Karin Fuentes Fajardo

Author

National Human Genome Research Institute

Also Known As

Karin Fuentes Fajardo

Publications

688

Citations

H-Index

Concepts

All Affiliations

National Human Genome Research Institute National Institutes of Health National Institute of Neurological Disorders and Stroke Office of the Director Office of the Director

About

Karin Fuentes Fajardo is an author at National Human Genome Research Institute specializing in medicine, pathogenesis, and rare diseases.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	5	5	616
2	Public Health	2	2	298
3	Epidemiology	2	2	298
4	Natural Sciences	1	1	226
5	Molecular Biology	1	1	226

Karin Fuentes Fajardo

Publications

688

Citations

H-Index

Page 1

	Year	Citations
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases William A. Gahl, Thomas C. Markello, Camilo Toro, Genetics in Medicine Disease DiagnosisRare DiseasesMedicinePathogenesisGenetic Epidemiology	2012	287
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, PLoS Genetics Neurodegenerative DiseasesPeripheral NeuropathyMendelian DisorderGenetic DisorderMedicine	2011	226
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, Molecular Genetics and Metabolism Rare DiseasesMendelian DisorderDisease MechanismGenetic DisorderMedicine	2014	65
Analysis of DNA sequence variants detected by high-throughput sequencing David R. Adams, Murat Sincan, Karin Fuentes Fajardo, Human Mutation	2012	37
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, Neurology	2012	35
Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD) Tyler Mark Pierson, Thomas C. Markello, John Accardi, Neuromuscular Disorders Genetic DisorderExome SequencingGeneticsRespiratory DistressMedicine	2013	27
The National Institutes of Health Undiagnosed Diseases Program: Insights into rare diseases William A. Gahl, Thomas C. Markello, Camilo Toro, Genetics in Medicine Disease DiagnosisRare DiseasesMedicinePathogenesisGenetic Epidemiology	2011	11

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