Associated Papers
Advances in haplotype phasing and genotype imputation.
Sun Q et al.
Nature Reviews. Genetics, 2026
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
Genetic Features of Albinism: A Comprehensive Analysis in the Russian Population.
Ionova S et al.
Pigment Cell & Melanoma Research, 2026
Genome editing of a low-penetrance albinism-associated variant in TYR in patient-derived pluripotent stem cells.
Downton P et al.
Stem Cell Research, 2025
Multiplexed Assays of Variant Effect and Reclassification of TYR Variants in Chinese Patients with Oculocutaneous Albinism.
Lv S et al.
The Journal of Investigative Dermatology, 2025
Whole-Genome Sequencing Reveals a Novel GATA2 Mutation in Lower-Grade Glioma: Bioinformatics Analysis of Functional and Therapeutic Implications.
Handoko et al.
Cancers, 2025
Genetic Association of TYR rs7129973 With Vitiligo Vulgaris in Mexicans.
Salinas-Santander MA et al.
Actas Dermo-sifiliograficas, 2025
Genetic Diagnosis of Oculocutaneous Albinism Type 1A: A Novel TYR Variant.
Shihab RN et al.
Clinical Case Reports, 2025
Oculocutaneous albinism type 1B associated with allelic combination of a risk haplotype.
Nagy N et al.
Journal of Dermatological Science, 2025
Couple-Based Carrier Screening: How Gene and Variant Considerations Impact Outcomes.
Lee E et al.
Genes, 2025
Polygenic Risk Score Analysis of 37 SNPs Associated with Melanoma Risk in Colombian Population.
Tovar-Parra D et al.
International Journal of Molecular Sciences, 2025
Clinical Spectrum and Molecular Characteristics of Inherited Ocular Diseases in a Cohort of Pediatric Patients With Infantile Nystagmus Syndrome.
Gong X et al.
Investigative Ophthalmology & Visual Science, 2025
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
Human recombinant tyrosinase destabilization caused by the double mutation R217Q/R402Q.
Toay S et al.
Protein Science : a Publication of the Protein Society, 2025
Association of Genetic Polymorphisms in SLC45A2, TYR, HERC2, and SLC24A in African Women with Melasma: A Pilot Study.
Mpofana N et al.
International Journal of Molecular Sciences, 2025
Simultaneous Genotyping of Three Nonsynonymous SNVs, rs1042602, rs1426654, and rs16891982 Involved in Skin Pigmentation by Fluorescent Probe-Based Melting Curve Analysis.
Soejima M et al.
Human Mutation, 2025
Exome Sequencing of a Type 1 Diabetes Mellitus Family Exposes Both Common and Individualized Rare Variants Contributing to Pathogenesis.
Ibrahim TAM et al.
Journal of Diabetes Research, 2025
Uncovering the molecular mechanisms of amelanotic/hypopigmented primary cutaneous melanoma.
Sturm RA et al.
The British Journal of Dermatology, 2024
Genetic Characteristics of Cutaneous, Acral, and Mucosal Melanoma in Japan.
Hida T et al.
Cancer Medicine, 2024
Common Variants in the TYR Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients.
Shchagina O et al.
Biomedicines, 2024
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
Green DJ et al.
Nature Communications, 2024
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
Skin pigmentation related variants in Mexican population and interaction effects on serum 25(OH)D concentration and vitamin D deficiency.
Rivera-Paredez B et al.
Scientific Reports, 2024
Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights.
Bacci GM et al.
Scientific Reports, 2024
After an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report.
Serrano-González J et al.
Molecular Genetics & Genomic Medicine, 2024
Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort.
Maggi J et al.
International Journal of Molecular Sciences, 2024
Skin colour: A window into human phenotypic evolution and environmental adaptation.
Liu J et al.
Molecular Ecology, 2024
The prevalence of autism among children with albinism.
Gunz S et al.
European Journal of Ophthalmology, 2024
ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.
Enyedi EE et al.
Biomedicines, 2024
Quantitative Foveal Structural Metrics as Predictors of Visual Acuity in Human Albinism.
Woertz EN et al.
Investigative Ophthalmology & Visual Science, 2024
A multilayered approach to the analysis of genetic data from individuals with suspected albinism.
Sergouniotis PI et al.
Journal of Medical Genetics, 2023
Abnormal foveal morphology in carriers of oculocutaneous albinism.
Kuht HJ et al.
The British Journal of Ophthalmology, 2023
Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B.
Loftus SK et al.
American Journal of Human Genetics, 2023
Native American genetic ancestry and pigmentation allele contributions to skin color in a Caribbean population.
Ang KC et al.
Elife, 2023
Additional predictions for forensic DNA phenotyping of externally visible characteristics using the ForenSeq and Imagen kits.
Elkins KM et al.
Journal of Forensic Sciences, 2023
Association of TYR SNP rs1042602 with Melanoma Risk and Prognosis.
Sevilla A et al.
Life (basel, Switzerland), 2022
Foveal hypoplasia in parents of patients with albinism.
Lejoyeux R et al.
Ophthalmic Genetics, 2022
Generation of a human induced pluripotent stem cell line carrying the TYR c.575C>A (p.Ser192Tyr) and c.1205G>A (p.Arg402Gln) variants in homozygous state using CRISPR-Cas9 genome editing.
Liu J et al.
Stem Cell Research, 2022
Expanding the Spectrum of Oculocutaneous Albinism: Does Isolated Foveal Hypoplasia Really Exist?
Rocca C et al.
International Journal of Molecular Sciences, 2022
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
Michaud V et al.
Nature Communications, 2022