ArticleNeurology. Genetics2018
Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.
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Article in Neurology. Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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27citing papers in PubMed
6.0field-weighted citation impact, top 3% of its field
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Who cites it
27 citing papers in PubMed, 52 citations in OpenAlex.
- Trial
- Clinical Utility of Rapid Whole-Genome Sequencing in Hospitalized Adults With Unexplained Neurologic Presentations.Neurology · 2026Article
- Skipping the Biopsy: Real-World Experience of Whole-Exome Sequencing as First-Tier Testing in Pediatric Muscular Disorders.International journal of molecular sciences · 2026Article
- Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.Journal of neurology · 2024Article
- Utility of exome sequencing for the diagnosis of pediatric-onset neuromuscular diseases beyond diagnostic yield: a narrative review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Review
- Article
- Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing.Journal of neuromuscular diseases · 2023Article
- Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.Frontiers in neurology · 2023Article
- Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases.Journal of medical genetics · 2022Article
- How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.Journal of inherited metabolic disease · 2022Review
- Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.Journal of clinical medicine · 2022Article
- Using gene panels in the diagnosis of neuromuscular disorders: A mini-review.Frontiers in neurology · 2022Review
- An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia.Muscle & nerve · 2022Article
- Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.Journal of neurology, neurosurgery, and psychiatry · 2021Article
- Facilitations and Hurdles of Genetic Testing in Neuromuscular Disorders.Diagnostics (Basel, Switzerland) · 2021Review
- Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.PloS one · 2021Article
- The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders.Molecular diagnosis & therapy · 2020Review
- Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders.Journal of clinical medicine · 2020Article
- Clinical exome sequencing in neuromuscular diseases: an experience from Turkey.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Article
- Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients.Molecular genetics & genomic medicine · 2020Article
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Authors and funding
20 authors at 4 institutions in 1 country.
Gloria T HaskellDepartment of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
Michael C AdamsDepartment of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
Zheng FanDepartment of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
Krunal AminDepartment of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
Roberto J Guzman BadilloDepartment of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
Linran ZhouDepartment of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
Christopher BizonDepartment of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
Nizar ChahinDepartment of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
Robert S GreenwoodDepartment of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
Laura V MilkoDepartment of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
Yael Shiloh-MalawskyDepartment of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
Kristy R CrooksDepartment of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
Natasha StrandeDepartment of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
Michael TennisonDepartment of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
Christian R TilleyDepartment of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
Alicia BrandtDepartment of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
Kirk C WilhelmsenDepartment of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
Karen WeckDepartment of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
James P EvansDepartment of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
Jonathan S BergDepartment of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
Duke University · USOregon Health & Science University · USRenaissance Computing Institute · USThe Ohio State University Wexner Medical Center · US
Funding
North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing 2U01HG006487 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI BERG, JONATHAN S, POWELL, BRADFORD C. · 2012 to 2021
$22.7MNHGRI NIH HHS U01 HG006487
Abstract
objectiveTo evaluate the diagnostic yield and workflow of genome-scale sequencing in patients with neuromuscular disorders (NMDs).
methodsWe performed exome sequencing in 93 undiagnosed patients with various NMDs for whom a molecular diagnosis was not yet established. Variants on both targeted and broad diagnostic gene lists were identified. Prior diagnostic tests were extracted from the patient's medical record to evaluate the use of exome sequencing in the context of their prior diagnostic workup.
resultsThe overall diagnostic yield of exome sequencing in our cohort was 12.9%, with one or more pathogenic or likely pathogenic variants identified in a causative gene associated with the patient's disorder. Targeted gene lists had the same diagnostic yield as a broad NMD gene list in patients with clear neuropathy or myopathy phenotypes, but evaluation of a broader set of disease genes was needed for patients with complex NMD phenotypes. Most patients with NMD had undergone prior testing, but only 10/16 (63%) of these procedures, such as muscle biopsy, were informative in pointing to a final molecular diagnosis.
conclusionsGenome-scale sequencing or analysis of a panel of relevant genes used early in the evaluation of patients with NMDs can provide or clarify a diagnosis and minimize invasive testing in many cases.
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