Nyamkhishig Sambuughin

Author

Uniformed Services University of the Health Sciences ORCID

Also Known As

N Sambuughin, N. Sambuughin, Nyamkhishig SAMBUUGHIN, Nyamkhishig Sambuughin, Nyamkhishig N. Sambuughin

Publications

3.5K

Citations

H-Index

Concepts

All Affiliations

Uniformed Services University of the Health Sciences National Institute of Neurological Disorders and Stroke National Institutes of Health Barrow Neurological Institute National Human Genome Research Institute

About

Nyamkhishig Sambuughin is an author at Uniformed Services University of the Health Sciences specializing in medicine, pathology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	22	27	2.3K
2	Health Sciences	3	3	115
3	Natural Sciences	3	3	425
4	Public Health	1	1	102
5	Anesthesia	1	1	19

Nyamkhishig Sambuughin

Publications

3.4K

Citations

H-Index

Page 1

	Year	Citations
Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V Anthony Antonellis, Rachel E. Ellsworth, Nyamkhishig Sambuughin, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderGeneticsMolecular BiologyDegenerative Disease	2003	555
Mitochondrial DNA Analysis of Mongolian Populations and Implications for the Origin of New World Founders Connie J. Kolman, Nyamkhishig Sambuughin, Eldredge Bermingham Genetics GeneticsMitochondrial Dna AnalysisNew World FoundersMongolian PopulationsPhylogenetics	1996	342
Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores Nyamkhishig Sambuughin, Kyle S. Yau, Montse Olivé, The American Journal of Human Genetics Genetic DisorderGeneticsPathologyMolecular GeneticsCause Nemaline Myopathy	2010	157
Global Patterns of Human DNA Sequence Variation in a 10-kb Region on Chromosome 1 Yu Ning, Zhongming Zhao, Yun Fu, Molecular Biology and Evolution	2001	151
Screening of the Entire Ryanodine Receptor Type 1 Coding Region for Sequence Variants Associated with Malignant Hyperthermia Susceptibility in the North American Population Nyamkhishig Sambuughin, Heather Holley, Sheila M. Muldoon, Anesthesiology	2005	147
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations Kumaraswamy Sivakumar, Theodoros Kyriakides, Imke Puls, Brain Neurological DisorderGeneticsPhenotypic SpectrumMolecular GeneticsPeripheral Nerve	2005	133
Allelic variation at alcohol metabolism genes ( ADH1B , ADH1C , ALDH2 ) and alcohol dependence in an American Indian population Connie J. Mulligan, Robert W. Robin, Michael V. Osier, Human Genetics Alcohol Metabolism GenesSubstance AbuseAllelic VariantSubstance UseAllelic Variation	2003	102
Identical de novo Mutation in the Type 1 Ryanodine Receptor Gene Associated with Fatal, Stress-induced Malignant Hyperthermia in Two Unrelated Families Linda Groom, Sheila M. Muldoon, Zhen Zhi Tang, Anesthesiology	2011	93
Ancestral Origins and Worldwide Distribution of the PRNP 200K Mutation Causing Familial Creutzfeldt-Jakob Disease Hee Suk Lee, Nyamkhishig Sambuughin, Larisa Červen̆áková, The American Journal of Human Genetics Mendelian DisorderCreutzfeldt-jakob DiseaseAncestral OriginsGenetic DisorderGenetics	1999	90
Desmin-related myopathy: clinical, electrophysiological, radiological, neuropathological and genetic studies Montse Olivé, Lev G. Goldfarb, Dolores Moreno, Journal of the Neurological Sciences Neurological DisorderDesmin-related MyopathyDegenerative DiseaseNeurologyNeuropathology	2004	87

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