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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 revueLibre acceso -
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 acceso -
Succinate anaplerosis has an onco-driving potential in prostate cancer cells
(Cancers. vol. 13, n° 7, 2021-04-06)Article de revueLibre acceso -
A multilayered approach to the analysis of genetic data from individuals with suspected albinism.
(Journal of Medical Genetics. vol. 60, n° 12, pp. 1245-1249, 2023-11-27)Article de revueLibre acceso -
CRISPR-Cas9 globin editing can induce megabase-scale copy-neutral losses of heterozygosity in hematopoietic cells
(Nature Communications. vol. 12, n° 1, 2021-08-13)Article de revueLibre acceso -
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)Article de revueLibre acceso -
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 acceso -
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 acceso -
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 acceso -
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 acceso