Evidence map›Paper›PMID 29301908›Full record

ArticleGenetics2018

Deletion of a Long-Range

Kenneth R Johnson, Leona H Gagnon, Cong Tian, Chantal M Longo-Guess, Benjamin E Low, Michael V Wiles, Amy E Kiernan

Open access · bronzeAbstract read
In one paragraph

Article in Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
1.9field-weighted citation impact, top 14% 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

12 citing papers in PubMed, 27 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Review
  5. Article
  6. Interpreting the impact of noncoding structural variation in neurodevelopmental disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2021
    Review
  7. Article
  8. Article
  9. Review
  10. Article
  11. Review
  12. Review
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

7 authors at 2 institutions in 1 country.

Kenneth R JohnsonThe Jackson Laboratory, Bar Harbor, Maine 04609 ken.johnson@jax.org.ORCID 0000-0002-0448-2604
Leona H GagnonThe Jackson Laboratory, Bar Harbor, Maine 04609.
Cong TianThe Jackson Laboratory, Bar Harbor, Maine 04609.
Chantal M Longo-GuessThe Jackson Laboratory, Bar Harbor, Maine 04609.
Benjamin E LowTechnology Evaluation and Development, The Jackson Laboratory, Bar Harbor, Maine 04609.
Michael V WilesTechnology Evaluation and Development, The Jackson Laboratory, Bar Harbor, Maine 04609.
Amy E KiernanDepartment of Ophthalmology, University of Rochester, New York 14642.
Jackson Laboratory · USUniversity of Rochester · US

Funding

Shared Resource ManagementP30CA034196 · NCI · JACKSON LABORATORY · PI William Carl Skarnes · 1985 to 2026
$61.9M
CLONING TWO NEW DEAFNESS MUTATIONSR01DC004301 · NIDCD · JACKSON LABORATORY · PI JOHNSON, KENNETH R · 2000 to 2017
$8.6M
Sensory Organ Formation in the Inner EarR01DC009250 · NIDCD · UNIVERSITY OF ROCHESTER · PI KIERNAN, AMY · 2009 to 2019
$3.8M
NCI NIH HHS P30 CA034196NIDCD NIH HHS R01 DC004301NIDCD NIH HHS R01 DC009250
6 · The paper itself

Abstract

Distal enhancers are thought to play important roles in the spatiotemporal regulation of gene expression during embryonic development, but few predicted enhancer elements have been shown to affect transcription of their endogenous genes or to alter phenotypes when disrupted. Here, we demonstrate that a 123.6-kb deletion within the mouse

Indexed as

Enhancer Elements, GeneticSequence DeletionAnimalsChromosome MappingChromosomes, Human, Pair 7CRISPR-Cas SystemsEar, InnerFemaleGenotypeHeterozygoteHomeodomain ProteinsHumansMiceMice, KnockoutMutationPhenotypeDlx5 protein, mouseHomeodomain ProteinsProteasome Endopeptidase ComplexSEM1 protein, humandistal enhancerDlx5inner earSHFM1Slc25a13

Identifiers

PMID29301908
PMCPMC5844329
OpenAlexW2782013036

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.