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European Journal of Human Genetics : EJHG|April 10, 2008
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expressionSuzanna Gerarda Maria Frints, Steffen Lenzner, Mareike Bauters, et al.European Journal of Human Genetics : EJHG|December 14, 2023
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative geneEleni Panagiotakaki, Francesco D Tiziano, Mohamad A Mikati, et al.The Journal of Pediatrics|March 13, 2017
Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual DisabilitySolveig Heide, Boris Keren, Thierry Billette de Villemeur, et al.European Journal of Human Genetics : EJHG|February 9, 2017
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndromeAngélique Quartier, Hélène Poquet, Brigitte Gilbert-Dussardier, et al.European Journal of Medical Genetics|July 21, 2015
From splitting GLUT1 deficiency syndromes to overlapping phenotypesMarie Hully, Sandrine Vuillaumier-Barrot, Christiane Le Bizec, et al.Orphanet Journal of Rare Diseases|December 14, 2012
Screening for primary creatine deficiencies in French patients with unexplained neurological symptomsDavid Cheillan, Marie Joncquel-Chevalier Curt, Gilbert Briand, et al.Molecular Genetics and Metabolism|October 5, 2013
Creatine and guanidinoacetate reference values in a French populationMarie Joncquel-Chevalier Curt, David Cheillan, Gilbert Briand, et al.Heart Rhythm|November 16, 2025
Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variantsAntoine Delinière, Chloé Mulatier, David Cheillan, et al.Nature Genetics|April 23, 2013
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephalyKarine Poirier, Nicolas Lebrun, Loic Broix, et al.Journal of Medical Genetics|November 1, 2022
New insights into <i>CC2D2A</i>-related Joubert syndromeMadeleine Harion, Leila Qebibo, Audrey Riquet, et al.Pageof 11