Evidence map›Paper›PMID 40677924›Full record

ArticleHuman mutation2025

Incorporating Nanopore Sequencing Into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti.

Simone Ahting, Denny Popp, Henry Oppermann, Vincent Strehlow, Maria Fasshauer, Bernt Popp, Maike Karnstedt, Isabell Schumann

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 2025. 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.

  1. 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.

Simone AhtingInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.ORCID 0000-0002-3384-5101
Denny PoppInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.ORCID 0000-0001-5656-2027
Henry OppermannInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Vincent StrehlowInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Maria FasshauerCenter for Pediatric and Adolescent Medicine, St. Georg Hospital Leipzig, Leipzig, Germany.
Bernt PoppInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Maike KarnstedtInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Isabell SchumannInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.ORCID 0000-0001-8354-2523

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Incontinentia pigmenti (IP) is a rare hereditary disorder affecting 1.2 in 100,000 live births, predominantly females. Genetic analysis of IP is complicated by a homologous pseudogene, making conventional short-read sequencing challenging. While long-range PCR is typically used to overcome this, skewed X-inactivation detection can also aid in assigning variants to

Indexed as

I-kappa B KinaseIncontinentia PigmentiNanopore SequencingExome SequencingFemaleHumansMalePedigreePseudogenesX Chromosome InactivationI-kappa B KinaseIKBKG protein, human

Identifiers

PMID40677924
PMCPMC12267976

What OpenQuestion holds

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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.