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ARVO Annual Meeting Abstract June 2024

Enhancing Variant Curation Guidelines to Optimize Clinical Genetic Testing for ABCA4 Retinopathies Utilizing the ClinGen Framework

Kristy Lee; Amber Waddell; C. Blair Compton; Stéphanie S. Cornelis; Amy Dameron; Marieke De Bruyne; Miriam Bauwens; Mathieu Quinodoz; Eva Lenassi; Robyn Jamieson; Claire-Marie Dhaenhens; Andrea L Vincent; Abby T Fahim; Frans Cremers; Elfride De Baere; Robert Hufnagel

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):452.

ARVO Annual Meeting Abstract June 2024

A novel RPE65 -related dominant retinopathy caused by founder variant c.1555G>A p.(Glu519Lys) enriched in Belgian patients with a recognizable pattern dystrophy spectrum

Eline Van Vooren; Filip Van Den Broeck; Marieke De Bruyne; Quinten Mahieu; Sheetal Uppal; Eugenia Poliakov; T. Michael Redmond; Julie De Zaeytijd; Bart Peter Leroy; Miriam Bauwens; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):1517.

ARVO Annual Meeting Abstract June 2024

A multi-omics approach increases the diagnostic yield ‘beyond the exome’ in unsolved patients with inherited eye diseases

Miriam Bauwens; Marta Del Pozo Valero; Marieke De Bruyne; Filip Van Den Broeck; Quinten Mahieu; Stijn Van de Sompele; Audrey Meunier; Thomy De Ravel; Joke Ruys; Mattias Van Heetvelde; Irina Balikova; Sascha Vermeer; Julie De Zaeytijd; Bart Peter Leroy; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4939.

ARVO Annual Meeting Abstract June 2024

Phenotypic Variability and Evolution of MFSD8 -related Retinal Disease

Manon Van Haute; Evangelia S. Panagiotou; Filip Van Den Broeck; Hwei Wuen Chan; Marieke De Bruyne; Sophie Walraedt; Miriam Bauwens; Elfride De Baere; Bart Peter Leroy

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):6031.

ARVO Annual Meeting Abstract June 2023

Whole genome sequencing delineates novel non-coding variants and candidate genes in inherited retinal diseases

Marta Del Pozo Valero; Miriam Bauwens; Marieke De Bruyne; Filip Van den Broeck; Stephanie Dulst; Quinten Quinten; Audrey Meunier; Thomy de Ravel; Joke Ruys; Mattias Van Heetvelde; Irina Balikova; Sascha Vermeer; Julie De Zaeytijd; Bart Peter Leroy; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):2852.

ARVO Annual Meeting Abstract June 2023

A systematic approach to characterize the contribution of 5’UTR variation to inherited retinal disease

Alfredo Dueñas Rey; Manon Bouckaert; Marta Del Pozo Valero; Marieke De Bruyne; Mattias Van Heetvelde; Jamie Ellingford; Gavin Arno; Andrew R Webster; Carmen Ayuso; Carlo Rivolta; Bart Peter Leroy; Miriam Bauwens; Julie De Zaeytijd; Elfride De Baere; Frauke Coppieters

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):2851.

ARVO Annual Meeting Abstract June 2022

High myopia and vitreal veils in a patient with Poretti-Boltshauser syndrome due to a novel homozygous LAMA1 mutation

Irina Balikova; Nawid Faizi; Paul Coucke; Marieke De Bruyne; Elfride De Baere; Ingele Casteels

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):493 – A0070.

ARVO Annual Meeting Abstract June 2022

Deciphering the genetic architecture of inherited retinal diseases (IRD) in the Iranian population by integrated exome sequencing

Miriam Bauwens; Kristof Van Schil; Marieke De Bruyne; Mattias Van Heetvelde; Quinten Mahieu; Toon Rosseel; Ebrahim Al-Hajj; Sarah Van Malderen; Reza Maroofian; Fatemeh Suri; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):143 – A0323.

ARVO Annual Meeting Abstract June 2021

Long-read sequencing to unravel complex structural variants of CEP78 leading to Cone-Rod Dystrophy and Hearing Loss

Giulia Ascari; Nanna D. Rendtorff; Marieke De Bruyne; Julie De Zaeytijd; Michel Van Lint; Mattias Van Heetvelde; Alfredo Dueñas Rey; Gavin Arno; Julie Jacob; David Creytens; Jo Van Dorpe; Björn Menten; Mojca Strazisar; Mette Bertelsen; Lisbeth Tranebjærg; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1520.

ARVO Annual Meeting Abstract April 2014

Partial NMNAT1 deletions cause Leber Congenital Amaurosis

Frauke Coppieters; Takuro Fujimaki; Marieke De Bruyne; Annelot Baert; Mineo Kondo; Akira Murakami; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3285.

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