Associated Papers
Keep an Eye on Next Generation Sequencing (NGS) Technology: Secondary Findings and Differential Diagnosis in Inherited Retinal Dystrophies (IRDs).
D'Esposito F et al.
Biomedicines, 2025
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
Green DJ et al.
Nature Communications, 2024
39349469 (PubMed )
Supplement: 41467_2024_52763_MOESM2_ESM.pdf
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
Michaud V et al.
Nature Communications, 2022
35803923 (PubMed )
Supplement: 41467_2022_31392_MOESM4_ESM.xlsx › Supplementary-Table_1
Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.
Michaud V et al.
Pigment Cell & Melanoma Research, 2017
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