ArticleNPJ genomic medicine2018
Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a
Article in NPJ genomic medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 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
67 citing papers in PubMed, 122 citations in OpenAlex.
- A coculture system of Epicoccum nigrum with Mucor racemosus induces red pigment biosynthesis in vinegar mash.Applied microbiology and biotechnology · 2026Article
- Draft-genome sequence ofMicrobiology resource announcements · 2026Article
- Long-read Sequencing in Inherited Retinal Dystrophies: A Systematic Review.Ophthalmology science · 2026Review
- Article
- Whole-genome and pan-genome analyses reveal genomic differences among nontypeableFrontiers in cellular and infection microbiology · 2026Article
- Isolation and Genome-Based Characterization ofMicroorganisms · 2025Article
- First fine mapping of a strain of Rhizoctonia Solani AG-3, causing tobacco target spot.BMC genomic data · 2025Article
- Unleashing the Power of Multiomics: Unraveling the Molecular Landscape of Peripheral Neuropathy.Annals of clinical and translational neurology · 2025Review
- Whole-Genome Sequencing ofJournal of fungi (Basel, Switzerland) · 2025Article
- Genomic Analysis ofGenes · 2024Article
- Comparative Genomic Analysis ofGenes · 2024Article
- Identification and Genome Sequencing of Novel Virulent Strains ofPathogens (Basel, Switzerland) · 2024Article
- Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand.NPJ genomic medicine · 2024Article
- Genomic and Transcriptomic Analyses Identify Two Key Glycosyltransferase GenesMicroorganisms · 2024Article
- Characteristics of Corynespora cassiicola, the causal agent of tobacco Corynespora leaf spot, revealed by genomic and metabolic phenomic analysis.Scientific reports · 2024Article
- Characterization and the first complete genome sequence of a novel strain of Bergeyella porcorum isolated from pigs in China.BMC microbiology · 2024Article
- Comparative Genome Analysis of TwoAnimals : an open access journal from MDPI · 2024Article
- Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus.BMC medical genomics · 2024Article
- Genome-wide survey of the bipartite structure and pathogenesis-related genes ofFrontiers in microbiology · 2024Article
- Long-read sequencing for brain tumors.Frontiers in oncology · 2024Review
7 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 4 institutions in 1 country.
Funding
Abstract
Bardet-Biedl syndrome (BBS) is a recessive disorder characterized by heterogeneous clinical manifestations, including truncal obesity, rod-cone dystrophy, renal anomalies, postaxial polydactyly, and variable developmental delays. At least 20 genes have been implicated in BBS, and all are involved in primary cilia function. We report a 1-year-old male child from Guyana with obesity, postaxial polydactyly on his right foot, hypotonia, ophthalmologic abnormalities, and developmental delay, which together indicated a clinical diagnosis of BBS. Clinical chromosomal microarray (CMA) testing and high-throughput BBS gene panel sequencing detected a homozygous 7p14.3 deletion of exons 1-4 of
Identifiers
What 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.