ReviewOsteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA2014
Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery.
Review in Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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
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Who cites it
10 citing papers in PubMed, 21 citations in OpenAlex.
- Exploring genotype-phenotype correlation of a novel SHOX gene splicing variant: Langer mesomelic dysplasia or idiopathic short stature.Molecular biology reports · 2025Article
- Genetic Analysis Using a Next Generation Sequencing-Based Gene Panel in Patients With Skeletal Dysplasia: A Single-Center Experience.Frontiers in genetics · 2021Article
- Genetics for paediatric radiologists.Pediatric radiology · 2020Review
- Massively Parallel Sequencing for Rare Genetic Disorders: Potential and Pitfalls.Frontiers in endocrinology · 2020Review
- Genetic approaches to metabolic bone diseases.British journal of clinical pharmacology · 2019Review
- Expanding the phenome and variome of skeletal dysplasia.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- A look behind the scenes: the risk and pathogenesis of primary osteoporosis.Nature reviews. Rheumatology · 2015Review
- Review
- Sclerosing bone dysplasias: leads toward novel osteoporosis treatments.Current osteoporosis reports · 2014Review
- Lessons from next-generation sequencing in genetic skeletal disorders.BoneKEy reports · 2014Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In the last decade, huge breakthroughs in genetics-driven by new technology and different statistical approaches-have resulted in a plethora of new disease genes identified for both common and rare diseases. Massive parallel sequencing, commonly known as next-generation sequencing, is the latest advance in genetics, and has already facilitated the discovery of the molecular cause of many monogenic disorders. This article describes this new technology and reviews how this approach has been used successfully in patients with skeletal dysplasias. Moreover, this article illustrates how the study of rare diseases can inform understanding and therapeutic developments for common diseases such as osteoporosis.
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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.