Evidence map›Paper›PMID 32447323›Full record

ArticleJournal of medical genetics2021

Paternal 132 bp deletion affecting

Thomas Eggermann, Florian Kraft, Eva Lausberg, Katrin Ergezinger, Erdmute Kunstmann

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Journal of medical genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
1.4field-weighted citation impact, top 18% 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

8 citing papers in PubMed, 13 citations in OpenAlex.

  1. Population-scale detection of methylation outliers from long-read genome sequencing.medRxiv : the preprint server for health sciences · 2026
    Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. A 132 bp deletion affecting theJournal of medical genetics · 2023
    Article
  7. Article
  8. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

5 authors at 2 institutions in 1 country.

Thomas EggermannInstitute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Nordrhein-Westfalen, Germany teggermann@ukaachen.de.ORCID 0000-0002-8419-0264
Florian KraftInstitute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Nordrhein-Westfalen, Germany.ORCID 0000-0002-5324-9155
Eva LausbergInstitute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Nordrhein-Westfalen, Germany.
Katrin ErgezingerChildren's Hospital, University of Würzburg, Würzburg, Germany.
Erdmute KunstmannInstitute of Human Genetics, University of Würzburg, Würzburg, Germany.
RWTH Aachen University · DEUniversity of Würzburg · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe chromosomal region 11p15.5 harbours two imprinting centres ( METHODS AND

resultsWe identified a family with a 132 bp deletion within the

conclusionMicrodeletions within the paternal IC2 affecting the

Indexed as

Beckwith-Wiedemann SyndromeChild, PreschoolChromosomes, Human, Pair 11DNA Copy Number VariationsDNA MethylationFemaleGenetic Predisposition to DiseaseGenomic ImprintingGermanyGrowth DisordersHumansInfantInsulin-Like Growth Factor IIKCNQ1 Potassium ChannelPedigreePotassium Channels, Voltage-GatedH19 long non-coding RNAIGF2 protein, humanInsulin-Like Growth Factor IIKCNQ1OT1 long non-coding RNA, humanKCNQ1 Potassium ChannelKCNQ1 protein, humanPotassium Channels, Voltage-GatedRNA, Long Noncodingcopy-numbergeneticsimprinting

Identifiers

PMID32447323
OpenAlexW3026113831

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.