Juliette Piard
22PUBLICATIONS
179CO-AUTHORS
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Publications (22)
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|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
|Oct 25, 2024
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.Angela Peron, Felice D'Arco, Kimberly A Aldinger
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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
Jonathan Levy
4 joint publications
Michael Kruer
4 joint publications
Camille Engel
4 joint publications
Pasquale Striano
4 joint publications
Ghayda Mirzaa
4 joint publications
William Dobyns
4 joint publications
Ange-Line Bruel
