Juliette Piard

23PUBLICATIONS
188CO-AUTHORS
Developmental genetics (incl. sex determination)Neurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)Neurogenetics
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Publications (23)

|Oct 06, 2026
Diagnostic pathways in developmental disorders: a decade-apart comparison of two multicenter cohorts (2012-2022).

|Nov 10, 2025
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

Ghayda M Mirzaa, Keqin Yan, Raissa Relator

|Oct 14, 2025
GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy.

Johannes R Lemke, Andrea Eoli, Ilona Krey

|Sep 22, 2025
Further phenotypical delineation of DLG3-related neurodevelopmental disorders.

Marlène Malbos, Thierry Gautier, Amelle Shillington

|Jun 25, 2025
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Camille Engel, Michaela Rendek, Jessica Assoumani

|Nov 14, 2024
Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis.

Maud Favier, Elise Brischoux-Boucher, Louise C Pyle

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Frequent Collaborators

7 joint publications

Paul Kuentz

6 joint publications

Anne-Sophie Denommé-Pichon

5 joint publications

Antonio Vitobello

5 joint publications

Laurence Faivre