Associated Papers
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_MOESM4_ESM.xlsx › supp_data_1
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
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
Clinical albinism score, presence of nystagmus and optic nerves defects are correlated with visual outcome in patients with oculocutaneous albinism.
Dumitrescu AV et al.
Ophthalmic Genetics, 2021
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
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.
Stephen J et al.
Plos One, 2017
Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome.
Huizing M et al.
Platelets, 2007
Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.
Wei ML
Pigment Cell Research, 2006
Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.
Huizing M et al.
Traffic (copenhagen, Denmark), 2004
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