Richard Person

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Yaping Yang, Donna M. Muzny, Jeffrey G. Reid et al. · New England Journal of Medicine · 2013 · 2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Yaping Yang, Donna M. Muzny, Fan Xia et al. · JAMA · 2014 · 1.4K citations

Life Sciences, Genetics, Molecular Genetics +17

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

Trilochan Sahoo, Daniela del Gaudio, Jennifer R. German et al. · Nature Genetics · 2008 · 664 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia

David C. Dale, Richard Person, Audrey Anna Bolyard et al. · Blood · 2000 · 559 citations

Life Sciences, Genetics, Molecular Genetics +12

Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis

Marshall S. Horwitz, Kathleen F. Benson, Richard Person et al. · Nature Genetics · 1999 · 461 citations

Life Sciences, Hematology, Molecular Biology +7