Concepedia

Richard Person

RP

90

Publications

10.7K

Citations

41

H-Index

1970

Active since

Affiliations

University of Washington(Current)

Baylor College of Medicine

Inserm

Texas Children's Hospital

Children's Hospital of Philadelphia

Richard Person is an author at University of Washington specializing in medicine, genetics, and developmental biology.

Top concepts

Publications per year

1970–2023

90

Publications

90

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 · 1.9K citations · Full text

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

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

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 · 658 citations · Full text

, , +12

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

David C. Dale, Richard Person, Audrey Anna Bolyard et al. · Blood · 2000 · 557 citations

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

, , +8

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