Recherche
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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 -
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 revueLibre accès -
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 revueLibre accès -
Mutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA).
(Biochimica et Biophysica Acta - Molecular Basis of Disease. vol. 1870, n° 1, pp. 166856, 2023-08-26)Article de revue -
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
(Clinical Genetics. vol. 104, n° 5, pp. 554-563, 2023-11-01)Article de revue -
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability
Document de travail - Pré-publicationLibre accès -
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
(American Journal of Medical Genetics Part A. vol. 191, n° 1, pp. 52-63, 2023-01-01)Article de revue -
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.
(Nature Genetics. vol. 54, n° 3, pp. 232-239, 2022-03-01)Article de revueLibre accès -
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
(Frontiers in Genetics. vol. 14, pp. 1099995, 2023-01-01)Article de revueLibre accès -
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
(Genetics in Medicine. vol. 25, n° 4, pp. 100018, 2023-04-01)Article de revueLibre accès