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The Mouse Model to Unravel Retinogenesis Misregulation in Patients with Albinism.
(Genes. vol. 13, n° 7, pp. 1164, 2022-06-27)Article de revueOpen access -
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 -
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
(Molecular Psychiatry. vol. 28, n° 2, pp. 668-697, 2023-02-01)Article de revueOpen access -
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism.
(EBioMedicine. vol. 81, pp. 104130, 2022-07-01)Article de revueOpen access -
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism.
(Pigment Cell & Melanoma research, 2023-08-31)Article de revueOpen access -
A multilayered approach to the analysis of genetic data from individuals with suspected albinism.
(Journal of Medical Genetics. vol. 60, n° 12, pp. 1245-1249, 2023-11-27)Article de revueOpen access