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Audrey Putoux

10PUBLICATIONS

97CO-AUTHORS

Neurology and neuromuscular diseasesEpidemiological methodsGenetic immunologyEpigenetics (incl. genome methylation and epigenomics)Molecular targets

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Publications (10)

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|Mar 26, 2026

DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.

Quentin Sabbagh, Camille Cenni, Sadegheh Haghshenas

|Jul 23, 2025

The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome-SHS.

Charlène Daval, Nicolas Meunier-Beillard, Eléonore Viora-Dupont

|Jun 26, 2025

<i>MPDZ</i> Pathogenic Variants Cause Obstructive Ventriculomegaly Related to Diencephalosynapsis and Third Ventricle Atresia.

Sara Cabet, Jean-François Ghersi-Egea, Suonavy Khung-Savatovsky

|Apr 04, 2025

Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features.

Christel Thauvin-Robinet, Aurore Garde, Maud Favier

|Mar 21, 2025

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

|Dec 23, 2023

Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.

Ralf A Husain, Xinfu Jiao, J Christopher Hennings

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Frequent Collaborators

3 joint publications

Gaetan Lesca

2 joint publications

Christophe Philippe

2 joint publications

Massimiliano Rossi

2 joint publications

Marie Vincent

2 joint publications

Caroline Racine

2 joint publications

Anne-Sophie Denomme-Pichon

2 joint publications

Christel Thauvin-Robinet

2 joint publications

Mathilde Nizon

2 joint publications

Ange-Line Bruel

2 joint publications

Nicolas Chatron

Frequent Collaborators

3 joint publications

Gaetan Lesca

2 joint publications

Christophe Philippe

2 joint publications

Massimiliano Rossi

2 joint publications

Marie Vincent

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