Publications by authors named "Louise Goujon"

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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, Louise Goujon

Nat Genet· June 2025

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Genetic landscape of pediatric acute liver failure of indeterminate origin.
Dominic Lenz, Lea D Schlieben, Masaru Shimura, Alyssa Bianzano, Dmitrii Smirnov, Louise Goujon

Hepatology· May 2024

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Expanding the phenotype of GTF2E2-associated trichothiodystrophy.
Brian Sperelakis-Beedham, Lyse Ruaud, Yoann Vial, Myriam Rachid, Faustine Ageorges, Louise Goujon

J Eur Acad Dermatol Venereol· March 2024

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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, , Louise Goujon

Mol Genet Genomic Med· January 2024

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Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management.
Camille Wicker, Charles-Joris Roux, Louise Goujon, Yvan de Feraudy, Marie Hully

Mol Genet Metab· November 2023

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Gene Editing Corrects a G > A Transition from a GM1 Gangliosidosis Patient.
Delphine Leclerc, Louise Goujon, Sylvie Jaillard, Bénédicte Nouyou, Laurence Cluzeau

CRISPR J· February 2023

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Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Virginie Carmignac, Cyril Mignot, Emmanuelle Blanchard, Paul Kuentz, Marie-Hélène Aubriot-Lorton, Louise Goujon

Genet Med· August 2021

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Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Virginie Carmignac, Cyril Mignot, Emmanuelle Blanchard, Paul Kuentz, Marie-Hélène Aubriot-Lorton, Louise Goujon

Genet Med· August 2021

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Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease.
Marisa W Friederich, Abdallah F Elias, Alice Kuster, Lucia Laugwitz, Austin A Larson, Louise Goujon

J Inherit Metab Dis· September 2020

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Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.
Artem Kim, Clara Savary, Christèle Dubourg, Wilfrid Carré, Charlotte Mouden, Louise Goujon

Brain· January 2019

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