ReviewNature reviews. Endocrinology2015
Insights from exome sequencing for endocrine disorders.
Review in Nature reviews. Endocrinology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
What it found
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it.
- International Consensus Guideline on Small for Gestational Age: Etiology and Management From Infancy to Early Adulthood.Endocrine reviews · 2023Guideline
- Targeted massively parallel sequencing panel to diagnose genetic endocrine disorders in a tertiary hospital.Clinics (Sao Paulo, Brazil) · 2022Article
- Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery.Archives of endocrinology and metabolism · 2019Review
- Search for Novel Mutational Targets in Human Endocrine Diseases.Endocrinology and metabolism (Seoul, Korea) · 2019Review
- An update of genetic basis of PCOS pathogenesis.Archives of endocrinology and metabolism · 2018Review
- Analysis of Downs syndrome with molecular techniques for future diagnoses.Saudi journal of biological sciences · 2018Review
- Whole-Transcriptome Sequencing: a Powerful Tool for Vascular Tissue Engineering and Endothelial Mechanobiology.High-throughput · 2018Review
- Utility of Population-Level DNA Sequence Data in the Diagnosis of Hereditary Endocrine Disease.Journal of the Endocrine Society · 2017Article
- Novel metrics to measure coverage in whole exome sequencing datasets reveal local and global non-uniformity.Scientific reports · 2017Article
- Time Course of Central Precocious Puberty Development Caused by an MKRN3 Gene Mutation: A Prismatic Case.Hormone research in paediatrics · 2016Article
- SRC-2 orchestrates polygenic inputs for fine-tuning glucose homeostasis.Proceedings of the National Academy of Sciences of the United States of America · 2015Article
- Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.Molecular genetics and metabolism · 2015Article
- Genomic approaches for understanding the genetics of complex disease.Genome research · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
Abstract
Whole-exome sequencing has emerged as a fast and effective tool for the elucidation of genetic defects underlying both rare and common human diseases. Increased availability and decreased costs of next-generation sequencing have enabled investigators to use this approach not only in individual patients with rare diseases, but also to screen large cohorts or populations for the genetic determinants of diseases. Within the field of endocrinology, exome sequencing has led to major advancements in our understanding of many disorders including adrenal disease, growth and puberty disorders and type 2 diabetes mellitus, as well as a multitude of rare genetic syndromes with prominent endocrine involvement. In this Review, we provide an overview of these new insights and discuss the role that exome sequencing is expected to have in endocrine research and future clinical practice.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.