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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 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.

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