Evidence map›Paper›PMID 32349160›Full record

ArticleClinical genetics2020

A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability.

Michele Pinelli, Gaetano Terrone, Flavia Troglio, Gabriella Maria Squeo, Gerarda Cappuccio, Floriana Imperati, Piero Pignataro, Rita Genesio, Lucio Nitch, Ennio Del Giudice and 3 more

Open access · hybridAbstract readCase ReportsLetter
In one paragraph

Article in Clinical genetics, 2020. 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
0.5field-weighted citation impact, top 40% 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, 15 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. [Characteristics of early cognitive development in children with Williams syndrome: a prospective cohort study].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2024
    Article
  5. Deletion ofBiomedicines · 2023
    Article
  6. Article
  7. Williams syndrome.Nature reviews. Disease primers · 2021
    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

13 authors at 5 institutions in 1 country.

Michele PinelliDepartment of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.ORCID 0000-0002-5927-1185
Gaetano TerroneDepartment of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.
Flavia TroglioEuropean Institute of Oncology, IRCCS, Milan, Italy.
Gabriella Maria SqueoDivision of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
Gerarda CappuccioDepartment of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.ORCID 0000-0003-3934-2342
Floriana ImperatiDepartment of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.
Piero PignataroDepartment of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Naples, Italy.
Rita GenesioDepartment of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Naples, Italy.
Lucio NitchDepartment of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Naples, Italy.
Ennio Del GiudiceDepartment of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.
Giuseppe MerlaDivision of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.ORCID 0000-0001-5078-928X
Giuseppe TestaEuropean Institute of Oncology, IRCCS, Milan, Italy.
Nicola Brunetti-PierriDepartment of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.ORCID 0000-0002-6895-8819
Federico II University Hospital · ITUniversity of Naples Federico II · ITCasa Sollievo della Sofferenza · ITEuropean Institute of Oncology · ITUniversity of Milan · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

ChildChromosome DuplicationChromosomes, Human, Pair 7HumansIntellectual DisabilityMaleTranscription Factors, TFIIWilliams SyndromeGTF2I protein, humanTranscription Factors, TFII

Identifiers

PMID32349160
PMCPMC7318190
OpenAlexW3020374018

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.