ArticleJournal of medical genetics2017
Article in Journal of medical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 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
11 citing papers in PubMed, 15 citations in OpenAlex.
- Clinical and Molecular Characterization of a RASopathy Cohort From Türkiye and an AMMECR1-Related Noonan Syndrome-Mimicking Phenotype.Clinical genetics · 2026Article
- A Second Report of a Missense Variant in AMMECR1 Causing Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis: Case Report and Literature Review.Clinical genetics · 2026Review
- Review of childhood genetic nephrolithiasis and nephrocalcinosis.Frontiers in genetics · 2024Review
- Clinical Features in Patients with Xq23 Microdeletion: A Case Report and Literature ReviewJournal of clinical research in pediatric endocrinology · 2022Article
- Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1.American journal of medical genetics. Part A · 2022Article
- Case Report: Contiguous Xq22.3 Deletion Associated with ATS-ID Syndrome: From Genotype to Further Delineation of the Phenotype.Frontiers in genetics · 2021Article
- A male infant with Xq22.2q22.3 duplication containing PLP1 and MID2.Molecular genetics & genomic medicine · 2020Article
- Dosage analysis of the 7q11.23 Williams region identifiesScience advances · 2019Article
- Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Genetic interactions between the chromosome axis-associated protein Hop1 and homologous recombination determinants in Schizosaccharomyces pombe.Current genetics · 2018Article
- New developments in the genetic diagnosis of short stature.Current opinion in pediatrics · 2018Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundDeletions in the Xq22.3-Xq23 region, inclusive of
methodsWhole exome sequencing was undertaken on maternal half-siblings. In-house genomic analysis included extraction of all shared variants on the X chromosome in keeping with X-linked inheritance. Patient-specific mutants were transfected into three cell lines and microscopically visualised to assess the nuclear expression pattern of the mutant protein.
resultsIn the affected half-brothers, we identified a hemizygous novel non-synonymous variant of unknown significance in
conclusionsOur study shows that a single missense mutation in
Indexed as
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.