Concepedia

Karin Fuentes Fajardo

KF

Statistics

Publications

7

Citations

699

H-Index

7

Active since

2011

Affiliations

National Human Genome Research Institute(Current)

National Institutes of Health

National Institute of Neurological Disorders and Stroke

Office of the Director

Office of the Director

Karin Fuentes Fajardo is an author at National Human Genome Research Institute specializing in life sciences, genetics, and medical genetics.

Publications per year

2011–2014

7

Publications

7

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

William A. Gahl, Thomas C. Markello, Camilo Toro et al. · Genetics in Medicine · 2012 · 293 citations · Full text

, , +17

Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

Tyler Mark Pierson, David R. Adams, Florian Bonn et al. · PLoS Genetics · 2011 · 230 citations · Full text

, , +17

Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity

David R. Adams, Hongjie Yuan, Todd Holyoak et al. · Molecular Genetics and Metabolism · 2014 · 65 citations · Full text

, , +10

Analysis of DNA sequence variants detected by high-throughput sequencing

David R. Adams, Murat Sincan, Karin Fuentes Fajardo et al. · Human Mutation · 2012 · 37 citations · Full text

, , +15

Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM <sub>1</sub> -gangliosidosis

Tyler Mark Pierson, David A. Adams, Thomas C. Markello et al. · Neurology · 2012 · 36 citations · Full text

, , +17

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