Associated Papers
Rare Germline Variants in CDKN2A-Negative Children and Adolescents With Cutaneous Melanoma.
Johansson PA et al.
Pigment Cell & Melanoma Research, 2026
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health 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
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
Green DJ et al.
Nature Communications, 2024
In Vivo Assessment of Retinal Phenotypes in Axenfeld-Rieger Syndrome.
Untaroiu A et al.
Investigative Ophthalmology & Visual Science, 2024
Quantitative Foveal Structural Metrics as Predictors of Visual Acuity in Human Albinism.
Woertz EN et al.
Investigative Ophthalmology & Visual Science, 2024
Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease.
Nagy N et al.
International Journal of Molecular Sciences, 2024
Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism.
Jiang B et al.
Molecular Genetics & Genomic Medicine, 2024
Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis.
Berger SI et al.
Clinical Genetics, 2023
Abnormal foveal morphology in carriers of oculocutaneous albinism.
Kuht HJ et al.
The British Journal of Ophthalmology, 2023
Structural insights into pink-eyed dilution protein (Oca2).
Mesdaghi S et al.
Bioscience Reports, 2023
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
Michaud V et al.
Nature Communications, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
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
Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism.
Kessel L et al.
Ophthalmic Genetics, 2021
Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure.
Litts KM et al.
Translational Vision Science & Technology, 2021
Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.
Jackson D et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants.
Rayner JE et al.
Plos One, 2020
Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation.
Chunn LM et al.
Frontiers in Genetics, 2020
Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma.
Nathan V et al.
Pigment Cell & Melanoma Research, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.
Potjer TP et al.
International Journal of Cancer, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).
Norman CS et al.
Scientific Reports, 2017
Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.
Gao J et al.
Cell & Bioscience, 2017
Normal cognitive outcome in a PEX6 deficient girl despite neonatal multisystem presentation.
Witters P et al.
American Journal of Medical Genetics. Part A, 2016
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.
Komor AC et al.
Nature, 2016
An intracellular anion channel critical for pigmentation.
Bellono NW et al.
Elife, 2014
Relationship between foveal cone specialization and pit morphology in albinism.
Wilk MA et al.
Investigative Ophthalmology & Visual Science, 2014
Computational screening of disease-associated mutations in OCA2 gene.
Kamaraj B et al.
Cell Biochemistry and Biophysics, 2014
High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene.
Morice-Picard F et al.
Pigment Cell & Melanoma Research, 2014
8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients.
Barber JC et al.
American Journal of Medical Genetics. Part A, 2013
Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
Booij JC et al.
Ophthalmology, 2011
Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.
Hutton SM et al.
The Journal of Investigative Dermatology, 2008
Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.
Oetting WS et al.
Human Mutation, 1999
Novel mutations of the P gene in type II oculocutaneous albinism (OCA2).
Spritz RA et al.
Human Mutation, 1997