Evidence map›Paper›PMID 33552646›Full record

ArticleJournal of pediatric genetics2021

A Novel Frameshift Mutation in KAT6A Is Associated with Pancraniosynostosis.

Fady P Marji, Jennifer A Hall, Erin Anstadt, Suneeta Madan-Khetarpal, Jesse A Goldstein, Joseph E Losee

Abstract readCase Reports
In one paragraph

Article in Journal of pediatric genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Review
  5. 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

6 authors.

Fady P MarjiDepartment of Plastic Surgery and Reconstructive Surgery, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States.ORCID 0000-0001-9563-6316
Jennifer A HallDepartment of Plastic Surgery and Reconstructive Surgery, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States.
Erin AnstadtDepartment of Plastic Surgery and Reconstructive Surgery, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States.
Suneeta Madan-KhetarpalDepartment of Genetics, Center for Clinical Genetics and Genomics, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States.
Jesse A GoldsteinDepartment of Plastic Surgery and Reconstructive Surgery, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States.
Joseph E LoseeDepartment of Plastic Surgery and Reconstructive Surgery, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

De novo heterozygous mutations in the

Indexed as

KAT6A syndromepancraniosynostosiswhole exome sequencing

Identifiers

PMID33552646
PMCPMC7853917

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.