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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 accès -
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 accès -
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
(Molecular Psychiatry. vol. 28, n° 2, pp. 668-697, 2023-02-01)Article de revueLibre accès -
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
(Nature Communications. vol. 13, n° 1, pp. 3939, 2022-07-08)Article de revueLibre accès -
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 accès