Jasmine Healy

Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia

Kathleen A. Quane, Jasmine Healy, Katherine E. Keating et al. · Nature Genetics · 1993 · 352 citations

Malignant Hyperthermia, Physiology, Pathology +2

Variation in CDKN2A at 9p21.3 influences childhood acute lymphoblastic leukemia risk

Amy L. Sherborne, Fay J. Hosking, Rashmi B. Prasad et al. · Nature Genetics · 2010 · 258 citations

Hematological Malignancy, Tumor Biology, Immunology +7

Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies

Kathleen A. Quane, Katherine E. Keating, Bernadette M. Manning et al. · Human Molecular Genetics · 1994 · 112 citations

Mutation Screening of the RYR1 Gene in Malignant Hyperthermia: Detection of a Novel Tyr to Ser Mutation in a Pedigree with Associated Central Cores

Kathleen A. Quane, Katherine E. Keating, Jasmine Healy et al. · Genomics · 1994 · 102 citations

Somatic Variant, Genetic Disorder, Medicine +11

Whole-Exome Sequencing Reveals a Rapid Change in the Frequency of Rare Functional Variants in a Founding Population of Humans

Ferrán Casals, Alan Hodgkinson, Julie Hussin et al. · PLoS Genetics · 2013 · 91 citations · Full text

Rare Functional Variants, Genetics, Genetic Epidemiology +25