Evidence map›Paper›PMID 42650056›Full record

ArticleGenes2026

Discovery of Causative Genetic Variants in Patients with Congenital and/or Developmental Anomalies by Exome Sequencing.

Athina Theodosiou, Ludmila Kousoulidou, Ioannis Papaevripidou, Constantia Aristidou, Angelos Alexandrou, Andrea Hadjipanteli, Christina Votsi, Marios Tomazou, Styliana Menelaou, Demetris Efstathiou and 8 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

18 authors.

Athina TheodosiouDepartment of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2371 Nicosia, Cyprus.
Ludmila KousoulidouDepartment of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2371 Nicosia, Cyprus.
Ioannis PapaevripidouDepartment of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2371 Nicosia, Cyprus.
Constantia AristidouDepartment of Clinical Genetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2371 Nicosia, Cyprus.
Angelos AlexandrouDepartment of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2371 Nicosia, Cyprus.
Andrea HadjipanteliDepartment of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2371 Nicosia, Cyprus.ORCID 0009-0008-4401-7513
Christina VotsiDepartment of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2371 Nicosia, Cyprus.ORCID 0000-0002-5789-0919
Marios TomazouDepartment of Bioinformatics, The Cyprus Institute of Neurology and Genetics, 2371 Nicosia, Cyprus.ORCID 0000-0002-0836-5579
Styliana MenelaouDepartment of Bioinformatics, The Cyprus Institute of Neurology and Genetics, 2371 Nicosia, Cyprus.
Demetris EfstathiouLimassol General Hospital, 4131 Limassol, Cyprus.
Yiannis IoannouPediatric Neurology Clinic, Department of Paediatrics, Archbishop Makarios III Hospital, 2012 Nicosia, Cyprus.
Emilia AthanasiouUnit for Genetics and Endogenous Metabolic Disorders, Department of Paediatrics, Archbishop Makarios III Hospital, 2012 Nicosia, Cyprus.
Elena PapamichaelDepartment of Paediatrics, Archbishop Makarios III Hospital, 2012 Nicosia, Cyprus.
Violetta Christophidou-AnastasiadouGenetics Clinic, Karaiskakio Foundation, 2032 Nicosia, Cyprus.
Sofia OuraniUnit for Genetics and Endogenous Metabolic Disorders, Department of Paediatrics, Archbishop Makarios III Hospital, 2012 Nicosia, Cyprus.
Paola EvangelidouDepartment of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2371 Nicosia, Cyprus.ORCID 0000-0001-5565-0666
George A TantelesDepartment of Clinical Genetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2371 Nicosia, Cyprus.
Carolina SismaniDepartment of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2371 Nicosia, Cyprus.ORCID 0000-0002-9296-8347

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Congenital AbnormalitiesExome SequencingNeurodevelopmental DisordersChildChild, PreschoolCyprusExomeFemaleGenetic VariationHumansMaleMutationPhenotypeclinical exome sequencingcongenital anomaliesCyprusneurodevelopmental disorderswhole-exome sequencing

Identifiers

PMID42650056
PMCPMC13512218

What OpenQuestion holds

Textmetadata
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.