Concepedia

Kevin O’Brien

KO

Statistics

Publications

44

Citations

2.1K

H-Index

27

Active since

1969

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, genetics, and genetic disorders.

ORCID

Publications per year

1969–2021

44

Publications

44

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 · 250 citations · Full text

, , +17

Use of nitisinone in patients with alkaptonuria

Pim Suwannarat, Kevin O’Brien, Monique B. Perry et al. · Metabolism · 2005 · 162 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 · 129 citations · Full text

, , +17

Hermansky–Pudlak syndrome: Mutation update

Marjan Huizing, May Christine V. Malicdan, Jennifer A. Wang et al. · Human Mutation · 2020 · 113 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 · 108 citations · Full text

, , +8

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