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De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability
Document de travail - Pré-publicationOpen access -
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 revueOpen access -
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 revueOpen access -
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
(European Journal of Human Genetics, 2021-06-01)Article de revueOpen access -
Biochemical consequences of two clinically relevant ND-gene mutations in Escherichia coli respiratory complex I
(Scientific Reports. vol. 11, n° 1, 2021-06-16)Article de revueOpen access -
CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease
(European Journal of Medical Genetics. vol. 64, n° 4, 2021-04)Article de revue -
A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum
(Human Genetics. vol. 140, n° 6, pp. 933-944, 2021)Article de revue -
Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis (European Journal of Human Genetics, (2021), 29, 9, (1359-1368), 10.1038/s41431-021-00900-2)
(European Journal of Human Genetics. vol. 29, n° 9, pp. 1470-1471, 2021-07-15)Article de revue -
Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia
(BMC Neurology. vol. 22, n° 1, pp. 53, 2022-02-12)Article de revueOpen access -
Severe Thoracic and Spinal Bone Abnormalities in neurofibromatosis type 1
(European Journal of Medical Genetics. vol. 63, n° 4, pp. 103815, 2020)Article de revue