Patrick Edery

Service De Génétique Et Centre De Référence Maladies Rares Des Anomalies Du Développement CLAD Sud Est
Lyon, France

Last Updated: 09/26/2026

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Found 124 publications

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 01, 2025

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 01, 2025

Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome.

Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome.

Journal: Journal of medical genetics

Published: July 08, 2025

Trametinib for multiple non-ossifying fibromas due to KRAS mosaic mutations: two case reports.

Trametinib for multiple non-ossifying fibromas due to KRAS mosaic mutations: two case reports.

Journal: Communications medicine

Published: May 19, 2025

GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations.

GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations.

Journal: European journal of human genetics : EJHG

Published: December 11, 2024

Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.

Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.

Journal: Genome medicine

Published: December 11, 2024

Germline mutations in a G protein identify signaling cross-talk in T cells.

Germline mutations in a G protein identify signaling cross-talk in T cells.

Journal: Science (New York, N.Y.)

Published: September 19, 2024

A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoids.

A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoids.

Journal: PLoS genetics

Published: July 26, 2024

XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches.

XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches.

Journal: European journal of human genetics : EJHG

Published: June 24, 2024

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).

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).

Journal: American journal of medical genetics. Part A

Published: June 02, 2024

Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.

Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.

Journal: Journal of medical genetics

Published: April 02, 2024

B-cell immune deficiency in twin sisters expands the phenotype of MOPDI.

B-cell immune deficiency in twin sisters expands the phenotype of MOPDI.

Journal: Clinical genetics

Published: February 26, 2024

Showing 1-12 of 124

Last Updated: 09/26/2026