Bart Peter Leroy

17PUBLICATIONS
248CO-AUTHORS
Sensory systemsGene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseasesFoetal development and medicineGene mapping
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Publications (17)

|Jan 09, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|May 19, 2025
RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals.

Eline Van Vooren, Filip Van den Broeck, Quinten Mahieu

|Jan 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Sep 27, 2024
Gonadal Mosaicism as a Rare Inheritance Pattern in Recessive Genodermatoses: Report of Two Cases with Pseudoxanthoma Elasticum and Literature Review.

Lisa Dangreau, Mohammad J Hosen, Julie De Zaeytijd

|Jul 31, 2024
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.

Hélène Dollfus, Marc R Lilien, Pietro Maffei

|Jul 30, 2024
Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study.

Austin D Igelman, Elizabeth White, Alaa Tayyib

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Frequent Collaborators

7 joint publications

Elfride De Baere

6 joint publications

Julie De Zaeytijd

3 joint publications

Elise Héon

3 joint publications

Susanne Kohl