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ARVO Annual Meeting Abstract June 2020

Targeted next-generation sequencing of the highly repetitive and purine-rich ORF15 region of RPGR, a hotspot for missing heritability in X-linked retinitis pigmentosa, a target for gene therapy

Miriam Bauwens; Annelies De Jaegher; Sarah De Jaegere; Steve Lefever; Frauke Coppieters; Bart Peter Leroy; Toon Rosseel; Kim De Leeneer; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2394. doi:

ARVO Annual Meeting Abstract July 2019

Whole exome sequencing-based copy number variant detection in inherited retinal disease

Frauke Coppieters; Stijn Van de Sompele; Kristof Van Schil; Thalia Van Laethem; Rani Six; Sarah De Jaegere; Francoise Meire; Meindert De Vries; Irina Balikova; Julie De Zaeytijd; Bart P Leroy; Toon Rosseel; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):385. doi:

ARVO Annual Meeting Abstract July 2018

Functional characterization of N-terminal TIMP3 mutation underlying Sorsby fundus dystrophy in Belgian and French pedigrees.

Sarah Naessens; Delfien Syx; Frank Peelman; Roosmarijn Vandenbroucke; Sarah De Jaegere; Frédéric Smeets; Julie De Zaeytijd; Bart P Leroy; Elfride De Baere; Frauke Coppieters

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5403. doi:

ARVO Annual Meeting Abstract July 2018

Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease expands the molecular and phenotypic spectrum of recently identified iRD genes

Frauke Coppieters; Stijn Van de Sompele; Kristof Van Schil; caroline Van Cauwenbergh; Toon Rosseel; Sarah De Jaegere; Thalia Van Laethem; Irina Balikova; Bart P Leroy; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5408. doi:

ARVO Annual Meeting Abstract June 2013

Regulatory mutations in the 5’UTR of NMNAT1 , encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis

Frauke Coppieters; Annelot Baert; Caroline Van Cauwenbergh; Miriam Bauwens; Sarah De Jaegere; Thomy de Ravel; Françoise Meire; Bart Leroy; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):1313. doi:

ARVO Annual Meeting Abstract June 2013

A dual approach for comprehensive genetic testing of ABCA4 in Stargardt disease

Miriam Bauwens; Caroline Van Cauwenbergh; Sarah De Jaegere; Steve Lefever; Barbara D'haene; Filip Pattyn; Bart Leroy; Elfride De Baere; Frauke Coppieters

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):3372. doi:

ARVO Annual Meeting Abstract June 2013

Exome Sequencing Identifies a Novel RP1 Mutation in a Belgian Family with Autosomal Dominant Retinitis Pigmentosa

Caroline Van Cauwenbergh; Frauke Coppieters; Sarah De Jaegere; Julie De Zaeytijd; Bart Leroy; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):3355. doi:

Biochemistry and Molecular Biology January 2011

Expanding the Spectrum of FOXC1 and PITX2 Mutations and Copy Number Changes in Patients with Anterior Segment Malformations

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Barbara D'haene; Françoise Meire; Ilse Claerhout; Hester Y. Kroes; Astrid Plomp; Yvonne H. Arens; Thomy de Ravel; Ingele Casteels; Sarah De Jaegere; Sally Hooghe; Wim Wuyts; Jenneke van den Ende; Françoise Roulez; Hermine E. Veenstra-Knol; Rogier A. Oldenburg; Jacques Giltay; Johanna B. G. M. Verheij; Jan-Tjeerd de Faber; Björn Menten; Anne De Paepe; Philippe Kestelyn; Bart P. Leroy; Elfride De Baere
TAGS: congenital abnormality, mutation, screening
Invest. Ophthalmol. Vis. Sci.. 2011; 52(1):324-333. doi: https://doi.org/10.1167/iovs.10-5309

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