Evidence map›Paper›PMID 38976626›Full record

ReviewJournal of neurochemistry2024

DDX3X syndrome: From clinical phenotypes to biological insights.

Alexa von Mueffling, Marta Garcia-Forn, Silvia De Rubeis

Abstract readReview
In one paragraph

Review in Journal of neurochemistry, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing 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

9 citing papers in PubMed.

  1. Article
  2. The Great Escape: A Case Series onThe Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2026
    Article
  3. Article
  4. Article
  5. Article
  6. Diverse mechanisms of DDX3Y suppression by DDX3X.bioRxiv : the preprint server for biology · 2025
    Article
  7. Article
  8. TheFrontiers in medicine · 2025
    Review
  9. 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

3 authors.

Alexa von MuefflingSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York City, New York, USA.
Marta Garcia-FornSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York City, New York, USA.
Silvia De RubeisSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York City, New York, USA.ORCID 0000-0001-9383-6883

Funding

Cellular and molecular determinants of DDX3X syndromeR01HD104609 · NICHD · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI DE RUBEIS, SILVIA · 2021 to 2025
$2.8M
Eunice Kennedy Shriver National Institute of Child Health and Human Development R01HD104609NICHD NIH HHS R01 HD104609
6 · The paper itself

Abstract

DDX3X syndrome is a neurodevelopmental disorder accounting for up to 3% of cases of intellectual disability (ID) and affecting primarily females. Individuals diagnosed with DDX3X syndrome can also present with behavioral challenges, motor delays and movement disorders, epilepsy, and congenital malformations. DDX3X syndrome is caused by mutations in the X-linked gene DDX3X, which encodes a DEAD-box RNA helicase with critical roles in RNA metabolism, including mRNA translation. Emerging discoveries from animal models are unveiling a fundamental role of DDX3X in neuronal differentiation and development, especially in the neocortex. Here, we review the current knowledge of genetic and neurobiological mechanisms underlying DDX3X syndrome and their relationship with clinical phenotypes.

Indexed as

DEAD-box RNA HelicasesIntellectual DisabilityAnimalsHumansMutationNeurodevelopmental DisordersPhenotypeDDX3X protein, humanDEAD-box RNA Helicasesautism spectrum disordercortical developmentDDX3X syndromeDEAD/DEAH‐box RNA helicasesintellectual disabilityneurodevelopment

Identifiers

PMID38976626
PMCPMC11449660

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

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.