Evidence map›Paper›PMID 36158053›Full record

ArticleMolecular syndromology2022

Molecular Modeling and Phenotypic Description of a Patient with a Novel Exonic Deletion of

Pavalan Selvam, Angita Jain, Jessica Abbott, Abhimanyu S Ahuja, Anvir Cheema, Katelyn A Bruno, Herjot Atwal, Irman Forghani, Thomas Caulfield, Paldeep S Atwal

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular syndromology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.4field-weighted citation impact, top 43% 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

3 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Mucopolysaccharidosis IVA: Current Disease Models and Drawbacks.International journal of molecular sciences · 2023
    Review
  3. 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 4 institutions in 1 country.

Pavalan SelvamAtwal Clinic, Palm Beach, Florida, USA.
Angita JainAtwal Clinic, Palm Beach, Florida, USA.
Jessica AbbottAtwal Clinic, Palm Beach, Florida, USA.
Abhimanyu S AhujaCharles E. Schmidt College of Medicine, Florida Atlantic University, Boca Raton, Florida, USA.
Anvir CheemaAtwal Clinic, Palm Beach, Florida, USA.
Katelyn A BrunoMayo Clinic, Jacksonville, Florida, USA.
Herjot AtwalAtwal Clinic, Palm Beach, Florida, USA.
Irman ForghaniDr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida, USA.
Thomas CaulfieldMayo Clinic, Jacksonville, Florida, USA.
Paldeep S AtwalAtwal Clinic, Palm Beach, Florida, USA.
Palm Beach Neurology · USJacksonville College · USFlorida Atlantic University · USUniversity of Miami · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In this report, we describe phenotypic features of a patient with mucopolysaccharidosis type IVA (Morquio syndrome) harboring a novel exon 1 deletion in

Indexed as

Exon 1 deletionMorquio syndromePregnancy

Identifiers

PMID36158053
PMCPMC9421684
OpenAlexW4220715576

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.