Associated Papers
Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations.
Okamura K et al.
The Journal of Dermatology, 2025
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.3
Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinism.
Arcot Sadagopan K et al.
Ophthalmic Genetics, 2023
Infantile nystagmus without overt eye abnormality: Early features and neuro-ophthalmological diagnosis.
Suppiej A et al.
Developmental Medicine and Child Neurology, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.
Liu T et al.
Nature Communications, 2022
35347147 (PubMed )
Supplement: 41467_2022_29336_MOESM8_ESM.xlsx › Sheet1
Two Novel Homozygous HPS6 Mutations (Double Mutant) Identified by Whole-Exome Sequencing in a Saudi Consanguineous Family Suspected for Oculocutaneous Albinism.
Karim S et al.
Life (basel, Switzerland), 2021
Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant.
Han CG et al.
American Journal of Medical Genetics. Part A, 2018
Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9.
Okamura K et al.
Pigment Cell & Melanoma Research, 2018
Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism.
Miyamichi D et al.
Journal of Human Genetics, 2016
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