Evidence map›Paper›PMID 24953221›Full record

ArticleAmerican journal of medical genetics. Part A2014

Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1.

Bing Li, Deborah Krakow, Deborah A Nickerson, Michael J Bamshad, University of Washington Center for Mendelian Genomics, Yong Chang, Ralph S Lachman, Alev Yilmaz, Hülya Kayserili, Daniel H Cohn

Open access · greenAbstract readCase ReportsLetter
In one paragraph

Article in American journal of medical genetics. Part A, 2014. 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
0.6field-weighted citation impact, top 31% 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, 16 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
  4. Article
  5. A Case of Opsismodysplasia with a NovelMolecular syndromology · 2025
    Article
  6. Article
  7. Prenatal-onsetClinical case reports · 2021
    Article
  8. Article
  9. Article
  10. INPPL1 gene mutations in opsismodysplasia.Journal of human genetics · 2017
    Review
  11. Article
  12. 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

10 authors at 3 institutions in 2 countries.

Bing LiDepartment of Molecular, Cell and Developmental Biology, University of California Los Angeles, Los Angeles, California.
Deborah Krakow
Deborah A Nickerson
Michael J Bamshad
University of Washington Center for Mendelian Genomics
Yong Chang
Ralph S Lachman
Alev Yilmaz
Hülya Kayserili
Daniel H Cohn
University of California, Los Angeles · USIstanbul University · TRUniversity of Washington · US

Funding

UW Center for Mendelian GenomicsU54HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, NICKERSON, DEBORAH A · 2012 to 2015
$20.0M
UW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3M
Short-rib polydactyly and the skeletal ciliopathiesR01DE019567 · NIDCR · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI COHN, DANIEL H, KRAKOW, DEBORAH · 2009 to 2019
$3.5M
Exome sequencing in the skeletal dysplasiasR01AR062651 · NIAMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI COHN, DANIEL H · 2013 to 2017
$1.7M
NHGRI NIH HHS 1U54HG006493NHGRI NIH HHS U54 HG006493NHGRI NIH HHS UM1 HG006493NIAMS NIH HHS AR062651NIAMS NIH HHS R01 AR062651NIDCR NIH HHS DE019567NIDCR NIH HHS R01 DE019567
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

src Homology DomainsAdolescentAmino Acid SequenceBase SequenceChildChild, PreschoolFemaleHumansInfantMolecular Sequence DataMutagenesis, InsertionalMutationOsteochondrodysplasiasPhosphatidylinositol-3,4,5-Trisphosphate 5-PhosphatasesPhosphoric Monoester HydrolasesProtein StabilityINPPL1 protein, humanPhosphatidylinositol-3,4,5-Trisphosphate 5-PhosphatasesPhosphoric Monoester HydrolasesRNA Splice Sites

Identifiers

PMID24953221
PMCPMC4134718
OpenAlexW2033962484

What OpenQuestion holds

Textmetadata
LicenceTDM
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.