Publications by authors named "J Coursimault"

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Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport.
Mukhtar Ullah, Atta Ur Rehman, Madhur Shetty, Michael D Allen, Ehsan Ullah, Juliette Coursimault

JAMA Ophthalmol· December 2025

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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Juliette Coursimault

Am J Hum Genet· November 2025

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Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Caroline Nava, Benjamin Cogne, Amandine Santini, Elsa Leitão, François Lecoquierre, Juliette Coursimault

Nat Genet· June 2025

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Assessment of the transcriptomic consequences and MAU2 protein levels in edited induced pluripotent stem cells with pathogenic variants.
Kévin Cassinari, Anne Rovelet-Lecrux, Céline Derambure, Myriam Vezain, Sophie Coutant, Juliette Coursimault

Genes Dis· May 2025

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Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Valentin Ruault, Pauline Burger, Johanna Gradels-Hauguel, Nathalie Ruiz, , Juliette Coursimault

Mol Genet Genomic Med· January 2024

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