João Pedro Marques

46PUBLICATIONS
71CO-AUTHORS
Paediatrics not elsewhere classifiedEpigenetics (incl. genome methylation and epigenomics)Developmental genetics (incl. sex determination)Vision scienceOptical technology
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Publications (46)

|Jul 31, 2026
PAX6-associated aniridia and RPGR-related X-linked retinitis pigmentosa: a rare dual Mendelian molecular diagnosis.

|Jul 28, 2026
Clinical and Genetic Landscape of RPGR-Associated Retinal Dystrophies in Portugal: Insights From the Nationwide IRD-PT Registry.

|Jun 19, 2026
Inherited retinal disease genes with dual inheritance patterns: insights from the IRD-PT registry.

|May 27, 2026
Pigmented paravenous retinochoroidal atrophy: a spectrum of phenotypes.

|May 18, 2026
PRPH2-associated retinal disease: dual inheritance and broad phenotypic spectrum in a Portuguese cohort.

|May 18, 2026
Outer retinal band segmentation in healthy subjects: comparative study between human grading and deep convolutional neural networks.

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Frequent Collaborators

9 joint publications

Rufino Silva

4 joint publications

Ana Marta

4 joint publications

Célia Azevedo Soares

4 joint publications

João Figueira