Evidence map›Paper›PMID 36635061›Full record

ArticleJournal of medical genetics2023

Christina Lam, Kaitlyn M Gilliam, Layne N Rodden, Kimberly A Schadt, David R Lynch, Sanjay Bidichandani

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

Article in Journal of medical genetics, 2023. 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
0.4field-weighted citation impact, top 44% of its field
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. Long-read sequencing for neurological disorders: opportunities, challenges, and future directions.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
    Review
  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

6 authors at 2 institutions in 1 country.

Christina LamDepartment of Pediatrics, The University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA.
Kaitlyn M GilliamDepartment of Pediatrics, The University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA.
Layne N RoddenDepartment of Pediatrics, The University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA.
Kimberly A SchadtDepartment of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
David R LynchDepartment of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Sanjay BidichandaniDepartment of Pediatrics, The University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA sanjay-bidichandani@ouhsc.edu.ORCID 0000-0001-6191-6475
Children's Hospital of Philadelphia · USUniversity of Oklahoma Health Sciences Center · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundFriedreich ataxia (FRDA) is typically caused by homozygosity for an expanded GAA triplet-repeat (GAA-TRE) in intron 1 of the

objectiveWe explored if the FRDA differentially methylated region (FRDA-DMR) in intron 1, which is hypermethylated in

methods

resultsFRDA-DMR methylation effectively identified a cohort of known heterozygous carriers of the GAA-TRE. In an individual with clinical features of FRDA, commercial testing showed a paternally inherited pathogenic

conclusion

Indexed as

Friedreich AtaxiaDNA MethylationHomozygoteHumansIntronsTrinucleotide Repeat ExpansionDNA MethylationDNA Repeat ExpansionMovement Disorders

Identifiers

PMID36635061
PMCPMC10423546
OpenAlexW4315710035

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.