Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report

Clinical management and outcomes of patients with Hermansky-Pudlak syndrome pulmonary fibrosis evaluated for lung transplantation

(2018) Souheil El-Chemaly et al.   PLoS One

Hermansky-Pudlak syndrome with a novel genetic variant inHPS1and subsequent accelerated pulmonary fibrosis: significance for phenocopy diseases

(2018) Oliver J McElvaney et al.   THORAX

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

(2017) Peter D. Stenson et al.   HUMAN GENETICS

Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing

(2017) Tom E.J. Theunissen et al.   JOURNAL OF PEDIATRICS

Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

(2016) Mohamed Abouelhoda et al.   GENETICS IN MEDICINE

NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients

(2016) Aihua Wei et al.   Pigment Cell & Melanoma Research

Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population

(2015) Sairah Yousaf et al.   Pigment Cell & Melanoma Research

Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics

(2008) Marjan Huizing et al.   Annual Review of Genomics and Human Genetics