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Nyamkhishig Sambuughin | Researchclopedia

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Nyamkhishig Sambuughin

Henry M. Jackson Foundation ORCID

98

Works

3,550

Citations

33

h-index

50

i10-index

Research Topics

Ion channel regulation and function Cardiac electrophysiology and arrhythmias Cardiovascular Effects of Exercise

Affiliations

Unifor2024–2024

Henry M. Jackson Foundation2013–2026

Smithsonian Tropical Research Institute1996–1996

Family Health International 3602019–2019

National Institutes of Health1999–2006

Top Works

Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V

Anthony Antonellis,Rachel E. Ellsworth,et al.

2003559 citations

Muscle and Compartmental Disorders

Skin and Cellular Biology Research

Mitochondrial DNA Analysis of Mongolian Populations and Implications for the Origin of New World Founders

Connie J. Kolman,Nyamkhishig Sambuughin,et al.

1996342 citations

Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores

Nyamkhishig Sambuughin,Kyle S. Yau,et al.

2010159 citations

Global Patterns of Human DNA Sequence Variation in a 10-kb Region on Chromosome 1

Yu Ning,Zhongming Zhao,et al.

2001151 citations

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,et al.

2005148 citations

Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations

Kumaraswamy Sivakumar,Theodoros Kyriakides,et al.

2005133 citations

Allelic variation at alcohol metabolism genes ( ADH1B , ADH1C , ALDH2 ) and alcohol dependence in an American Indian population

Connie J. Mulligan,Robert W. Robin,et al.

2003102 citations

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,et al.

201194 citations

Ancestral Origins and Worldwide Distribution of the PRNP 200K Mutation Causing Familial Creutzfeldt-Jakob Disease

Hee Suk Lee,Nyamkhishig Sambuughin,et al.

199990 citations