Filip Van Den Broeck

Miscellaneous

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals

Eline Van Vooren (UGent) , Filip Van Den Broeck (UGent) , Quinten Mahieu (UGent) , Eline Geens (UGent) , Mattias Van Heetvelde (UGent) , Marieke De Bruyne (UGent) , Stijn Van de Sompele (UGent) , Sheetal Uppal, Eugenia Poliakov, Claire-Marie Dhaenens, et al.

(2025) Research Square.

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Generation and characterization of three human induced pluripotent stem cell lines (UGENTi005, UGENTi006 and UGENTi007) from patients with autosomal dominant adult-onset maculopathy due to RPE65 variant c.1555G>A, p.(E519K)

Eline Van Vooren (UGent) , Filip Van Den Broeck (UGent) , Esperanza Daal (UGent) , Mehrnaz Ghazvini, Julie De Zaeytijd (UGent) , Bart Leroy (UGent) , Miriam Bauwens (UGent) and Elfride De Baere (UGent)

(2025) STEM CELL RESEARCH. 89.

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RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals

Eline Van Vooren (UGent) , Filip Van Den Broeck (UGent) , Quinten Mahieu (UGent) , Eline Geens (UGent) , Mattias Van Heetvelde (UGent) , Marieke De Bruyne (UGent) , Stijn Van de Sompele (UGent) , Sheetal Uppal, Eugenia Poliakov, Claire-Marie Dhaenens, et al.

(2025) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 66(12).

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Evaluation of a novel antisense oligonucleotide therapy targeting a 5’UTR variant in the RDH12 gene

Manon Bouckaert (UGent) , Kyana Van Acker (UGent) , Birthe Hilgen, Maria Georgiou, Filip Van Den Broeck (UGent) , Edith De Bruycker (UGent) , Alfredo Dueñas Rey, Emma Delanote (UGent) , Hanne Lenaerts (UGent) , Melita Kaltak, et al.

(2025) OTS Annual Meeting 2025, Abstracts.

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Generation of two iPSC lines (UGENTi003 and UGENTi004) from patients with intermediate rod-cone dystrophy carrying the c.[-123C>T;701G>A]; [806_810del] variants in the RDH12 gene

Manon Bouckaert (UGent) , Filip Van Den Broeck (UGent) , M. Ghazvini, Alfredo Dueñas Rey, Hanne Lenaerts (UGent) , Annelies Dheedene (UGent) , Kathleen Claes (UGent) , Elfride De Baere (UGent) , Bart Leroy (UGent) , Julie De Zaeytijd (UGent) , et al.

(2025) STEM CELL RESEARCH. 86.

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

Austin D. Igelman, Elizabeth White, Alaa Tayyib, Lesley Everett, Ajoy Vincent, Elise Heon, Christina Zeitz, Michel Michaelides, Omar A. Mahroo, Mohamed Katta, et al.

(2025) BRITISH JOURNAL OF OPHTHALMOLOGY. 109(2). p.286-292

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

Karolina Kaminska, Francesca Cancellieri, Mathieu Quinodoz, Abigail R. Moye, Miriam Bauwens (UGent) , Siying Lin, Lucas Janeschitz-Kriegl, Tamar Hayman, Pilar Barberán-Martínez, Regina Schlaeger, et al.

(2025) AMERICAN JOURNAL OF HUMAN GENETICS. 112(4). p.808-828

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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

Julio C Corral-Serrano, Veronika Vaclavik, Stijn Van de Sompele (UGent) , Karolina Kaminska, Katarina Jovanovic, Pascal Escher, Filip Van Den Broeck (UGent) , Francesca Cancellieri, Vasileios Toulis, Bart Leroy (UGent) , et al.

(2025) HUMAN MOLECULAR GENETICS. 34(9). p.821-834

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Evaluation of a novel antisense oligonucleotide therapy targeting a 5’UTR mutation in the RDH12 gene

Manon Bouckaert (UGent) , Kyana Van Acker (UGent) , Birthe Hilgen, Maria Georgiou, Filip Van Den Broeck (UGent) , Margot De Moor, Edith De Bruycker (UGent) , Alfredo Dueñas Rey, Emma Delanote (UGent) , Hanne Lenaerts (UGent) , et al.

(2024) 3rd Dutch Antisense Therapeutics Symposium, Abstracts.

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Evaluation of a novel antisense oligonucleotide therapy targeting a 5’UTR mutation in the RDH12 gene

Manon Bouckaert (UGent) , Kyana Van Acker (UGent) , Maria Georgiou, Filip Van Den Broeck (UGent) , Margot De Moor, Edith De Bruycker (UGent) , Alfredo Dueñas Rey, Emma Delanote (UGent) , Hanne Lenaerts (UGent) , Melita Kaltak, et al.

(2024) Belgian Society for Human Genetics (BeSHG) Annual Symposium 2024 : Single Cells : to care or not to care, Abstracts.

Academic Bibliography

Filip Van Den Broeck

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals

Generation and characterization of three human induced pluripotent stem cell lines (UGENTi005, UGENTi006 and UGENTi007) from patients with autosomal dominant adult-onset maculopathy due to RPE65 variant c.1555G>A, p.(E519K)

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals

Evaluation of a novel antisense oligonucleotide therapy targeting a 5’UTR variant in the RDH12 gene

Generation of two iPSC lines (UGENTi003 and UGENTi004) from patients with intermediate rod-cone dystrophy carrying the c.[-123C>T;701G>A]; [806_810del] variants in the RDH12 gene

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

Evaluation of a novel antisense oligonucleotide therapy targeting a 5’UTR mutation in the RDH12 gene

Evaluation of a novel antisense oligonucleotide therapy targeting a 5’UTR mutation in the RDH12 gene

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RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals

Generation and characterization of three human induced pluripotent stem cell lines (UGENTi005, UGENTi006 and UGENTi007) from patients with autosomal dominant adult-onset maculopathy due to RPE65 variant c.1555G&gt;A, p.(E519K)

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals

Evaluation of a novel antisense oligonucleotide therapy targeting a 5’UTR variant in the RDH12 gene

Generation of two iPSC lines (UGENTi003 and UGENTi004) from patients with intermediate rod-cone dystrophy carrying the c.[-123C>T;701G>A]; [806_810del] variants in the RDH12 gene

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

Evaluation of a novel antisense oligonucleotide therapy targeting a 5’UTR mutation in the RDH12 gene

Evaluation of a novel antisense oligonucleotide therapy targeting a 5’UTR mutation in the RDH12 gene

Generation and characterization of three human induced pluripotent stem cell lines (UGENTi005, UGENTi006 and UGENTi007) from patients with autosomal dominant adult-onset maculopathy due to RPE65 variant c.1555G>A, p.(E519K)