Evidence map›Paper›PMID 40386916›Full record

ArticleJournal of genetics2025

Deletion of

Uri Hamiel, Alina Kurolap, Chofit Chai Gadot, Adi Mory, Anat Bar Shira, Hagit Baris Feldman, Daphna Marom

Abstract readCase Reports
PubMed
In one paragraph

Article in Journal of genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

7 authors.

Uri HamielGenetics Institute and Genomics Center, Sourasky Medical Center, 6 Weizmann Street, 6423906 Tel Aviv, Israel. urihamiel@gmail.com.
Alina Kurolap
Chofit Chai Gadot
Adi Mory
Anat Bar Shira
Hagit Baris Feldman
Daphna Marom

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by developmental delay and a typical behavioral phenotype. Interstitial 17p11.2 deletions, which include the RAI1 gene are detected in >90% of patients, while single nucleotide variants (SNVs) are detected in the rest. The

Indexed as

ExonsSequence DeletionSmith-Magenis SyndromeTranscription FactorsChromosomes, Human, Pair 17HaploinsufficiencyHumansInfantTrans-ActivatorsRAI1 protein, humanTrans-ActivatorsTranscription Factors

Identifiers

PMID40386916

What OpenQuestion holds

Textmetadata
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.