Evidence map›Paper›PMID 35456440›Full record

ReviewGenes2022

MCPH1: A Novel Case Report and a Review of the Literature.

Stefano Giuseppe Caraffi, Marzia Pollazzon, Muhammad Farooq, Ambrin Fatima, Lars Allan Larsen, Roberta Zuntini, Manuela Napoli, Livia Garavelli

Open access · goldAbstract readCase ReportsReview
In one paragraph

Review in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.6field-weighted citation impact, top 37% 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

4 citing papers in PubMed, 7 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. 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

8 authors at 3 institutions in 3 countries.

Stefano Giuseppe CaraffiMedical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.ORCID 0000-0002-5033-7854
Marzia PollazzonMedical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.ORCID 0000-0002-9865-0751
Muhammad FarooqDepartment of Bioinformatics, Institute of Biochemistry, Biotechnology and Bioinformatics (IBBB), The Islamia University of Bahawalpur, Bahawalpur 63100, Pakistan.
Ambrin FatimaDepartment of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3B, 2200 Copenhagen, Denmark.
Lars Allan LarsenDepartment of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3B, 2200 Copenhagen, Denmark.ORCID 0000-0002-7536-1172
Roberta ZuntiniMedical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Manuela NapoliNeuroradiology Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Livia GaravelliMedical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Azienda Sanitaria Unità Locale di Reggio Emilia · ITUniversity of Copenhagen · DKAga Khan University · PK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Microcephaly primary hereditary (MCPH) is a congenital disease characterized by nonsyndromic reduction in brain size due to impaired neurogenesis, often associated with a variable degree of intellectual disability (ID). The genetic etiology of MCPH is heterogeneous and comprises more than 20 loci, nearly all following a recessive inheritance pattern. The first causative gene identified,

Indexed as

Intellectual DisabilityMicrocephalyCell Cycle ProteinsCytoskeletal ProteinsHomozygoteHumansSequence DeletionCell Cycle ProteinsCytoskeletal ProteinsMCPH1 protein, humanMCPH1microcephalyMRIsimplified gyral patternSNP array

Identifiers

PMID35456440
PMCPMC9032034
OpenAlexW4224311678

What Socratic 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 Socratic graph.