Dominick Amato

Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)

Wei Li, Qing Zhang, Naoki Oiso et al. · Nature Genetics · 2003 · 431 citations · Full text

Mendelian Disorder, Genetics, Molecular Genetics +4

Pivotal trial with plant cell–expressed recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher disease

Ari Zimran, Einat Brill‐Almon, Raul Chertkoff et al. · Blood · 2011 · 202 citations · Full text

Effect of Oral Eliglustat on Splenomegaly in Patients With Gaucher Disease Type 1

Pramod K. Mistry, Elena Lukina, Hadhami Ben Turkia et al. · JAMA · 2015 · 152 citations · Full text

Selective Depression of Blood Group Antigens Associated with Hereditary Ovalocytosis among Melanesians

P. B. Booth, S. W. Serjeantson, D. G. Woodfield et al. · Vox Sanguinis · 1977 · 102 citations

Histocompatibility, Immunohematology, Genetics +19

Hypersensitivity of circulating progenitor cells to megakaryocyte growth and development factor (PEG-rHu MGDF) in essential thrombocythemia

Arthur A. Axelrad, D Eskinazi, Paulo N. Correa et al. · Blood · 2000 · 94 citations