Evidence map›Paper›PMID 36396431›Full record

ArticleCold Spring Harbor molecular case studies2022

Germline mosaicism in a family with

Mehak Bhatia, Gianpiero L Cavalleri, Máire White, Norman Delanty, Brian J Sweeney, Daniel J Costello, Marie T Greally, Katherine A Benson

Open access · diamondAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cold Spring Harbor molecular case studies, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Familial p.(Ala73Thr) Variant inClinical case reports · 2026
    Article
  2. 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

8 authors at 3 institutions in 1 country.

Mehak BhatiaSchool of Medicine, Royal College of Surgeons in Ireland, Dublin, DO2 VN51, Ireland.
Gianpiero L CavalleriSchool of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin, DO2 VN51, Ireland.
Máire WhiteFutureNeuro Research Centre, Dublin, DO2 VN51, Ireland.
Norman DelantySchool of Medicine, Royal College of Surgeons in Ireland, Dublin, DO2 VN51, Ireland.
Brian J SweeneyEpilepsy Service, Cork University Hospital and College of Medicine and Health, University Hospital Cork, Cork, T12 YE02, Ireland.
Daniel J CostelloEpilepsy Service, Cork University Hospital and College of Medicine and Health, University Hospital Cork, Cork, T12 YE02, Ireland.
Marie T Greally *School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin, DO2 VN51, Ireland.
Katherine A Benson *School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin, DO2 VN51, Ireland.
Neuromod (Ireland) · IECork University Hospital · IERoyal College of Surgeons in Ireland · IE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Haploinsufficiency of the methyl-CpG-binding domain protein 5 (

Indexed as

Intellectual DisabilityNeurodevelopmental DisordersDNA-Binding ProteinsHaploinsufficiencyHumansMosaicismDNA-Binding ProteinsMBD5 protein, humangeneralized tonic seizuresintellectual disability, mildintellectual disability, moderate

Identifiers

PMID36396431
PMCPMC9808559
OpenAlexW4309232485

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.