Associated Papers
Genetic Analysis of Patients with Chronic Thromboembolic Pulmonary Hypertension (CTEPH): A Single-Center Observational Study.
Bereczky Z et al.
Genes, 2025
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
Green DJ et al.
Nature Communications, 2024
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
Michaud V et al.
Nature Communications, 2022
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 2021
Familial Pulmonary Fibrosis and Hermansky-Pudlak Syndrome Rare Missense Mutations in Context.
Stearman RS et al.
American Journal of Respiratory and Critical Care Medicine, 2019
Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.
Witkiewicz AK et al.
Nature Communications, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.
Hutton SM et al.
Investigative Ophthalmology & Visual Science, 2008
Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.
Wei ML
Pigment Cell Research, 2006
Mutation analysis of HPS1, the gene mutated in Hermansky-Pudlak syndrome, in patients with isolated platelet dense-granule deficiency.
Corral J et al.
Haematologica, 2004
Molecular, ultrastructural and functional characterization of a Spanish family with Hermansky-Pudlak syndrome: role of insC974 in platelet function and clinical relevance.
González-Conejero R et al.
British Journal of Haematology, 2003
Hermansky-Pudlak syndrome and related disorders of organelle formation.
Huizing M et al.
Traffic (copenhagen, Denmark), 2000
Hermansky-Pudlak syndrome and pale ear: melanosome-making for the millennium.
Spritz RA
Pigment Cell Research, 2000
HPS gene mutations in Hermansky-Pudlak syndrome.
Spritz RA et al.
American Journal of Human Genetics, 1999
Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.
Oh J et al.
American Journal of Human Genetics, 1998
Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene.
Bailin T et al.
The Journal of Investigative Dermatology, 1997
Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles.
Oh J et al.
Nature Genetics, 1996