ReviewThe Clinical biochemist. Reviews2018
Genetic Testing in Endocrinology.
Review in The Clinical biochemist. Reviews, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
9 citing papers in PubMed.
- The GPCRDiabetologia · 2026Article
- Genetics of familial acromegaly and pituitary gigantism.The Journal of clinical endocrinology and metabolism · 2026Review
- Whole genome sequencing in adults with clinical hallmarks of hypophosphatasia negative for ALPL variants.Molecular biology reports · 2024Observational
- Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing.Acta diabetologica · 2024Article
- A Novel Germline Mutation ofInternational journal of molecular sciences · 2021Article
- Genetic testing in pediatric endocrine pathology.Medicine and pharmacy reports · 2021Article
- Phenotypes Associated With MEN1 Syndrome: A Focus on Genotype-Phenotype Correlations.Frontiers in endocrinology · 2020Review
- The Genomic Landscape of Sporadic Prolactinomas.Endocrine pathology · 2019Article
- Search for Novel Mutational Targets in Human Endocrine Diseases.Endocrinology and metabolism (Seoul, Korea) · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The recent genomic revolution, characterised by surges in the number of available genetic tests and known genetic associations, calls for improved genetic literacy amongst medical scientists and clinicians. This has been driven by next generation sequencing, a technology allowing multiple genes to be sequenced in parallel, thereby reducing the time and financial costs associated with genetic testing in both research and clinical settings. Endocrinology is an intuitive setting in which to consider the principles of genetic testing because endocrine disorders are due to defects in circumscribed pathways, providing clues to candidate genes. This article discusses genetic testing in contemporary endocrine practice with reference to examples of endocrine genetic disorders or multisystem genetic disorders with endocrine manifestations. Monogenic disorders are prioritised as these form the bulk of endocrine genetic disorders and the associated genetic testing is readily understandable, clinically available and practice-changing. Although it remains true that genetic testing should be embarked upon only if the result will alter management, the clinical utility of genetic testing is often underestimated and there are expanding indications for genetic testing across all areas of endocrinology.
Identifiers
30072819PMC6069737What OpenQuestion holds
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.