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ARVO Annual Meeting Abstract September 2016

Coding and non-coding copy number variations explaining unsolved retinal dystrophies: role of genomic architectural features and underlying mechanisms

Kristof Van Schil; Sarah Naessens; Stijn Van de Sompele; Miriam Bauwens; Hannah Verdin; Caroline Van Cauwenbergh; Anja Kathrin Mayer; Susanne Kohl; Bart Peter Leroy; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12) doi:

Genetics March 2015

Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus

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Basamat AlMoallem; Miriam Bauwens; Sophie Walraedt; Patricia Delbeke; Julie De Zaeytijd; Philippe Kestelyn; Françoise Meire; Sandra Janssens; Caroline van Cauwenbergh; Hannah Verdin; Sally Hooghe; Prasoon Kumar Thakur; Frauke Coppieters; Kim De Leeneer; Koenraad Devriendt; Bart P. Leroy; Elfride De Baere
TAGS: cohort studies, mutation, pathogenesis, pathologic nystagmus, screening, gene rearrangement, x-linked inheritance, massively-parallel genome sequencing
Invest. Ophthalmol. Vis. Sci.. 2015; 56(3):1701-1710. doi: https://doi.org/10.1167/iovs.14-15938

Includes: Supplemental Content

ARVO Annual Meeting Abstract April 2014

Homozygous deletion of glutamate receptor gene GRID2 causes new hotfoot mutant phenotype, characterized by early-onset cerebellar ataxia and retinal dystrophy

Kristof Van Schil; Marcus Karlstetter; Françoise Meire; Miriam Bauwens; Hannah Verdin; Frauke Coppieters; Eva Scheiffert; Nicolas Deconinck; Thomas Langmann; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):6425. doi:

ARVO Annual Meeting Abstract June 2013

Identification of Novel Homozygous Deletions in Consanguineous Pedigrees as a Shortcut to Candidate Gene Discovery in Retinal Dystrophies

Kristof Van Schil; Françoise Meire; Thomy de Ravel; Bart Leroy; Hannah Verdin; Frauke Coppieters; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):1309. doi:

ARVO Annual Meeting Abstract March 2012

Identity-by-Descent Mapping Reveals a New Locus for Primary Congenital Glaucoma, GLC3E, on Chromosome 19p13.2

Hannah Verdin; Bart P. Leroy; Barbara D'haene; Frauke Coppieters; Steve Lefever; Philippe G. Kestelyn; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):5289. doi:

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