Koh-Ichi Nagata
15PUBLICATIONS
163CO-AUTHORS
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Publications (15)
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|Jan 28, 2026
De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder.Céline Jost, Tiffany Busa, Daniel Wegner
|Sep 22, 2025
Further phenotypical delineation of DLG3-related neurodevelopmental disorders.Marlène Malbos, Thierry Gautier, Amelle Shillington
|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
|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.Caroline Nava, Benjamin Cogne, Amandine Santini
|Apr 16, 2025
First Prenatal Case of Genotypically and Phenotypically Overlapping Double Molecular Diagnosis of Van den Ende-Gupta and 22q11.2 Deletion Syndromes.Caroline Racine, Aurore Garde, Olivia Martz
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Frequent Collaborators
10 joint publications
Laurence Faivre
8 joint publications
Ange-Line Bruel
7 joint publications
Anne-Sophie Denommé-Pichon
7 joint publications
Frédéric Tran-Mau-Them
6 joint publications
Antonio Vitobello
6 joint publications
Christel Thauvin-Robinet
5 joint publications
Christophe Philippe
4 joint publications
Marie Vincent
3 joint publications
Sébastien Moutton
3 joint publications
Mathilde Nizon