Nyamkhishig Sambuughin

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 et al. · The American Journal of Human Genetics · 2003 · 555 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +5

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

Connie J. Kolman, Nyamkhishig Sambuughin, Eldredge Bermingham · Genetics · 1996 · 342 citations · Full text

Genetics, Mitochondrial Dna Analysis, New World Founders +18

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

Nyamkhishig Sambuughin, Kyle S. Yau, Montse Olivé et al. · The American Journal of Human Genetics · 2010 · 157 citations · Full text

Genetic Disorder, Genetics, Pathology +5

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

Yu Ning, Zhongming Zhao, Yun Fu et al. · Molecular Biology and Evolution · 2001 · 151 citations · Full text

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 et al. · Anesthesiology · 2005 · 147 citations · Full text