ArticleHuman genome variation2017
Three brothers with a nonsense mutation in
Article in Human genome variation, 2017. 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, 14 citations in OpenAlex.
- Expanding the Clinical Spectrum of Arboleda-Tham Syndrome: Neuroimaging Findings and Hematologic Manifestations.Neurology. Genetics · 2026Article
- Diagnosis of Arboleda-Tham syndrome by whole-exome sequencing in an Asian girl with severe developmental delay.Molecular genetics & genomic medicine · 2024Article
- Epigenetic regulation of craniofacial development and disease.Birth defects research · 2024Review
- Clinical manifestations and genetic analysis of a newborn with Arboleda-Tham syndrome.Frontiers in genetics · 2022Article
- ATranslational pediatrics · 2021Article
- A Novel Frameshift Mutation in KAT6A Is Associated with Pancraniosynostosis.Journal of pediatric genetics · 2021Article
- Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum.Orphanet journal of rare diseases · 2020Article
- KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- A Novel De Novo Frameshift Mutation inJournal of pediatric genetics · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations 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.