010rod dystrophy, hearing loss and reduced male fertility(2020)
Authors: Giulia Ascari, Pietro Farinelli, Toon Rosseel, Nina Lambrechts, Kirsten A. Wunderlich, Matias Wagner, Konstantinos Nikopoulos, Pernille Martens, Irina Balikova, Lara Derycke, et al.
Pages: 998 - 1011 - Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy(2020)
Authors: Miriam Bauwens, Stephan Storch, Nicole Weisschuh, Chantal Ceuterick-de Groote, Brecht Guillemyn, Sarah De Jaegere, Rudy Van Coster
Pages: 426 - 436 - 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(2019)Volume: 27
Authors: Stijn Van de Sompele, Kristof Van Schil, Toon Rosseel, Sarah De Jaegere, Irina Balikova
Pages: 54 - 54 - ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants(2019)
Authors: Miriam Bauwens, Alejandro Garanto, Riccardo Sangermano, Sarah Naessens, Nicole Weisschuh, Julie De Zaeytijd, Mubeen Khan, Françoise Sadler, Irina Balikova, Toon Rosseel, et al.
Pages: 1761 - 1771 - Coding and non-coding structural variants of ABCA4 contribute to the missing heritability in Stargardt disease, a prevalent inherited retinal disease(2019)Volume: 27
Authors: Miriam Bauwens, Sarah Naessens, Sarah De Jaegere, Irina Balikova, Yves Sznajer, Julie De Zaeytijd
Pages: 42 - 43 - Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease expands the molecular and phenotypic spectrum of recently identified iRD genes(2018)
Authors: Stijn Van de Sompele, Kristof Van Schil, Toon Rosseel, Sarah De Jaegere, Irina Balikova
Number of pages: 1 - Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation : rare novel disease genes and a multitude of novel variants in known disease genes(2018)
Authors: Kristof Van Schil, Sarah Naessens, Stijn Van de Sompele, Nuria Gruartmoner Roura, Katharina Dannhausen, Sarah De Jaegere, Maxim Vanpanteghem, Marcus Karlstetter, Bryan Tsou, Thomas Langmann, et al.
Number of pages: 1 - arrEYE : a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs(2017)
Authors: Kristof Van Schil, Miriam Bauwens, Sarah De Jaegere, Wouter Steyaert, Tom Sante
Pages: 457 - 466 - Mutations in splicing factor genes are a major cause of autosomal dominant retinitis pigmentosa in Belgian families(2017)
Authors: Dimitri Roels, Sarah De Jaegere, Helena Flipts, Julie De Zaeytijd, SOPHIE WALRAEDT, Charlotte Claes, Erik Fransen, Guy Van Camp, Fanny Depasse, Ingele Casteels, et al.