Evidence map›Paper›PMID 31641664›Full record

ArticleAutopsy & case reports

Prenatal presentation of a rare genetic disorder: a clinical, autopsy and molecular correlation.

Veronica Arora, Sunita Bijarnia-Mahay, Samarth Kulshreshtra, Kanika Singh, Ratna Dua Puri, Ishwar Chandar Verma

Open access · diamondAbstract readCase Reports
In one paragraph

Article in Autopsy & case reports. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 pooled it
0.7field-weighted citation impact, top 24% 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

4 citing papers in PubMed, 1 synthesis or guideline pooled it, 6 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Article
  4. 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 at 1 institution in 1 country.

Veronica AroraInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital. New Delhi, India.ORCID https://orcid.org/0000-0002-2874-2917
Sunita Bijarnia-MahayInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital. New Delhi, India.ORCID https://orcid.org/0000-0002-5255-8212
Samarth KulshreshtraInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital. New Delhi, India.ORCID https://orcid.org/0000-0001-6749-3661
Kanika SinghInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital. New Delhi, India.ORCID https://orcid.org/0000-0001-6491-976X
Ratna Dua PuriInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital. New Delhi, India.ORCID https://orcid.org/0000-0003-2694-6147
Ishwar Chandar VermaInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital. New Delhi, India.ORCID https://orcid.org/0000-0003-1944-5539
Sir Ganga Ram Hospital · IN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Walker Warburg syndrome (WWS) lies at the severe end of the spectrum of the congenital muscular dystrophies. WWS is a congenital disorder of the O-glycosylation that disrupts in the post-translation modification of dystroglycan proteins. WWS is characterized by the involvement of the central nervous system and rarely by multisystem involvement. Next-generation sequencing discovered that multiple genes are associated with this disorder.

Indexed as

Congenital Disorder of GlycosylationHydrocephalusWalker-Warburg Syndrome

Identifiers

PMID31641664
PMCPMC6771443
OpenAlexW2978438896

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.