Filip Van Den Broeck

Alfredo Dueñas Rey (UGent) , Marta del Pozo Valero (UGent) , Manon Bouckaert (UGent) , Katherine A. Wood, Filip Van Den Broeck (UGent) , Malena Daich Varela, Huw B. Thomas, Mattias Van Heetvelde (UGent) , Marieke De Bruyne (UGent) , Stijn Van de Sompele (UGent) , et al.

(2024) GENOME MEDICINE. 16(1).

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Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction

Miriam Bauwens (UGent) , Elifnaz Celik, Dinah Zur, Siying Lin, Mathieu Quinodoz, Michel Michaelides, Andrew R Webster, Filip Van Den Broeck (UGent) , Bart Leroy (UGent) , Leah Rizel, et al.

(2024) AMERICAN JOURNAL OF HUMAN GENETICS. 111(2). p.393-402

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Journal Article
open access

Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series

Elisa Marziali, Filip Van Den Broeck (UGent) , Sara Bargiacchi, Pina Fortunato, Roberto Caputo, Andrea Sodi, Julie De Zaeytijd (UGent) , Vittoria Murro, Dario Pasquale Mucciolo, Dario Giorgio, et al.

(2023) OPHTHALMIC GENETICS. 44(2). p.152-162

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Conference Paper
C3
open access

Results of Belgian patients with RPE65-related inherited retinal dystrophy 6 months after treatment with voretigene neparvovec

Leen Hertens (UGent) , Caroline Van Cauwenbergh (UGent) , Filip Van Den Broeck (UGent) , Julie Sambaer (UGent) , Manon Van Haute (UGent) , Pieter Hertens (UGent) , Elfride De Baere (UGent) , Geraldine Accou (UGent) , Fanny Nerinckx (UGent) and Bart Leroy (UGent)

(2023) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. In Investigative Ophthalmology & Visual Science 64(8).

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Conference Paper
C3
open access

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

Marta del Pozo Valero (UGent) , Miriam Bauwens (UGent) , Marieke De Bruyne (UGent) , Filip Van Den Broeck (UGent) , Stephanie Dulst, Quinten Quinten, Audrey Meunier, Thomy de Ravel, Joke Ruys, Mattias Van Heetvelde (UGent) , et al.

(2023) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. In Investigative Ophthalmology & Visual Science 64(8).

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Conference Paper
C3
open access

Whole genome sequencing sheds light on the dark matter of the genome in patients with inherited retinal diseases

Miriam Bauwens (UGent) , Marta del Pozo Valero (UGent) , Marieke De Bruyne (UGent) , Filip Van Den Broeck (UGent) , Stephanie Dulst, Quinten Mahieu (UGent) , Audrey Meunier, Thomy de Ravel de l'Argentière, Joke Ruys, Mattias Van Heetvelde (UGent) , et al.

(2023) Belgian Society for Human Genetics (BeSHG) Annual Meeting 2023 : To DNA and beyond, Abstracts.

Academic Bibliography

Filip Van Den Broeck

Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy

A novel recurrent ARL3 variant c.209G>A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy

Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease

Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction

Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series

Results of Belgian patients with RPE65-related inherited retinal dystrophy 6 months after treatment with voretigene neparvovec

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

Whole genome sequencing sheds light on the dark matter of the genome in patients with inherited retinal diseases

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