Associated Papers
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.3
Molecular genetics of idiopathic pulmonary fibrosis.
Mustafin RN
Vavilovskii Zhurnal Genetiki I Selektsii, 2022
Hermansky-Pudlak syndrome type 2: A rare cause of severe periodontitis in adolescents-A case study.
Chen J et al.
Frontiers in Pediatrics, 2022
A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases.
La Cognata V et al.
Genes, 2021
Systematic review of drug effects in humans and models with surfactant-processing disease.
Klay D et al.
European Respiratory Review : an Official Journal of the European Respiratory Society, 2018
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201
Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils.
de Boer M et al.
Human Mutation, 2017
The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2.
Jessen B et al.
Blood, 2013
Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex disease.
Gochuico BR et al.
Molecular Medicine (cambridge, Mass.), 2012
Novel insights from adaptor protein 3 complex deficiency.
Badolato R et al.
The Journal of Allergy and Clinical Immunology, 2007
Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II.
Enders A et al.
Blood, 2006
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