2017
Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study
Ghazani AA, Oliver NM, St. Pierre JP, Garofalo A, Rainville IR, Hiller E, Treacy DJ, Rojas-Rudilla V, Wood S, Bair E, Parello M, Huang F, Giannakis M, Wilson FH, Stover EH, Corsello SM, Nguyen T, Rana HQ, Church AJ, Lowenstein C, Cibulskis C, Amin-Mansour A, Heng J, Brais L, Santos A, Bauer P, Waldron A, Lo P, Gorman M, Lydon CA, Welch M, McNamara P, Gabriel S, Sholl LM, Lindeman NI, Garber JE, Joffe S, Van Allen EM, Gray SW, Jänne P, Garraway LA, Wagle N. Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study. Genetics In Medicine 2017, 19: 787-795. PMID: 28125075, DOI: 10.1038/gim.2016.191.Peer-Reviewed Original ResearchConceptsClinical evidenceCancer precision medicineWhole-exome sequencing dataPrecision medicineMolecular tumor boardTumor biopsy samplesGerm-line alterationsGerm-line variantsProtocol-based approachPrecision medicine studiesMetastatic colorectalPatient preferencesTumor boardLung adenocarcinomaClinical careBlood samplesBiopsy samplesClinical relevanceClinical teamClinical meaningTherapeutic relevanceUnknown significanceVariant reviewMedicine studiesGenomic alterations
2004
A Cluster of Metabolic Defects Caused by Mutation in a Mitochondrial tRNA
Wilson FH, Hariri A, Farhi A, Zhao H, Petersen KF, Toka HR, Nelson-Williams C, Raja KM, Kashgarian M, Shulman GI, Scheinman SJ, Lifton RP. A Cluster of Metabolic Defects Caused by Mutation in a Mitochondrial tRNA. Science 2004, 306: 1190-1194. PMID: 15498972, PMCID: PMC3033655, DOI: 10.1126/science.1102521.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgingAnticodonBody Mass IndexCluster AnalysisCytidineExtrachromosomal InheritanceFemaleHumansHypercholesterolemiaHypertensionMagnesiumMaleMetabolic SyndromeMiddle AgedMitochondriaMitochondria, MuscleMuscle Fibers, SkeletalMutationPedigreePhenotypeRNARNA, MitochondrialRNA, Transfer, IleSyndromeThymidineUridine