Evidence map›Paper›PMID 40225946›Full record

ReviewHuman mutation2024

Treatability of the KMT2-Associated Neurodevelopmental Disorders Using Antisense Oligonucleotide-Based Treatments.

Bianca Zardetto, Willeke van Roon-Mom, Annemieke Aartsma-Rus, Marlen C Lauffer

Abstract readReview
In one paragraph

Review in Human mutation, 2024. 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. Article
  2. Review
  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

4 authors.

Bianca ZardettoDutch Center for RNA Therapeutics Department of Human Genetics Leiden University Medical Center Leiden, Netherlands.ORCID 0000-0001-8355-5471
Willeke van Roon-MomDutch Center for RNA Therapeutics Department of Human Genetics Leiden University Medical Center Leiden, Netherlands.ORCID 0000-0002-3035-0533
Annemieke Aartsma-RusDutch Center for RNA Therapeutics Department of Human Genetics Leiden University Medical Center Leiden, Netherlands.ORCID 0000-0003-1565-654X
Marlen C LaufferDutch Center for RNA Therapeutics Department of Human Genetics Leiden University Medical Center Leiden, Netherlands.ORCID 0000-0003-1607-0428

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Neurodevelopmental disorders (NDDs) of genetic origin are a group of early-onset neurological diseases with highly heterogeneous etiology and a symptomatic spectrum that includes intellectual disability, autism spectrum disorder, and learning and language disorders. One group of rare NDDs is associated with dysregulation of the KMT2 protein family. Members of this family share a common methyl transferase function and are involved in the etiology of rare haploinsufficiency disorders. For each of the

Indexed as

Histone-Lysine N-MethyltransferaseMyeloid-Lymphoid Leukemia ProteinNeurodevelopmental DisordersOligonucleotides, AntisenseHumansHistone-Lysine N-MethyltransferaseMyeloid-Lymphoid Leukemia ProteinOligonucleotides, Antisense

Identifiers

PMID40225946
PMCPMC11925151

What OpenQuestion holds

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LicenceCC BY
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.