Recherche
-
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 -
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 -
Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease.
(Journal of Medical Genetics. vol. 59, n° 5, pp. 417-427, 2022-05-01)Article de revue -
Understanding the challenges, unmet needs, and expectations of mucopolysaccharidoses I, II and VI patients and their caregivers in France: a survey study.
(Orphanet Journal of Rare Diseases. vol. 17, n° 1, pp. 448-460, 2022-12-23)Article de revueLibre accès -
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder.
(Nature Communications. vol. 13, n° 1, pp. 7002, 2022-11-16)Article de revueLibre accès -
The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience.
(European Journal of Human Genetics. vol. 30, n° 7, pp. 841-847, 2022-07-01)Article de revue -
HRAS germline mutations impair LKB1/AMPK signaling and mitochondrial homeostasis in Costello syndrome models.
(The Journal of clinical investigation. vol. 132, n° 8, 2022-04-15)Article de revueLibre accès -
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt.
(European Journal of Human Genetics. vol. 30, n° 6, pp. 682-686, 2022-06-01)Article de revue