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Co-occurrence of oculocutaneous albinism type 2 and mild sickle cell disease explained by HbS/βthal genotype in an individual from the Democratic Republic of Congo.
(vol. 65, n° 10, pp. 104594, 2022-10-01)Article de revue -
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.
(American Journal of Medical Genetics Part A. vol. 188, n° 6, pp. 1667-1675, 2022-06-01)Article de revue -
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.
(vol. 129, n° 6, pp. 708-718, 2022-06-01)Article de revueLibre accès -
Publisher Correction: Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates.
(Nature Genetics. vol. 54, n° 6, pp. 906, 2022-06-01)Article de revue -
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 -
De novo variants in ATP2B1 lead to neurodevelopmental delay.
(American Journal of Human Genetics. vol. 109, n° 5, pp. 944-952, 2022-05-05)Article de revueLibre accès -
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.
(Human Mutation. vol. 43, n° 12, pp. 1882-1897, 2022-12-01)Article de revueLibre accès -
Lack of vaccination in ventilated patients for SARS-CoV-2 in France.
(Anaesthesia Critical Care & Pain Medicine. vol. 41, n° 2, pp. 101021, 2022-04-01)Article de revueLibre accès -
Meeting report of the 4th biennial Metabolism and Cancer symposium.
(FEBS Journal. vol. 289, n° 18, pp. 5516-5526, 2022-09-01)Article de revueLibre accès -
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