Evidence map›Paper›PMID 31191208›Full record

ArticleMolecular syndromology2019

Co-Occurrence of Leber Congenital Amaurosis and Meckel Syndrome Type 1 in a Fetus: Is There a Lesson to Be Learned?

Karthik Tallapaka, Shagun Aggarwal, Amrita Bhattacherjee, Aneek Das Bhowmik, Ashwin Dalal

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

Article in Molecular syndromology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 39% 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

1 citing paper in PubMed, 3 citations in OpenAlex.

  1. 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

5 authors at 2 institutions in 1 country.

Karthik TallapakaDepartment of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India.
Shagun AggarwalDepartment of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India.
Amrita BhattacherjeeDiagnostics Division, Centre for DNA Fingerprinting and Diagnostics (CDFD), Hyderabad, India.
Aneek Das BhowmikDiagnostics Division, Centre for DNA Fingerprinting and Diagnostics (CDFD), Hyderabad, India.
Ashwin DalalDepartment of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India.
Nizam's Institute of Medical Sciences · INCentre for DNA Fingerprinting and Diagnostics · IN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A patient referred for prenatal diagnostics, after first-trimester ultrasound due to a previous child with Leber congenital amaurosis, was suggestive of a Meckel syndrome-like phenotype. Fetal autopsy confirmed the multiple anomalies, and whole-exome sequencing of the fetal DNA identified a pathogenic variant in the

Indexed as

Exome sequencingLeber congenital amaurosisMeckel syndromeSecondary findings

Identifiers

PMID31191208
PMCPMC6528073
OpenAlexW2912397488

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.