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Page 1
Using exome data to identify malignant hyperthermia susceptibility mutations.
Gonsalves SG, Ng D, Johnston JJ, Teer JK, Stenson PD, Cooper DN, Mullikin JC, Biesecker LG; NISC Comparative Sequencing Program. Gonsalves SG, et al. Anesthesiology. 2013 Nov;119(5):1043-53. doi: 10.1097/ALN.0b013e3182a8a8e7. Anesthesiology. 2013. PMID: 24195946 Free PMC article.
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.
Johnston JJ, Lewis KL, Ng D, Singh LN, Wynter J, Brewer C, Brooks BP, Brownell I, Candotti F, Gonsalves SG, Hart SP, Kong HH, Rother KI, Sokolic R, Solomon BD, Zein WM, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG. Johnston JJ, et al. Among authors: gonsalves sg. Am J Hum Genet. 2015 Jun 4;96(6):913-25. doi: 10.1016/j.ajhg.2015.04.013. Am J Hum Genet. 2015. PMID: 26046366 Free PMC article.
Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility.
Johnston JJ, Dirksen RT, Girard T, Gonsalves SG, Hopkins PM, Riazi S, Saddic LA, Sambuughin N, Saxena R, Stowell K, Weber J, Rosenberg H, Biesecker LG. Johnston JJ, et al. Among authors: gonsalves sg. Genet Med. 2021 Jul;23(7):1288-1295. doi: 10.1038/s41436-021-01125-w. Epub 2021 Mar 25. Genet Med. 2021. PMID: 33767344 Free PMC article.
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes.
Gonsalves SG, Dirksen RT, Sangkuhl K, Pulk R, Alvarellos M, Vo T, Hikino K, Roden D, Klein TE, Poler SM, Patel S, Caudle KE, Gordon R, Brandom B, Biesecker LG. Gonsalves SG, et al. Clin Pharmacol Ther. 2019 Jun;105(6):1338-1344. doi: 10.1002/cpt.1319. Epub 2019 Jan 24. Clin Pharmacol Ther. 2019. PMID: 30499100 Free PMC article.
Current and emerging technology approaches in genomics.
Conley YP, Biesecker LG, Gonsalves S, Merkle CJ, Kirk M, Aouizerat BE. Conley YP, et al. J Nurs Scholarsh. 2013 Mar;45(1):5-14. doi: 10.1111/jnu.12001. Epub 2013 Jan 7. J Nurs Scholarsh. 2013. PMID: 23294727 Free PMC article.