Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome

Clinical Trial ID NCT00001456

Rank	Title	Journal	Year	PubWeight™‹?›
1	Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome).	N Engl J Med	1998	2.42
2	Retracted A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9.	Am J Hum Genet	2011	2.25
3	Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.	Nat Genet	2001	1.83
4	Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome.	Mol Genet Metab	2002	1.76
5	Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex disease.	Mol Med	2012	1.26
6	A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8.	Pigment Cell Melanoma Res	2012	0.82
7	Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent.	J Invest Dermatol	2011	0.81
8	In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer.	Mol Genet Metab	2014	0.77