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Patrick Edery

Professor

Université Claude Bernard Lyon 1

France

Research Interests

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Professors in France Professors in Cell Biology Cell Biology professors in France

Articles (20)

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2026

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Collaborators (21)

Sugirthan Sivalingam

GERMANY

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Jana Pachlopnik Schmid

University of Zurich

SWITZERLAND

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Carmen Ayuso

SPAIN

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Paul Kuentz

Professeur des Universités-Praticien Hospitalier

Centre Hospitalier Universitaire Vaudois

FRANCE

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Tugce Balci

Assistant Professor

Western University

CANADA

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Sally Ann Lynch

IRELAND

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Florence Petit

Université de Lille

FRANCE

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Marion Delous

Université Claude Bernard Lyon 1

FRANCE

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Bekim Sadikovic

Western University

CANADA

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Victoria Siu

University of Western Ontario

CANADA

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Véronique Pingault

FRANCE

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Gael Nicolas

PUPH

University of Rouen

FRANCE

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James O'Sullivan

University of Manchester

UNITED KINGDOM

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Judith Mandl

Assistant Professor

McGill University

CANADA

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Robert Smigiel

prof.

Wroclaw Medical University

POLAND

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Massimiliano Rossi

Université Claude Bernard Lyon 1

FRANCE

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Rebecca Bromley

The University of Manchester

UNITED KINGDOM

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Morgane GOSSEZ

MCU-PH (Associate professor)

Hospices Civils de Lyon

FRANCE

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Andreas Tzschach

University Medical Center Freiburg

GERMANY

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Steffen Syrbe

Professor, Consultant Neuropediatrics and Pediatrics, Head of Division for Pediatric Epileptology

Heidelberg University

GERMANY

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Thomas Smol

FRANCE

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Patrick Edery

Research Interests

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Articles (20)

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

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)

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

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

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

Elastin turnover in Williams–Beuren and 7q11.23 microduplication syndromes

Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals

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

Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid

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

A TALS-like associated RTTN mutation impedes neural rosette formation in human cortical organoids

A Taybi-Linder syndrome-related <i>RTTN</i> variant impedes neural rosette formation in human cortical organoids

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

Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)

Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study

Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish

Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: a series of 20 unreported individuals.

Collaborators (21)

Sugirthan Sivalingam

Jana Pachlopnik Schmid

Carmen Ayuso

Paul Kuentz

Tugce Balci

Sally Ann Lynch

Florence Petit

Marion Delous

Bekim Sadikovic

Victoria Siu

Véronique Pingault

Gael Nicolas

James O'Sullivan

Judith Mandl

Robert Smigiel

Massimiliano Rossi

Rebecca Bromley

Morgane GOSSEZ

Andreas Tzschach

Steffen Syrbe

Thomas Smol

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