Evidence map›Paper›PMID 36553323›Full record

ArticleChildren (Basel, Switzerland)2022

Prenatal Identification of a Novel Mutation in the

Ioannis Papoulidis, Makarios Eleftheriades, Emmanouil Manolakos, Michael B Petersen, Simoni Marina Liappi, Anastasia Konstantinidou, Maria Papamichail, Vassilios Papadopoulos, Antonios Garas, Sotirios Sotiriou and 3 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in Children (Basel, Switzerland), 2022. 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
0.8field-weighted citation impact, top 32% 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, 8 citations in OpenAlex.

  1. Review
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  3. Article
  4. Review
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  6. Article
  7. DNA damage and repair: underlying mechanisms leading to microcephaly.Frontiers in cell and developmental biology · 2023
    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 4 institutions in 2 countries.

Ioannis PapoulidisAccess to Genome P.C., Clinical Laboratory Genetics, Lampsakou 11, 11528 Thessaloniki, Greece.
Makarios EleftheriadesSecond Department of Obstetrics and Gynaecology, Aretaieion Hospital, Medical School, National and Kapodistrian University of Athens, 112527 Athens, Greece.ORCID 0000-0003-4967-2505
Emmanouil ManolakosAccess to Genome P.C., Clinical Laboratory Genetics, Lampsakou 11, 11528 Thessaloniki, Greece.
Michael B PetersenAccess to Genome P.C., Clinical Laboratory Genetics, Lampsakou 11, 11528 Thessaloniki, Greece.
Simoni Marina LiappiAccess to Genome P.C., Clinical Laboratory Genetics, Lampsakou 11, 11528 Thessaloniki, Greece.
Anastasia Konstantinidou1st Department of Pathology, School of Medicine, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Maria PapamichailPostgraduate Programme "Maternal Fetal Medicine", Medical School, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Vassilios PapadopoulosDepartment of Obstetrics & Gynecology, University of Patra, 26500 Patras, Greece.
Antonios GarasDepartment of Gynecology, Larissa Medical School, University of Thessaly, 38221 Larissa, Greece.
Sotirios SotiriouDepartment of Clinical Embryology, Larissa Medical School, University of Thessaly, 41334 Larissa, Greece.ORCID 0000-0002-9466-6086
Ioannis PapastefanouFetal Medicine Clinic, Monis Petraki 4, Kolonaki, 11521 Athens, Greece.ORCID 0000-0002-7969-1435
Georgios DaskalakisFirst Department of Obstetrics and Gynaecology, "Alexandra" Maternity Hospital, Medical School, National and Kapodistrian University of Athens, 15772 Athens, Greece.
Aleksandar RisticObstetric and Gynecological Clinic Narodni Front, 11000 Belgrade, Serbia.
National and Kapodistrian University of Athens · GRUniversity of Thessaly · GRUniversity of Cagliari · ITUniversity of Patras · GR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

background

methodsIn this article, a family with two affected fetuses presenting a mutation of the

resultsIn this case, the fetuses had a novel homozygous mutation of the

conclusionOur findings portray an association between the new

Indexed as

homozygous MCPH1 mutationmicrocephalin genemicrocephalyNext Generation Sequencing

Identifiers

PMID36553323
PMCPMC9776937
OpenAlexW4311051352

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.