Julian Delanne
8PUBLICATIONS
79CO-AUTHORS
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Publications (8)
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|Apr 09, 2026
Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.Amandine Santini, Angelo Tognon, Anne-Claire Richard
|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 25, 2025
Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS.Yordi-Michaël Bouhatous, Pauline Arnaud, Guillaume Jondeau
|Nov 27, 2024
Exploring the Cognitive and Behavioral Aspects of Shprintzen-Goldberg Syndrome; a Novel Cohort and Literature Review.Emilie Sjøstrøm, Ange-Line Bruel, Christophe Philippe
|Jan 30, 2024
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.Marlène Malbos, Emma Wakeling, Thierry Gautier
|Aug 16, 2023
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.Caroline Racine, Anne-Sophie Denommé-Pichon, Camille Engel
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Frequent Collaborators
6 joint publications
Ange-Line Bruel
6 joint publications
Laurence Faivre
3 joint publications
Anne-Sophie Denommé-Pichon
3 joint publications
Christophe Philippe
3 joint publications
Frédéric Tran-Mau-Them
3 joint publications
Aurore Garde
3 joint publications
Caroline Racine
2 joint publications
Patrick Callier
2 joint publications
Antonio Vitobello
2 joint publications
Sophie Nambot
