Publications by authors named "P Edery"

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Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.
Salima El Chehadeh, Solveig Heide, Chloé Quélin, Marlène Rio, Henri Margot, Patrick Edery

Genome Med· October 2025

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XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches.
Silvestre Cuinat, Nicolas Chatron, Florence Petit, Perrine Brunelle, Etienne Dincuff, Patrick Edery

Eur J Hum Genet· July 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, Patrick Edery

Eur J Hum Genet· July 2025

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Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).
Mohammad-Reza Ghasemi, Sahand Tehrani Fateh, Afif Ben-Mahmoud, Vijay Gupta, Lara G Stühn, Patrick Edery

Am J Med Genet A· May 2025

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A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoids.
Justine Guguin, Ting-Yu Chen, Silvestre Cuinat, Alicia Besson, Eloïse Bertiaux, Patrick Edery

PLoS Genet· December 2024

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