2015
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned
Ghaoui R, Cooper ST, Lek M, Jones K, Corbett A, Reddel SW, Needham M, Liang C, Waddell LB, Nicholson G, O’Grady G, Kaur S, Ong R, Davis M, Sue CM, Laing NG, North KN, MacArthur DG, Clarke NF. Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. JAMA Neurology 2015, 72: 1424-1432. PMID: 26436962, DOI: 10.1001/jamaneurol.2015.2274.Peer-Reviewed Original ResearchConceptsLGMD-related genesLimb-girdle muscular dystrophyWhole-exome sequencingMyopathy genesBiopsy specimensDiagnostic rateMutations of CHD7Follow-up screeningMuscular dystrophyAccurate clinical examinationLikely pathogenic mutationsMuscle biopsy specimensTubular aggregate myopathyCongenital myasthenic syndromeGenetic diagnosisDiagnostic success rateNeuromuscular clinicMuscle weaknessMyopathic changesClinical examinationHistopathological resultsAncillary investigationsMyasthenic syndromeCommon causeDiagnostic yield
2012
The uncertain road towards genomic medicine
MacArthur DG, Lek M. The uncertain road towards genomic medicine. Trends In Genetics 2012, 28: 303-305. PMID: 22658726, DOI: 10.1016/j.tig.2012.05.001.Peer-Reviewed Original Research