2017
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
Pena LDM, Jiang YH, Schoch K, Spillmann RC, Walley N, Stong N, Rapisardo Horn S, Sullivan JA, McConkie-Rosell A, Kansagra S, Smith EC, El-Dairi M, Bellet J, Keels MA, Jasien J, Kranz PG, Noel R, Nagaraj SK, Lark RK, Wechsler DSG, del Gaudio D, Leung ML, Hendon LG, Parker CC, Jones KL, Goldstein D, Shashi V. Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. Genetics In Medicine 2017, 20: 464-469. PMID: 28914269, PMCID: PMC5851806, DOI: 10.1038/gim.2017.128.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingMagnetic resonance image changesPathogenic variantsSanger sequencingPhenotype-first approachFurther diagnostic testingNew clinical findingsInfantile neuroaxonal dystrophyHeterozygous pathogenic variantsInfantile systemic hyalinosisSingle-gene testingClinical suspicionClinical findingsConclusionThese casesCerebellar atrophyWhite matter leukoencephalopathyNeuroaxonal dystrophyProgressive ataxiaMolecular testingSystemic hyalinosisNGS testingNovel homozygous deletionUndiagnosed diseaseClinical diagnosisDiagnostic testing
2010
Pseudometabolic presentation of dystrophinopathy due to a missense mutation
Veerapandiyan A, Shashi V, Jiang Y, Gallentine W, Schoch K, Smith E. Pseudometabolic presentation of dystrophinopathy due to a missense mutation. Muscle & Nerve 2010, 42: 975-979. PMID: 21104870, PMCID: PMC5506871, DOI: 10.1002/mus.21823.Peer-Reviewed Original ResearchConceptsMuscle stiffnessNormal neurological examinationRetrospective chart reviewIdentical point mutationMissense mutationsWestern blot analysisExertional myalgiaChart reviewNeurological examinationClinical findingsExercise intoleranceRecurrent rhabdomyolysisMetabolic myopathyClinical reportsDMD geneUnrelated boysInaccurate diagnosisMyalgiaRhabdomyolysisFurther studiesBlot analysisSpecific mutationsExon 15Amino acid substitutionsBoys