Evidence map›Paper›PMID 30538663›Full record

ArticleFrontiers in neurology2018

Recurrence and Familial Inheritance of Intronic

Maura Masciadri, Anna Ficcadenti, Donatella Milani, Francesca Cogliati, Maria Teresa Divizia, Lidia Larizza, Silvia Russo

Abstract readCase Reports
In one paragraph

Article in Frontiers in neurology, 2018. 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
–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

3 citing papers in PubMed.

  1. Genes · 2022
    Review
  2. Article
  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

7 authors.

Maura MasciadriLaboratorio di Ricerche di Citogenetica Medica e Genetica Molecolare, Istituto Auxologico Italiano (IRCCS) Milan, Italy.
Anna FiccadentiCentro Regionale Malattie Rare, Azienda Ospedaliero Universitaria Ospedali Riuniti Ancona, Italy.
Donatella MilaniPediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IRCCS) Milan, Italy.
Francesca CogliatiLaboratorio di Ricerche di Citogenetica Medica e Genetica Molecolare, Istituto Auxologico Italiano (IRCCS) Milan, Italy.
Maria Teresa DiviziaUOC Genetica Medica, Istituto Giannina Gaslini (IRCCS) Genoa, Italy.
Lidia LarizzaLaboratorio di Ricerche di Citogenetica Medica e Genetica Molecolare, Istituto Auxologico Italiano (IRCCS) Milan, Italy.
Silvia RussoLaboratorio di Ricerche di Citogenetica Medica e Genetica Molecolare, Istituto Auxologico Italiano (IRCCS) Milan, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Splicing pathogenic variants account for a notable fraction of

Indexed as

Cornelia de Langefamilial inheritanceintronic variantmild phenotyperecurrent variant

Identifiers

PMID30538663
PMCPMC6277459

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.