ArticleThe Journal of investigative dermatology2015
Next-generation sequencing for mutation detection in heritable skin diseases: the paradigm of pseudoxanthoma elasticum.
Article in The Journal of investigative dermatology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 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.
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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.
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Who cites it
4 citing papers in PubMed, 12 citations in OpenAlex.
- Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders.BMC medical genomics · 2023Article
- Targeted NGS in Diagnostics of Genodermatosis Characterized by the Epidermolysis Bullosa Symptom Complex in 268 Russian Children.International journal of molecular sciences · 2022Article
- Infantile hemangioma: factors causing recurrence after propranolol treatment.Pediatric research · 2018Article
- Advances and Applications of Ion Torrent Personal Genome Machine in Cutaneous Squamous Cell Carcinoma Reveal Novel Gene Mutations.Materials (Basel, Switzerland) · 2016Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Next-generation sequencing applied either to the entire genome or to a subset, such as a whole exome, has revolutionized the search for pathogenic mutations in heritable diseases, including genodermatoses. In this issue, Hosen et al. applied whole-exome sequencing to identify potential pathogenic mutations in four candidate genes associated with pseudoxanthoma elasticum, the prototype of ectopic mineralization disorders. The study highlights the advantages of this approach over traditional Sanger sequencing, including expedience and cost, but it also illustrates some of the challenges encountered in implementing this rapidly evolving technology.
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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.