Patterns of genic intolerance of rare copy number variation in 59,898 human exomes
Ruderfer DM, Hamamsy T, Lek M, Karczewski KJ, Kavanagh D, Samocha KE, Daly M, MacArthur D, Fromer M, Purcell S. Patterns of genic intolerance of rare copy number variation in 59,898 human exomes. Nature Genetics 2016, 48: 1107-1111. PMID: 27533299, PMCID: PMC5042837, DOI: 10.1038/ng.3638.Peer-Reviewed Original ResearchConceptsGenic copy number variantsHuman genetic variationExome Aggregation ConsortiumRare copy number variationsCopy number variationsCopy number variantsExome sequencing dataGenetic variationGenic intoleranceHuman exomeSequencing dataPersonal genomesNumber variationsNumber variantsGenomeIntegrated databaseExomeVariationVariantsConsortiumDiagnosis and etiology of congenital muscular dystrophy: We are halfway there
O'Grady GL, Lek M, Lamande SR, Waddell L, Oates EC, Punetha J, Ghaoui R, Sandaradura SA, Best H, Kaur S, Davis M, Laing NG, Muntoni F, Hoffman E, MacArthur DG, Clarke NF, Cooper S, North K. Diagnosis and etiology of congenital muscular dystrophy: We are halfway there. Annals Of Neurology 2016, 80: 101-111. PMID: 27159402, DOI: 10.1002/ana.24687.Peer-Reviewed Original ResearchConceptsMuscle biopsyImmunohistochemical analysisGenetic diagnosisCongenital muscular dystrophy patientsFirst-line toolCandidate gene sequencingCongenital myasthenic syndromeCongenital muscular dystrophyMuscular dystrophy patientsAnn NeurolMyasthenic syndromeUndiagnosed patientsCMD patientsCongenital myopathyLarge cohortProbable diagnosisPatientsGene sequencingClinical phenotypeDystrophy patientsLaminin α2BiopsyDiagnosisChromosomal microarrayCohort