Audrey Putoux

10PUBLICATIONS
97CO-AUTHORS
Neurology and neuromuscular diseasesEpidemiological methodsGenetic immunologyEpigenetics (incl. genome methylation and epigenomics)Molecular targets
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Publications (10)

|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
MPDZ 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