• <em>GPR143</em> mutations in an X-linked infantile nystagmus syndrome cohort in Southeast China
• 2023 Prentice Medal Award lecture: Ocular surface-related symptoms of discomfort and other stories
• A case for the inclusion of oculocutaneous albinism as a skin-related Neglected Tropical Disease
• A case of metastasis of giant basal cell carcinoma in oculocutaneous albinism
• A patient with albinism and retinitis pigmentosa, a case report
• A practical classification scale for the dermatology management of individuals with skin of color: the colorimetric scale for skin of color
• A turn-on fluorescence probe for imaging tyrosinase at the wound site in broken tail of zebrafish
• Accelerated phase development in a late-onset adolescent Chediak-Higashi syndrome patient caused by compound novel LYST mutations in the setting of SARS-CoV-2 infection
• After an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report
• Aland Island Eye Disease with Retinoschisis in the Clinical Spectrum of <em>CACNA1F</em>-Associated Retinopathy-A Case Report
• Albinism and Primary Immunodeficiency in Infants: A Case Study of Griscelli Syndrome
• Aleutian disease: Risk factors and ImmunAD strategy for genetic improvement of tolerance in American mink (Neogale vison)
• Amelanotic melanoma in oculocutaneous albinism type 4 detected using violet-light dermoscopy
• Amino acids and flavonoids analysis reveals quality constituents difference among different albino tea resources
• An electrochemical point-of-care testing device for specific diagnosis of the albinism biomarker based on paradigm shift designs
• Analysis of Lipoprotein Signaling in Iris Melanocytes
• Apparently X-linked Foveal Hypoplasia of Two Brothers: A Report of a Rare Case
• Biogenesis of lysosome-related organelles complex-2 is an evolutionarily ancient proto-coatomer complex
• BMP-2 regulates the expression of myosin Va via smad in melan-a melanocyte
• BOLD Contrast Response Characteristics of Aberrant Voxels with Bilateral Visual Population Receptive Fields in Human Albinism
• Bonface Massah: changemaker and defender for children with albinism
• Breeding pairs with color aberrations in oriental reed warblers
• Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre
• Case series: Fundus autofluorescence abnormalities in a family of ocular albinism carriers
• Cataract surgery and artificial iris implantation in patient with oculocutaneous albinism: a case report
• Chromosome-level genome assembly of the glass catfish ( <em>Kryptopterus vitreolus</em>) reveals molecular clues to its transparent phenotype
• Clinical and mutational characteristics of oculocutaneous albinism type 7
• Comment on "low-vision intervention for oculocutaneous albinism in a tertiary eye care hospital in India"
• Comment on: Photosensitivity and filter efficacy in albinism
• Comparative outcomes of autologous cultured melanocytes transplantation and non-cultured epidermal cell suspension transplantation in piebaldism patients: A retrospective study
• Correlation between refraction and axial length in Albinos
• Crowding under scotopic and photopic vision in albino and normal-sighted participants
• Decreased CREB phosphorylation impairs embryonic retinal neurogenesis in the Oa1-/- mouse model of Ocular albinism
• Differential expression and alternative splicing analyses of multiple tissues reveal albinism-associated genes in the Wels catfish (Silurus glanis)
• Diverse amdoparvoviruses infection of farmed Asian badgers (Meles meles)
• Effect of nystagmus on VEP-based objective visual acuity estimates
• ERG Responses in Albinism, Idiopathic Infantile Nystagmus, and Controls
• First Co-Occurrence of Griscelli Syndrome Type 2 and Neurofibromatosis Type 1
• First report of albinism for Achalinussheni (Serpentes, Xenodermidae), with extended diagnosis of the species
• From darkness to discovery: evolutionary, adaptive, and translational genetic insights from cavefish
• Functional analysis of two mutation sites in the OCA2 gene
• Generation and characterization of retinal pigment epithelium from patient iPSC line to model oculocutaneous albinism (OCA)1A disease
• Genetic analysis of albinism caused by compound heterozygous mutations of the OCA2 gene in a Chinese family
• Genetic insights into Tietz albinism-deafness syndrome: A new dominant-negative mutation in MITF
• Genetic Linkage between CAPN5 and TYR Variants in the Context of Albinism and Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Absence: A Case Report
• Genetic screening reveals hotspot variants and prevalence rates of Hermansky-Pudlak syndrome in the Chinese population
• Genotype-Phenotype Correlation Model for the Spectrum of TYR-Associated Albinism
• Genotypic spectrum of albinism in Mali
• Hermansky-Pudlak Syndrome Type 2: A Case Report on an Ultra-Rare Disorder
• Hermansky-Pudlak Syndrome with an Improvement in the Respiratory Symptoms after the Administration of Pirfenidone: A Case Report
• Hermansky-Pudlak Syndrome: A Rare Congenital Disorder With Interstitial Lung Disease
• Identification of Candidate Genes for Red-Eyed (Albinism) Domestic Guppies Using Genomic and Transcriptomic Analyses
• Identifying genetic defects in oculocutaneous albinism patients of West Bengal, Eastern India
• l-DOPA receptor GPR143 inhibits neurite outgrowth via L-type calcium channels in PC12 cells
• Large lysosomes in Chédiak-Higashi syndrome
• Leaf variegation caused by plastome structural variation: an example from <em>Dianella tasmanica</em>
• Long-term observation of a piebald patient showing pigmentation within leukoderma
• Mapping a research-advocacy-policy agenda on human rights and albinism: a mixed methods project
• Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease
• Molecular Modeling of the Multiple-Substrate Activity of the Human Recombinant Intra-Melanosomal Domain of Tyrosinase and Its OCA1B-Related Mutant Variant P406L
• Multi-Omics Research Accelerates the Clarification of the Formation Mechanism and the Influence of Leaf Color Variation in Tea (<em>Camellia sinensis</em>) Plants
• Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights
• Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis
• Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
• Mutations in the albinism gene oca2 alter vision-dependent prey capture behavior in the Mexican tetra
• Novel Arena of Nanocosmetics: Applications and their Remarkable Contribution in the Management of Dermal Disorders, Topical Delivery, Future Trends and Challenges
• Novel Germline KIT Variants in Families With Severe Piebaldism: Case Series and Literature Review
• Nystagmus and Foveal Hypoplasia in a Carrier of Oculocutaneous Albinism
• Nystagmus in the B6(CG)Tyr(c-2J)/J Albino Mouse: A Functional and RNA-Seq Analysis
• Ocular Albinism with Unilateral Retinochoroidal Coloboma and Retinal Detachment
• Oculocutaneous albinism type 4: Novel compound heterozygous mutations in the SLC45A2 gene in a Chinese case
• Opposite regulation by L-DOPA receptor GPR143 of the long and short forms of the dopamine D2 receptors
• Optimization of nutrient management improves productivity, quality and sustainability of albino tea cultivar Baiye-1
• Phenotypic Features Determining Visual Acuity in Albinism and the Role of Amblyogenic Factors
• Phyto-cosmeceutical gel containing curcumin and quercetin loaded mixed micelles for improved anti-oxidant and photoprotective activity
• Plasticity mechanisms of genetically distinct Purkinje cells
• Plastid dynamism integrates development and environment
• Pre-Medications for Non-Emergency Tracheal Intubation in the United States Neonatal Intensive Care Units
• Presentation, Clinical Outcome, and Quality of Life of Patients Treated for Head and Neck Skin Cancer at the University College Hospital, Ibadan
• Pseudo-Chédiak-Higashi inclusions in a low-grade lymphoid neoplasm
• Quantitative Foveal Structural Metrics as Predictors of Visual Acuity in Human Albinism
• Reduced myeloid commitment and increased uptake by macrophages of stem cell-derived HPS2 neutrophils
• Reply to letter to editor: Low-vision intervention for oculocutaneous albinism in a tertiary eye care hospital in India
• RPE melanin and its influence on the progression of AMD
• Runs of Homozygosity Detection and Selection Signature Analysis for Local Goat Breeds in Yunnan, China
• Securing health and wellbeing for children with albinism
• Skin Hypopigmentation in Hematology Disorders
• Sodium fluorescein dye as an adjunct in vitrectomy for rhegmatogenous retinal detachment in oculocutaneous albinism
• Strong selection signatures for Aleutian disease tolerance acting on novel candidate genes linked to immune and cellular responses in American mink (Neogale vison)
• Successful treatment of retinopathy of prematurity in oculocutaneous albinism with OCA2 variants: a case report and review of literature
• Temporal-to-Nasal Macular Ganglion Cell and Inner Plexiform Layer Ratios in a Large Adult Twin Cohort: Correlations With Age and Heritability
• The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism
• The lysosomal trafficking regulator "LYST": an 80-year traffic jam
• Transcriptomic analysis of hub genes regulating albinism in light- and temperature-sensitive albino tea cultivars 'Zhonghuang 1' and 'Zhonghuang 2'
• Two-pore channel 2 is required for soluble adenylyl cyclase-dependent regulation of melanosomal pH and melanin synthesis
• Uncovering molecular mechanisms for amelanotic/hypopigmented primary cutaneous melanoma
• Unsuccessful transscleral cyclophotocoagulation in oculocutaneous albinism
• Visual acuity improvement in children with albinism beyond the first decade of life
• Visual Field Deficits in Albinism in Comparison to Idiopathic Infantile Nystagmus
• What Have We Learned about the Prevention of NMSC from Albino Patients from Malawi? Secondary Prevention Maintained over Time