Recherche
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A hexokinase isoenzyme switch in human liver cancer cells promotes lipogenesis and enhances innate immunity
(Communications Biology. vol. 4, n° 1, 2021-02-16)Article de revueLibre accès -
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
(European Journal of Human Genetics, 2023-10-23)Article de revueLibre accès -
Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease.
(Clinical Genetics. vol. 101, n° 4, pp. 390-402, 2022-04-01)Article de revueLibre accès -
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
(Prenatal Diagnosis. vol. 43, n° 6, pp. 734-745, 2023-03-06)Article de revueLibre accès -
Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease.
(Journal of Clinical Medicine. vol. 11, n° 5, pp. 1233, 2022-02-24)Article de revueLibre accès -
Combinatorial pathway disruption is a powerful approach to delineate metabolic impacts of endocrine disruptors.
(FEBS Letters. vol. 596, n° 24, pp. 3107-3123, 2022-12-01)Article de revueLibre accès -
The E3 ubiquitin ligase FBXL6 controls the quality of newly synthesized mitochondrial ribosomal proteins.
(Cell Reports. vol. 42, n° 6, pp. 112579, 2023-06-01)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 -
BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.
(Genetics in Medicine. vol. 22, n° 10, pp. 1613-1622, 2020-10-01)Article de revue -
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