Koh-Ichi Nagata

15PUBLICATIONS
163CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseasesEpidemiological methodsMedical biotechnology diagnostics (incl. biosensors)Epigenetics (incl. genome methylation and epigenomics)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (15)

|May 28, 2026
Novel Postzygotic Variants Associated With Hypomelanosis of Ito Expand the ACTB-Related Neurocutaneous Disease Spectrum.

|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

Pageof 3

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