Julie De Zaeytijd

Journal Article
A1
open access

REACT-PXE : a consensus on diagnosis and future research concerning pseudoxanthoma elasticum (PXE)

L. Martin, W. Spiering, Karolien Aelbrecht (UGent) , T. Aranyi, C. Duranton, N. Kiss, E. Letavernier, M. Medvecz, M. Pfau, P.I. Nevalainen, et al.

(2026) ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE. 153(1).

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Journal Article
A2
open access

ABCC6-related left ventricular papillary muscle calcification

Lukas Nollet (UGent) , Ruben Pauwels, Julie De Zaeytijd (UGent) , Beatrijs Strubbe, Amélie Dendooven (UGent) and Olivier Vanakker (UGent)

(2025) JACC : CASE REPORTS. 30(35).

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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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Journal Article
A1
open access

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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Journal Article
A1
open access

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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Journal Article
A1
open access

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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Journal Article
A1
open access

Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort

Lieselot Vincke (UGent) , Kristof Van Schil, Hamid Ahmadieh, Afrooz Moghaddasi, Hamideh Sabbaghi, Narsis Daftarian, Tahmineh Motevasseli, Leila Javanparast Sheykhani, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, et al.

(2025) NPJ GENOMIC MEDICINE. 10(1).

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Journal Article
A1
open access

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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Phenotyping vestibulocochlear manifestations in Susac syndrome : a cohort study

Astrid Roelens (UGent) , Maria Vandekerckhove, Leen Maes (UGent) , Cathérine Dekeyser (UGent) , Dimitri Hemelsoet (UGent) , Veroniek Van Driessche (UGent) , Marijke Miatton (UGent) , Liesbeth Van Hijfte, Julie De Zaeytijd (UGent) , Tineke Van Vrekhem (UGent) , et al.

(2025) EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY. 282(3). p.1189-1200

Academic Bibliography

Julie De Zaeytijd

REACT-PXE : a consensus on diagnosis and future research concerning pseudoxanthoma elasticum (PXE)

ABCC6-related left ventricular papillary muscle calcification

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

Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort

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

Phenotyping vestibulocochlear manifestations in Susac syndrome : a cohort study

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REACT-PXE : a consensus on diagnosis and future research concerning pseudoxanthoma elasticum (PXE)

ABCC6-related left ventricular papillary muscle calcification

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

Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort

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

Phenotyping vestibulocochlear manifestations in Susac syndrome : a cohort study

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)