Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Unraveling Hermansky-Pudlak syndrome type 7: a case report and comprehensive literature review on the identification of DTNBP1 variants.
Rodrigues R et al.
Ophthalmic Genetics, 2024
Hermansky-Pudlak syndrome with early onset inflammatory bowel disease due to loss of dysbindin expression.
Bhattad S et al.
European Journal of Medical Genetics, 2023
A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies.
Boeckelmann D et al.
Cells, 2021
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
Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing.
Bastida JM et al.
Annals of Medicine, 2019
Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS.
Bryan MM et al.
Molecular Genetics and Metabolism, 2017
Microsatellite markers as a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: identification of the second HPS7 mutation in a patient presenting late in life.
Lowe GC et al.
Thrombosis and Haemostasis, 2013
Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis.
Wei AH et al.
Pigment Cell & Melanoma Research, 2013
Cell biology of the BLOC-1 complex subunit dysbindin, a schizophrenia susceptibility gene.
Mullin AP et al.
Molecular Neurobiology, 2011
Positive association of schizophrenia to JARID2 gene.
Pedrosa E et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2007
DTNBP1 (Dystrobrevin binding protein 1) and schizophrenia: association evidence in the 3' end of the gene.
Duan J et al.
Human Heredity, 2007
Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.
Wei ML
Pigment Cell Research, 2006
The cell biology of Hermansky-Pudlak syndrome: recent advances.
Di Pietro SM et al.
Traffic (copenhagen, Denmark), 2005
Molecular defects that affect platelet dense granules.
Gunay-Aygun M et al.
Seminars in Thrombosis and Hemostasis, 2004
Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).
Li W et al.
Nature Genetics, 2003