Possible underreporting of pathogenic variants in RAI1 causing Smith-Magenis syndrome.

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.

1. Genetic variants of the leptin-melanocortin pathway in a clinically selected Greek cohort with severe early-onset obesity and hyperphagia: implications for precision obesity medicine.Obesity pillars · 2026
   Article
2. CRISPR screening identifies TRIM27 as a destabilizer of the Smith-Magenis syndrome protein RAI1.Genetics · 2026
   Article
3. Behavioral Phenotype and Neuropsychological Profile of an Adult With Smith-Magenis Syndrome due to a Previously UnreportedClinical case reports · 2026
   Article
4. Investigating food-related behaviors in Smith-Magenis syndrome: tailoring a questionnaire for a rare disease.Journal of rare diseases (Berlin, Germany) · 2026
   Article
5. Smith-Magenis syndrome protein RAI1 regulates body weight homeostasis through hypothalamic BDNF-producing neurons and neurotrophin downstream signalling.eLife · 2023
   Article
6. Intellectual and Behavioral Phenotypes of Smith-Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and PathogenicGenes · 2023
   Review
7. Loss ofProceedings of the National Academy of Sciences of the United States of America · 2022
   Article
8. Smith-Magenis Syndrome-Clinical Review, Biological Background and Related Disorders.Genes · 2022
   Review
9. Possible underreporting of pathogenic variants in RAI1 causing Smith-Magenis syndrome.American journal of medical genetics. Part A · 2021
   Article
10. Methylphenidate for attention-deficit/hyperactivity disorder in patients with Smith-Magenis syndrome: protocol for a series of N-of-1 trials.Orphanet journal of rare diseases · 2021
    Article
11. Investigation of setmelanotide, an MC4R agonist, for obesity in individuals with Smith-Magenis syndrome.Obesity research & clinical practice
    Article

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

Authors and funding

5 authors at 3 institutions in 2 countries.

Funding

No grant is acknowledged in the PubMed record.

Abstract

PubMed holds no abstract for this paper.

Indexed as