Evidence map›Paper›PMID 38188501›Full record

ArticleFrontiers in genetics2023

Case report: Complete paternal isodisomy on chromosome 18 induces methylation changes in

Johanna Moch, Maximilian Radtke, Janina Gburek-Augustat, Maike Karnstedt, Senta Schönnagel, Stephan H Drukewitz, Laura Pilgram, Julia Hentschel, Isabell Schumann

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.3field-weighted citation impact, top 30% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. 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

9 authors at 2 institutions in 1 country.

Johanna MochInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Maximilian RadtkeInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Janina Gburek-AugustatDivision of Neuropaediatrics, Hospital for Children and Adolescents, University of Leipzig Medical Center, Leipzig, Germany.
Maike KarnstedtInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Senta SchönnagelInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Stephan H DrukewitzInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Laura PilgramInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Julia Hentschel *Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Isabell Schumann *Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Leipzig University · DEUniversity Hospital Leipzig · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Uniparental disomy (UPD) is the inheritance of both alleles of a chromosome from only one parent. So far, the detection of UPDs in sequencing data is not well established and a known gap in next-generation sequencing (NGS) diagnostics. By developing a new tool for UPD detection, we re-evaluated an eight-year-old individual presenting with scoliosis, muscle weakness and global developmental delay. Previous panel analysis identified a homozygous likely pathogenic loss-of-function variant in the

Indexed as

allele frequencycase reportgene regulationimprintingmethylomenext-generation-sequencinguniparental disomy

Identifiers

PMID38188501
PMCPMC10768175
OpenAlexW4390055738

What OpenQuestion holds

Textmetadata
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.