Nyamkhishig Sambuughin

Henry M. Jackson Foundation — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

33h-index3.5kcitations98works1.82yr avg
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Research Topics

Ion channel regulation and function(26), Cardiac electrophysiology and arrhythmias(18), Cardiovascular Effects of Exercise(11), Skin and Cellular Biology Research(9), Hereditary Neurological Disorders(9)

Publications98 total

Acute rhabdomyolysis as the presenting symptom in two females with a DMD mutation
Neurological Sciences·2026
Mitochondrial Dysfunction In Sickle Cell Trait Carriers With A History Of Exercise Collapse
Medicine & Science in Sports & Exercise·2025
Recurrent Exertional Rhabdomyolysis in a Service Member with a PRKN Mutation
Medicine & Science in Sports & Exercise·2025
RNA Sequencing on Muscle Biopsies from Exertional Rhabdomyolysis Patients Revealed Down-Regulation of Mitochondrial Function and Enhancement of Extracellular Matrix Composition
Genes·2025· 1 citedOpen Access
Mitochondrial Dysfunction in Sickle Cell Trait Carriers With Exertional Collapse
Case Reports in Genetics·2025Open Access
The human plasma lipidome response to exertional heat tolerance testing
Lipids in Health and Disease·2024· 3 citedOpen Access
Genetics of Exertional Heat Illness: Revealing New Associations and Expanding Heterogeneity
International Journal of Molecular Sciences·2024· 6 citedOpen Access
The impact of heat stress on the human plasma lipidome
2024· 4 citedOpen Access
The impact of heat stress on the human plasma lipidome
2024Open Access
Genome-Wide Analysis of Exertional Rhabdomyolysis in Sickle Cell Trait Positive African Americans
Genes·2024· 4 citedOpen Access
Optimization of Omega-3 Index Levels in Athletes at the US Naval Academy: Personalized Omega-3 Fatty Acid Dosage and Molecular Genetic Approaches
Nutrients·2022· 7 citedOpen Access
Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for <i>RYR1</i> -related malignant hyperthermia susceptibility
Human Molecular Genetics·2022· 50 citedOpen Access
Updated Variant Curation Expert Panel Criteria and Pathogenicity Classifications for 251 Variants for <i>RYR1</i> -related Malignant Hyperthermia Susceptibility
2022· 1 citedOpen Access
eP364: Lessons from pathogenicity classifications for 251 RYR1 variants associated with malignant hyperthermia susceptibility using variant curation expert panel revised criteria
Genetics in Medicine·2022
Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility
Genetics in Medicine·2021· 76 citedOpen Access
Variant Curation Expert Panel Recommendations for RYR1 Pathogenicity Assertions in Malignant Hyperthermia Susceptibility
2020· 3 citedOpen Access
Figure 2. [MHAUS treatment guide for malignant hyperthermia].
2020
Table A. [Malignant Hyperthermia Susceptibility: Genes and Databases].
2020
Table 4. [CACNA1S: Allelic Disorders].
2020
Table 5a. [Acquired Conditions to Consider in the Differential Diagnosis of Malignant Hyperthermia (MH)].
2020
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Frequent Co-authors

Lev G. Goldfarb(23), Sheila M. Muldoon(15), Kumaraswamy Sivakumar(11), Montse Olivé(7), Henry Rosenberg(7), John F. Capacchione(7), Barbara W. Brandom(6), Marinos C. Dalakas(6), Saiid Bina(6), Patrick Vicart(6), Bertrand Goudeau(5), Sheila Riazi(5), Patricia A. Deuster(5), Munkhuu Bayarsaikhan(4), Robert T. Dirksen(4), Thomas E. Nelson(4), Shona McWilliams(4), Ayush Dagvadorj(3), Isidró Ferrer(3), Aleksey Shatunov(3)