ArticleNature genetics2014
Enhancer mutations and phenotype modularity.
Article in Nature genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 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
16 citing papers in PubMed, 25 citations in OpenAlex.
- Genetic Variants Associated with Suspected Neonatal Hypoxic Ischaemic Encephalopathy: A Study in a South African Context.International journal of molecular sciences · 2025Article
- A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.Nature communications · 2024Article
- A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.medRxiv : the preprint server for health sciences · 2023Article
- Pancreas agenesis mutations disrupt a lead enhancer controlling a developmental enhancer cluster.Developmental cell · 2022Article
- Comparison of chromatin accessibility landscapes during early development of prefrontal cortex between rhesus macaque and human.Nature communications · 2022Article
- Classification of non-coding variants with high pathogenic impact.PLoS genetics · 2022Article
- Genome Editing Human Pluripotent Stem Cells to Model β-Cell Disease and Unmask Novel Genetic Modifiers.Frontiers in endocrinology · 2021Review
- Enhancer RNAs predict enhancer-gene regulatory links and are critical for enhancer function in neuronal systems.Nucleic acids research · 2020Article
- A Non-Coding Disease Modifier of Pancreatic Agenesis Identified by Genetic Correction in a Patient-Derived iPSC Line.Cell stem cell · 2020Article
- Regulatory genome variants in human susceptibility to infection.Human genetics · 2020Review
- Mapping theProceedings of the National Academy of Sciences of the United States of America · 2020Article
- The human noncoding genome defined by genetic diversity.Nature genetics · 2018Article
- Human gene essentiality.Nature reviews. Genetics · 2018Review
- Imbalance-Aware Machine Learning for Predicting Rare and Common Disease-Associated Non-Coding Variants.Scientific reports · 2017Article
- A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.American journal of human genetics · 2016Article
- ChromContact: A web tool for analyzing spatial contact of chromosomes from Hi-C data.BMC genomics · 2015Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Only a few mutations in regulatory elements that cause human disease have been identified thus far. A new report identifies cis-regulatory mutations that abolish the activity of a developmental enhancer, thereby causing pancreatic agenesis.
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.