Recherche
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CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum
(Clinical Genetics. vol. 100, n° 4, pp. 468-477, 2021-07-01)Article de revue -
Dopachrome tautomerase variants in patients with oculocutaneous albinism
(Genetics in Medicine. vol. 23, n° 3, pp. 479-487, 2021)Article de revue -
Prenatal retinoic acid exposure reveals candidate genes for craniofacial disorders
(Scientific Reports. vol. 8, pp. 17 p., 2018)Article de revue -
Hemidystonia with polymicrogyria is part of ATP1A3-related disorders.
(Brain and Development. vol. 44, n° 8, pp. 567-570, 2022-09-01)Article de revue -
Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome
(Pigment Cell & Melanoma research. vol. 34, n° 1, pp. 132-135, 2021-01)Article de revue -
A comparative study of cognitive and socio-emotional development in children with Rubinstein-Taybi syndrome and children with Autism Spectrum Disorder associated with a severe intellectual disability, and in young typically developing children with matched developmental ages
(Research in Developmental Disabilities. vol. 116, pp. 104029, 2021-07-13)Article de revue -
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.
(American Journal of Human Genetics. vol. 110, n° 6, pp. 998-1007, 2023-06-01)Article de revue -
Lung Tumor Growth Promotion by Tobacco-Specific Nitrosamines Involves the β2-Adrenergic Receptors-Dependent Stimulation of Mitochondrial REDOX Signaling.
(Antioxidants and Redox Signaling. vol. 36, n° 7-9, pp. 525-549, 2022-03-01)Article de revue -
Aminoacylation-defective bi-allelic mutations in human EPRS1 associated with psychomotor developmental delay, epilepsy, and deafness.
(Clinical Genetics. vol. 103, n° 3, pp. 358-363, 2023-03-01)Article de revueLibre accès -
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability
Document de travail - Pré-publicationLibre accès