Evidence map›Paper›PMID 42650144›Full record

ArticleGenes2026

Rare-ID: Genomic Diagnosis in Symptomatic Neonates and Young Infants with Complex Clinical Phenotypes: A Descriptive Cohort Study.

Yannis L Loukas, Katherine Anagnostopoulou, Georgia Thodi, Maria Spanou, Christos Gavalas, Elina Molou, Stefania Antonopoulou, Antigoni Poulopoulou, Yannis Dotsikas, Maria Alvanou and 18 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

28 authors.

Yannis L LoukasSection of Pharmaceutical Chemistry, Department of Pharmacy, National and Kapodistrian University of Athens, Zografou, 15771 Athens, Greece.
Katherine AnagnostopoulouNeoscreen Molecular Diagnostic Laboratory, Vrilissia, 15235 Athens, Greece.
Georgia ThodiNeogenetics Molecular Diagnostic Laboratory, Vrilissia, 15235 Athens, Greece.
Maria SpanouPediatric Neurology Division, Third Department of Pediatrics, "Attikon" University Hospital, School of Medicine, National and Kapodistrian University of Athens, 12462 Athens, Greece.
Christos GavalasNeoscreen Molecular Diagnostic Laboratory, Vrilissia, 15235 Athens, Greece.
Elina MolouNeoscreen Molecular Diagnostic Laboratory, Vrilissia, 15235 Athens, Greece.
Stefania AntonopoulouNeogenetics Molecular Diagnostic Laboratory, Vrilissia, 15235 Athens, Greece.
Antigoni PoulopoulouNeogenetics Molecular Diagnostic Laboratory, Vrilissia, 15235 Athens, Greece.
Yannis DotsikasSection of Pharmaceutical Chemistry, Department of Pharmacy, National and Kapodistrian University of Athens, Zografou, 15771 Athens, Greece.ORCID 0000-0003-0882-8286
Maria AlvanouNeoscreen Molecular Diagnostic Laboratory, Vrilissia, 15235 Athens, Greece.
Konstantinos TegopoulosDepartment of Molecular Biology and Genetics, School of Health Sciences, Democritus University of Thrace, University Campus, Dragana, 68100 Alexandroupolis, Greece.ORCID 0009-0004-1977-4599
Roser PonsFirst Department of Pediatrics, Aghia Sophia Children's Hospital, School of Medicine, National and Kapodistrian University of Athens, 11527 Athens, Greece.
Konstantinos TziouvasPediatric Intensive Care Unit, P. & A. Kyriakou Children's Hospital, 11527 Athens, Greece.ORCID 0000-0002-6863-7708
Georgios VartzelisDepartment of Neurology, P. & A. Kyriakou Children's Hospital, 11527 Athens, Greece.
Eleni SkouteliPediatric Neurology, ELEPAP-Rehabilitation for the Disabled, 11634 Athens, Greece.
Eirini LoukatouDepartment of Pediatrics, Alexandra General Hospital, 11528 Athens, Greece.
Antonia CharitouDepartment of Pediatrics, REA Maternity Hospital, Palaio Faliro, 17564 Athens, Greece.
Konstantinos DourosPediatric Allergy and Respiratory Unit, Third Department of Pediatrics, "Attikon" University Hospital, School of Medicine, National and Kapodistrian University of Athens, 12462 Athens, Greece.ORCID 0000-0001-7632-1159
Soultana SiahanidouNeonatal Unit, First Department of Pediatrics, Aghia Sophia Children's Hospital, School of Medicine, National and Kapodistrian University of Athens, 11527 Athens, Greece.ORCID 0000-0001-8991-0649
Melpomene GiorgiPediatric Neurology Division, Third Department of Pediatrics, "Attikon" University Hospital, School of Medicine, National and Kapodistrian University of Athens, 12462 Athens, Greece.
Artemis StephanedePediatric Neurology Division, Third Department of Pediatrics, "Attikon" University Hospital, School of Medicine, National and Kapodistrian University of Athens, 12462 Athens, Greece.
Maria AngeliPediatric Neurology Division, Third Department of Pediatrics, "Attikon" University Hospital, School of Medicine, National and Kapodistrian University of Athens, 12462 Athens, Greece.ORCID 0000-0002-5707-0574
Maria NikolaidouPediatric Neurology Division, Third Department of Pediatrics, "Attikon" University Hospital, School of Medicine, National and Kapodistrian University of Athens, 12462 Athens, Greece.ORCID 0000-0001-6194-3860
Eleftheria KokkinouFirst Department of Pediatrics, Aghia Sophia Children's Hospital, School of Medicine, National and Kapodistrian University of Athens, 11527 Athens, Greece.
Ioanna KouriPediatric Neurology, MITERA Children's Hospital, 15123 Athens, Greece.
Vasiliki KouteDepartment of Pediatrics, University General Hospital of Larissa, Faculty of Medicine, University of Thessaly, 41110 Larissa, Greece.
Eleni FrysiraLaboratory of Medical Genetics, Choremio Research Laboratory, Aghia Sophia Children's Hospital, School of Medicine, National and Kapodistrian University of Athens, 11527 Athens, Greece.
Argirios DinopoulosPediatric Neurology Division, Third Department of Pediatrics, "Attikon" University Hospital, School of Medicine, National and Kapodistrian University of Athens, 12462 Athens, Greece.ORCID 0000-0001-8925-4338

Funding

General Secretariat for Research and Technology T1EDK-03332
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Exome SequencingWhole Genome SequencingCohort StudiesFemaleGenetic TestingGenomicsHumansInfantInfant, NewbornMaleNeonatal ScreeningPhenotypeclinical utilitygenomic diagnosisrare diseasesymptomatic neonateswhole-exome sequencingwhole-genome sequencingyoung infants

Identifiers

PMID42650144
PMCPMC13512880

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.