Stephen G. Gonsalves

Variant Curation Expert Panel Recommendations for RYR1 Pathogenicity Classifications in Malignant Hyperthermia Susceptibility

R. Saxena, L. Biesecker, J. Johnston, 2020, Genetics in Medicine.

Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.

Larry N. Singh, J. Mullikin, H. Kong, 2015, American journal of human genetics.

Erratum: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716301069) (10.1016/j.ajhg.2016.04.011))

Sara Chandros Hull, Robert C. Green, Sean D. Mooney, 2016 .

Using Exome Data to Identify Malignant Hyperthermia Susceptibility Mutations

J. Mullikin, P. Stenson, D. Cooper, 2013, Anesthesiology.

Current and emerging technology approaches in genomics.

Leslie G Biesecker, Yvette P Conley, Stephen Gonsalves, 2013, Journal of nursing scholarship : an official publication of Sigma Theta Tau International Honor Society of Nursing.

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes

Sephalie Y. Patel, K. Sangkuhl, T. Klein, 2019, Clinical pharmacology and therapeutics.

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Matthew S. Lebo, Victoria A. Miller, Jeffrey W. Pennington, 2016, American journal of human genetics.