Evidence map›Paper›PMID 41683698›Full record

ReviewInternational journal of molecular sciences2026

Clinical Presentation, Genetics, and Laboratory Testing with Integrated Genetic Analysis of Molecular Mechanisms in Prader-Willi and Angelman Syndromes: A Review.

Merlin G Butler

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in International journal of molecular sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Spinal muscular atrophy: Biology, pathogenesis, and therapeutic advances.Therapeutic advances in neurological disorders · 2026
    Review
  2. Article
  3. Article
4 · The record

Corrections and comments

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

5 · Who and what money

Authors and funding

1 author.

Merlin G ButlerDepartments of Psychiatry, Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, KS 66160, USA.ORCID 0000-0002-2911-0524

Funding

Elucidating the causes and consequences of sleep disturbances in children with rare genetic syndromesR21HD107535 · NICHD · UNIVERSITY OF KANSAS MEDICAL CENTER · PI BUTLER, MERLIN G, VEATCH, OLIVIA J · 2022 to 2023
$426k
NIH HHS R21 HD107535
6 · The paper itself

Abstract

Prader-Willi (PWS) and Angelman (AS) syndromes were the first examples in humans with errors in genomic imprinting, usually from de novo 15q11-q13 deletions of different parent origin (paternal in PWS and maternal in AS). Dozens of genes and transcripts are found in the 15q11-q13 region, and may play a role in PWS, specifically paternally expressed

Indexed as

Angelman SyndromePrader-Willi SyndromeChromosomes, Human, Pair 15Genetic TestingGenomic ImprintingHumansIntracellular Signaling Peptides and ProteinsIntrinsically Disordered ProteinsNuclear ProteinssnRNP Core ProteinsUbiquitin-Protein LigasesIntracellular Signaling Peptides and ProteinsIntrinsically Disordered ProteinsMAGEL2 protein, humanNuclear ProteinssnRNP Core ProteinsSNRPN protein, humanSNURF protein, humanUBE3A protein, humanUbiquitin-Protein Ligasescandidate or causative genes and defectsclinical presentationsclinical trials and treatment strategiesgenomic imprintingintegrated genetic analysis of predicted gene and protein interactionslaboratory testing and genetic counselingmolecular genetic classes of chromosome 15q11-q13 regionPrader–Willi and Angelman syndromesreview

Identifiers

PMID41683698
PMCPMC12898306

What OpenQuestion holds

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Registered trials

None linked

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.