ReviewThe application of clinical genetics2017
Review in The application of clinical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.
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
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 60 citations in OpenAlex.
- Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.Nature communications · 2018Pooled it
- A Case of Smith-Magenis Syndrome Undergoing Palatoplasty.Journal of plastic and reconstructive surgery · 2026Article
- Behavioral Phenotype and Neuropsychological Profile of an Adult With Smith-Magenis Syndrome due to a Previously UnreportedClinical case reports · 2026Article
- Current insights into PHF14: molecular features and functional roles.Frontiers in molecular biosciences · 2026Review
- Retinoic Acid Induced 1 and Smith-Magenis Syndrome: From Genetics to Biology and Possible Therapeutic Strategies.International journal of molecular sciences · 2025Review
- Deletion ofJournal of genetics · 2025Article
- Smith-Magenis syndrome with Dandy-Walker malformation in a 2-year-old girl: A case report.The Journal of international medical research · 2025Article
- Epigenetic Regulation and Neurodevelopmental Disorders: From MeCP2 to the TCF20/PHF14 Complex.Genes · 2024Review
- Clarifying main nutritional aspects and resting energy expenditure in children with Smith-Magenis syndrome.European journal of pediatrics · 2024Article
- NovelJournal of personalized medicine · 2024Article
- Case Report: A Case of a Patient with Smith-Magenis Syndrome and Early-Onset Parkinson's Disease.International journal of molecular sciences · 2024Article
- Article
- A case of Smith-Magenis syndrome with skin manifestations caused by a novel locus mutation in the RAI1 gene.The Journal of international medical research · 2023Article
- Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD): a collaborative review of the current understanding.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2023Review
- The developmental trajectory of sleep in children with Smith-Magenis syndrome compared to typically developing peers: a 3-year follow-up study.Sleep advances : a journal of the Sleep Research Society · 2023Article
- Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome.Cell death & disease · 2022Article
- Brain Organization and Human Diseases.Cells · 2022Review
- Review
- Caregivers' experience of sleep management in Smith-Magenis syndrome: a mixed-methods study.Orphanet journal of rare diseases · 2022Article
- Differentially expressed tRNA-derived fragments in bovine fetuses with assisted reproduction induced congenital overgrowth syndrome.Frontiers in genetics · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Smith-Magenis syndrome (SMS; OMIM #182290) is a complex genetic disorder characterized by distinctive physical features, developmental delay, cognitive impairment, and a typical behavioral phenotype. SMS is caused by interstitial 17p11.2 deletions, encompassing multiple genes and including the retinoic acid-induced 1 gene (
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.