Onderzoeker
Sarah De Jaegere
- Disciplines:Pediatrie en neonatologie, Moleculaire en celbiologie, Systeembiologie, Verpleegkunde, Genetica
Affiliaties
- Vakgroep Pediatrie en genetica (Departement)
Lid
Vanaf15 sep 2005 → 13 mei 2014 - Vakgroep Oogheelkunde (Departement)
Lid
Vanaf15 sep 2003 → 14 sep 2005
Publicaties
1 - 10 van 23
- Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant(2021)
Auteurs: 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)
Auteurs: Giulia Ascari, Pietro Farinelli, Toon Rosseel, Nina Lambrechts, Kirsten A. Wunderlich, Matias Wagner, Konstantinos Nikopoulos, Pernille Martens, Irina Balikova, Lara Derycke, et al.
Pagina's: 998 - 1011 - Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy(2020)
Auteurs: Miriam Bauwens, Stephan Storch, Nicole Weisschuh, Chantal Ceuterick-de Groote, Brecht Guillemyn, Sarah De Jaegere, Rudy Van Coster
Pagina's: 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
Auteurs: Stijn Van de Sompele, Kristof Van Schil, Toon Rosseel, Sarah De Jaegere, Irina Balikova
Pagina's: 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)
Auteurs: Miriam Bauwens, Alejandro Garanto, Riccardo Sangermano, Sarah Naessens, Nicole Weisschuh, Julie De Zaeytijd, Mubeen Khan, Françoise Sadler, Irina Balikova, Toon Rosseel, et al.
Pagina's: 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
Auteurs: Miriam Bauwens, Sarah Naessens, Sarah De Jaegere, Irina Balikova, Yves Sznajer, Julie De Zaeytijd
Pagina's: 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)
Auteurs: Stijn Van de Sompele, Kristof Van Schil, Toon Rosseel, Sarah De Jaegere, Irina Balikova
Aantal pagina's: 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)
Auteurs: 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.
Aantal pagina's: 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)
Auteurs: Kristof Van Schil, Miriam Bauwens, Sarah De Jaegere, Wouter Steyaert, Tom Sante
Pagina's: 457 - 466 - Mutations in splicing factor genes are a major cause of autosomal dominant retinitis pigmentosa in Belgian families(2017)
Auteurs: 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.