Concepedia

Author

Richard Person

University of Washington

Also Known As

Heather McLaughlin, Lespinasse, James, Lindsay Burrage, Manuela Pendziwiat, R E Person, R Person, R. E. Person, R. Person, R.E. Person, RICHARD E. PERSON

146

Publications

11.1K

Citations

44

H-Index

150

Concepts

All Affiliations

University of WashingtonBaylor College of MedicineInsermTexas Children's HospitalChildren's Hospital of Philadelphia
RP

About

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

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

32

47

4.5K

2

Health Sciences

4

4

434

3

Engineering

3

3

711

4

Natural Sciences

3

3

294

5

Public Health

1

1

25

Richard Person

×

90

Publications

10.7K

Citations

41

H-Index

YearCitations

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Yaping Yang, Donna M. Muzny, Jeffrey G. Reid,

New England Journal of Medicine

2013

1.9K

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Yaping Yang, Donna M. Muzny, Fan Xia,

JAMA

2014

1.4K

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,

Nature Genetics

2008

658

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

David C. Dale, Richard Person, Audrey Anna Bolyard,

Blood

2000

557

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

Marshall S. Horwitz, Kathleen F. Benson, Richard Person,

Nature Genetics

1999

461

Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2

Richard Person, Feng-Qian Li, Zhijun Duan,

Nature Genetics

2003

386

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome

Angela L. Duker, Blake C. Ballif, Erawati V. Bawle,

European Journal of Human Genetics

2010

316

Iron deficiency in the rat. Physiological and biochemical studies of muscle dysfunction.

C. A. Finch, Lantz Miller, A. R. Inamdar,

Journal of Clinical Investigation

1976

308

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Vincenzo Salpietro, Christine L. Dixon, Hui Guo,

Nature Communications

2019

236

Molecular diagnostic experience of whole-exome sequencing in adult patients

Jennifer E. Posey, Jill A. Rosenfeld, Regis A. James,

Genetics in Medicine

2015

235

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