William A. Gahl

Somatic Mutations in <i>UBA1</i> and Severe Adult-Onset Autoinflammatory Disease

David B. Beck, Marcela A. Ferrada, Keith A. Sikora et al. · New England Journal of Medicine · 2020 · 1.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Platelet Polyphosphates Are Proinflammatory and Procoagulant Mediators In Vivo

Felicitas Müller, Nicola J. Mutch, Wolfdieter A. Schenk et al. · Cell · 2009 · 827 citations · Full text

Medicine, Hematology, Immunology +11

Phenotype and Course of Hutchinson–Gilford Progeria Syndrome

Melissa A. Merideth, Leslie B. Gordon, Sarah Clauss et al. · New England Journal of Medicine · 2008 · 741 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Altered Trafficking of Lysosomal Proteins in Hermansky-Pudlak Syndrome Due to Mutations in the β3A Subunit of the AP-3 Adaptor

Esteban C. Dell’Angelica, Vorasuk Shotelersuk, R. Claudio Aguilar et al. · Molecular Cell · 1999 · 670 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +14

Natural History of Alkaptonuria

Chanika Phornphutkul, Wendy J. Introne, Monique B. Perry et al. · New England Journal of Medicine · 2002 · 655 citations · Full text

Life Sciences, Genetics, Molecular Genetics +4