Academic Bibliography

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A next-generation sequencing approach targeting the highly repetitive ORF15 region of RPGR improves molecular diagnostics of X-linked retinitis pigmentosa

Annelies De Jaegher (UGent) , Sarah De Jaegere (UGent) , Toon Rosseel (UGent) , Steve Lefever (UGent) , Frauke Coppieters (UGent) , Kim De Leeneer (UGent) and Elfride De Baere (UGent)

(2017) European Human Genetics conference, Abstracts.
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Novel FRMD7 mutations and genomic rearrangement expand the molecular pathogenesis of X-linked idiopathic infantile nystagmus

Basamat Almoallem Mohammed (UGent) , Miriam Bauwens (UGent) , SOPHIE WALRAEDT (UGent) , Patricia Delbeke, Julie De Zaeytijd (UGent) , Philippe Kestelyn (UGent) , Françoise Meire, Sandra Janssens (UGent) , Caroline Van Cauwenbergh (UGent) , Hannah Verdin (UGent) , et al.

(2015) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 56(3). p.1701-1710
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Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice

Kim De Leeneer (UGent) , JAN HELLEMANS (UGent) , Wouter Steyaert (UGent) , Steve Lefever (UGent) , Inge Vereecke (UGent) , Eveline Debals (UGent) , Brecht Crombez (UGent) , Machteld Baetens (UGent) , Mattias Van Heetvelde (UGent) , Frauke Coppieters (UGent) , et al.

(2015) HUMAN MUTATION. 36(3). p.379-387
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Study of the regulatory landscape of SHOX in 503 LWD and ISS cases uncovers a key role of the upstream cis-regulatory element CNE-3

Hannah Verdin (UGent) , Ana Fernández-Miñán, Kim De Leeneer (UGent) , Liza Borms, Sandra Janssens (UGent) , Bert Callewaert (UGent) , Fransiska Malfait (UGent) , Ariana Kariminejad, Kathleen De Waele (UGent) , Inge François, et al.

(2014) Translational genetics : from cage over bench to bed.

Academic Bibliography

A next-generation sequencing approach targeting the highly repetitive ORF15 region of RPGR improves molecular diagnostics of X-linked retinitis pigmentosa

Novel FRMD7 mutations and genomic rearrangement expand the molecular pathogenesis of X-linked idiopathic infantile nystagmus

Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice

Study of the regulatory landscape of SHOX in 503 LWD and ISS cases uncovers a key role of the upstream cis-regulatory element CNE-3

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