Publications by authors named "N Chassaing"

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Insights Into the FOXE3 Transcriptional Network and Disease Mechanisms From the Investigation of a Regulatory Variant Driving Complex Microphthalmia.
Julie Plaisancié, Clémentine Angée, Elisa Erjavec, Isabelle Raymond-Letron, Jean-Yves Douet, Nicolas Chassaing

Invest Ophthalmol Vis Sci· August 2025

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GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations.
Solomon S Merepa, Linda M Reis, Alejandra Damián, Tanya Bardakjian, Adele Schneider, Nicolas Chassaing

Eur J Hum Genet· July 2025

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PIGO Gene Variants: New Insights Into Prenatal Diagnosis.
A Zambiasi, J Aziza, N Chassaing, M Lebrun, A Sartor

Prenat Diagn· July 2025

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Genetic screening of the RNA-binding protein RBM24 and its binding sites in the 3' untranslated region in a cohort of 50 patients with micro-anophthalmia.
Julien Noero, Mathys Weber, Nicolas Chassaing, Véronique Gaston, Julie Plaisancié

Ophthalmic Genet· June 2025

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Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans.
Vianney Cortés-González, Miguel Rodriguez-Morales, Paris Ataliotis, Claudine Mayer, Julie Plaisancié, Nicolas Chassaing

Hum Genet· December 2024

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