Concepedia

Kevin O’Brien

KO

42

Publications

2K

Citations

26

H-Index

1969

Active since

Affiliations

National Human Genome Research Institute(Current)

National Institutes of Health

Office of the Director

National Institutes of Health Clinical Center

National Eye Institute

Kevin O’Brien is an author at National Human Genome Research Institute specializing in medicine, pathology, and pulmonary fibrosis.

ORCID

Top concepts

Publications per year

1969–2021

42

Publications

42

The clinical spectrum of Erdheim-Chester disease: an observational cohort study

Juvianee Estrada‐Veras, Kevin O’Brien, Louisa C. Boyd et al. · Blood Advances · 2017 · 242 citations · Full text

Use of nitisinone in patients with alkaptonuria

Pim Suwannarat, Kevin O’Brien, Monique B. Perry et al. · Metabolism · 2005 · 161 citations · Full text

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Mistargeting of Peroxisomal EHHADH and Inherited Renal Fanconi's Syndrome

Enriko Klootwijk, Markus Reichold, Amanda Helip‐Wooley et al. · New England Journal of Medicine · 2014 · 123 citations · Full text

Hermansky–Pudlak syndrome: Mutation update

Marjan Huizing, May Christine V. Malicdan, Jennifer A. Wang et al. · Human Mutation · 2020 · 109 citations · Full text

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Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria

Jennifer L. Sloan, Jennifer J. Johnston, Irini Manoli et al. · Nature Genetics · 2011 · 105 citations · Full text

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