ReviewAnnals of pediatric endocrinology & metabolism2017
Next generation sequencing and array-based comparative genomic hybridization for molecular diagnosis of pediatric endocrine disorders.
Review in Annals of pediatric endocrinology & metabolism, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed.
- A multidisciplinary paediatric endocrine genetic clinic: experience from a single tertiary centre.European journal of pediatrics · 2026Article
- Long-read next-generation sequencing for molecular diagnosis of pediatric endocrine disorders.Annals of pediatric endocrinology & metabolism · 2024Article
- Adherence to guidelines-recommended diagnostic testing was associated with overall survival in patients with diffuse large B-cell lymphoma after rituximab-based treatment: an observational cohort study.Journal of cancer research and clinical oncology · 2023Observational
- Biomarkers and novel therapeutic approaches for diffuse large B-cell lymphoma in the era of precision medicine.Oncotarget · 2020Review
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Authors and funding
2 authors.
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Abstract
Next-generation sequencing (NGS) and array-based comparative genomic hybridization (array CGH) have enabled us to perform high-throughput mutation screening and genome-wide copy number analysis, respectively. These methods can be used for molecular diagnosis of pediatric endocrine disorders. NGS has determined the frequency and phenotypic variation of mutations in several disease-associated genes. Furthermore, whole exome analysis using NGS has successfully identified several novel causative genes for endocrine disorders. Array CGH is currently used as the standard procedure for molecular cytogenetic analysis. Array CGH can detect various submicroscopic genomic rearrangements involving exons or enhancers of disease-associated genes. This review introduces some examples of the use of NGS and array CGH for the molecular diagnosis of pediatric endocrine disorders.
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