Evidence map›Paper›PMID 30853971›Full record

ArticleFrontiers in genetics2019

The Role of

Fátima Lopes, Fátima Torres, Gabriela Soares, Clara D van Karnebeek, Cecília Martins, Diana Antunes, João Silva, Lauren Muttucomaroe, Luís Filipe Botelho, Susana Sousa and 5 more

Open access · goldAbstract read
In one paragraph

Article in Frontiers in genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.1field-weighted citation impact, top 21% 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

7 citing papers in PubMed, 10 citations in OpenAlex.

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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

15 authors at 7 institutions in 3 countries.

Fátima LopesSchool of Medicine, Life and Health Sciences Research Institute (ICVS), University of Minho, Braga, Portugal.
Fátima TorresCGC Genetics, Porto, Portugal.
Gabriela SoaresCenter for Medical Genetics Dr. Jacinto Magalhães, National Health Institute Dr. Ricardo Jorge, Porto, Portugal.
Clara D van KarnebeekDepartment of Pediatrics, Centre for Molecular Medicine, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada.
Cecília MartinsDepartment of Pediatrics, Médio Ave Hospital Center, Vila Nova de Famalicão, Portugal.
Diana AntunesMedical Genetics Department, Hospital D. Estefânia, Centro Hospitalar Lisboa Central, Lisbon, Portugal.
João SilvaCenter for Medical Genetics Dr. Jacinto Magalhães, National Health Institute Dr. Ricardo Jorge, Porto, Portugal.
Lauren MuttucomaroeDepartment of Pediatrics, University of British Columbia, Vancouver, BC, Canada.
Luís Filipe BotelhoDepartment of Neuroradiology, Hospital de Santo António, Porto Hospital Center, Porto, Portugal.
Susana SousaSchool of Medicine, Life and Health Sciences Research Institute (ICVS), University of Minho, Braga, Portugal.
Paula RendeiroCGC Genetics, Porto, Portugal.
Purificação TavaresCGC Genetics, Porto, Portugal.
Hilde Van EschLaboratories for Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
Evica Rajcan-SeparovicDepartment of Pathology, Children's Hospital of British Columbia, Vancouver, BC, Canada.
Patrícia MacielSchool of Medicine, Life and Health Sciences Research Institute (ICVS), University of Minho, Braga, Portugal.
University of Minho · PTCentro de Genética Clínica · PTUniversity of British Columbia · CABC Children's Hospital · CAHospital de Dona Estefânia · PTHospital de Santo António · PTUniversidade do Porto · PT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Microdeletions at 1q43-q44 have been described as resulting in a clinically recognizable phenotype of intellectual disability (ID), facial dysmorphisms and microcephaly (MIC). In contrast, the reciprocal microduplications of 1q43-q44 region have been less frequently reported and patients showed a variable phenotype, including macrocephaly. Reports of a large number of patients with copy number variations involving this region highlighted the

Indexed as

1q43-q44 CNVsAKT3macrocephalymicrocephalyphenotypic expressivitySDCCAG8ZBTB18

Identifiers

PMID30853971
PMCPMC6395382
OpenAlexW2917999310

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.