Evidence map›Paper›PMID 33922911›Full record

ArticleInternational journal of molecular sciences2021

Biallelic Variants in

Antonella Riva, Antonella Gambadauro, Valeria Dipasquale, Celeste Casto, Maria Domenica Ceravolo, Andrea Accogli, Marcello Scala, Giorgia Ceravolo, Michele Iacomino, Federico Zara and 6 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in International journal of molecular sciences, 2021. 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
1.4field-weighted citation impact, top 18% 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, 11 citations in OpenAlex.

  1. Observational
  2. 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

16 authors at 2 institutions in 2 countries.

Antonella RivaUnit of Medical Genetics, IRCCS Giannina Gaslini Institute, Via Gerolamo Gaslini 5, 16147 Genoa, Italy.ORCID 0000-0001-9152-5571
Antonella GambadauroDepartment of Human Pathology in Adult and Developmental Age "Gaetano Barresi", Unit of Emergency Pediatric, University of Messina, Via Consolare Valeria 1, 98124 Messina, Italy.
Valeria DipasqualeDepartment of Human Pathology in Adult and Developmental Age "Gaetano Barresi", Unit of Emergency Pediatric, University of Messina, Via Consolare Valeria 1, 98124 Messina, Italy.
Celeste CastoDepartment of Human Pathology in Adult and Developmental Age "Gaetano Barresi", Unit of Emergency Pediatric, University of Messina, Via Consolare Valeria 1, 98124 Messina, Italy.
Maria Domenica CeravoloDepartment of Human Pathology in Adult and Developmental Age "Gaetano Barresi", Unit of Emergency Pediatric, University of Messina, Via Consolare Valeria 1, 98124 Messina, Italy.
Andrea AccogliUnit of Medical Genetics, IRCCS Giannina Gaslini Institute, Via Gerolamo Gaslini 5, 16147 Genoa, Italy.
Marcello ScalaDepartment of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Via Gerolamo Gaslini 5, 16147 Genoa, Italy.ORCID 0000-0003-2194-7239
Giorgia CeravoloDepartment of Human Pathology in Adult and Developmental Age "Gaetano Barresi", Unit of Emergency Pediatric, University of Messina, Via Consolare Valeria 1, 98124 Messina, Italy.
Michele IacominoUnit of Medical Genetics, IRCCS Giannina Gaslini Institute, Via Gerolamo Gaslini 5, 16147 Genoa, Italy.
Federico ZaraUnit of Medical Genetics, IRCCS Giannina Gaslini Institute, Via Gerolamo Gaslini 5, 16147 Genoa, Italy.
Pasquale StrianoDepartment of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Via Gerolamo Gaslini 5, 16147 Genoa, Italy.ORCID 0000-0002-6065-1476
Caterina CuppariDepartment of Human Pathology in Adult and Developmental Age "Gaetano Barresi", Unit of Emergency Pediatric, University of Messina, Via Consolare Valeria 1, 98124 Messina, Italy.
Gabriella Di RosaDepartment of Human Pathology in Adult and Developmental Age "Gaetano Barresi", Division of Child Neurology and Psychiatry, University of Messina, Via Consolare Valeria 1, 98124 Messina, Italy.
Maria Concetta CutrupiDepartment of Human Pathology in Adult and Developmental Age "Gaetano Barresi", Unit of Emergency Pediatric, University of Messina, Via Consolare Valeria 1, 98124 Messina, Italy.
Vincenzo SalpietroDepartment of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Via Gerolamo Gaslini 5, 16147 Genoa, Italy.ORCID 0000-0003-0132-7921
Roberto ChimenzDepartment of Human Pathology in Adult and Developmental Age "Gaetano Barresi, Unit of Pediatric Nephrology and Dialysis, University of Messina, Via Consolare Valeria 1, 98124 Messina, Italy.
University of Messina · ITIstituto Giannina Gaslini · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Microphthalmia, anophthalmia, and coloboma (MAC) are a group of congenital eye anomalies that can affect one or both eyes. Patients can present one or a combination of these ocular abnormalities in the so called "MAC spectrum". The

Indexed as

ChildColobomaFemaleGenetic VariationHumansInfantKinesinsMaleMicrophthalmosPedigreeKIF17 protein, humanKinesinscolobomacongenital eye defectsKIF17MAC spectrummicrophthalmia

Identifiers

PMID33922911
PMCPMC8123208
OpenAlexW3159549674

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.