Evidence map›Paper›PMID 39766333›Full record

ArticleBiomolecules2024

In-Depth Phenotyping of

Agnese Feresin, Mathilde Lefebvre, Emilie Sjøstrøm, Caterina Zanus, Elisa Paccagnella, Irene Bruno, Erica Valencic, Anna Morgan, Alberto Tommasini, Christel Thauvin and 3 more

Abstract readCase Reports
In one paragraph

Article in Biomolecules, 2024. 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

13 authors.

Agnese FeresinDepartment of Medicine, Surgery and Health Sciences, University of Trieste, 34127 Trieste, Italy.ORCID 0000-0002-4187-6282
Mathilde LefebvreSoFFoet, Société Française de Fœtopathologie, 75015 Paris, France.ORCID 0000-0002-9102-6884
Emilie SjøstrømDepartment of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, 4293 Dianalund, Denmark.ORCID 0009-0003-3669-8172
Caterina ZanusInstitute for Maternal and Child Health, IRCCS "Burlo Garofolo", 34137 Trieste, Italy.ORCID 0000-0001-7235-4965
Elisa PaccagnellaInstitute for Maternal and Child Health, IRCCS "Burlo Garofolo", 34137 Trieste, Italy.ORCID 0000-0002-1240-6513
Irene BrunoInstitute for Maternal and Child Health, IRCCS "Burlo Garofolo", 34137 Trieste, Italy.
Erica ValencicInstitute for Maternal and Child Health, IRCCS "Burlo Garofolo", 34137 Trieste, Italy.ORCID 0000-0002-7380-8014
Anna MorganInstitute for Maternal and Child Health, IRCCS "Burlo Garofolo", 34137 Trieste, Italy.ORCID 0000-0001-6290-445X
Alberto TommasiniDepartment of Medicine, Surgery and Health Sciences, University of Trieste, 34127 Trieste, Italy.ORCID 0000-0002-6943-7927
Christel ThauvinInserm-UB UMR 1231 GAD "Génétique des Anomalies du Développement", Fédération Hospitalo-Universitaire-TRANSLAD, 21000 Dijon, France.
Allan BayatDepartment of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, 4293 Dianalund, Denmark.ORCID 0000-0003-4986-8006
Giorgia GirottoDepartment of Medicine, Surgery and Health Sciences, University of Trieste, 34127 Trieste, Italy.ORCID 0000-0003-4507-6589
Luciana MusanteInstitute for Maternal and Child Health, IRCCS "Burlo Garofolo", 34137 Trieste, Italy.ORCID 0000-0002-2742-1484

Funding

Next Generation EU PNRR-MR1-2022-12376811
6 · The paper itself

Abstract

Glycosylphosphatidylinositol (GPI) biosynthesis defect 11 (GPIBD11), part of the heterogeneous group of congenital disorders of glycosylation, is caused by biallelic pathogenic variants in

Indexed as

PhenotypeChildChild, PreschoolChromosomes, Human, Pair 17Congenital Disorders of GlycosylationFemaleHumansInfantMaleMembrane ProteinsMembrane Proteins17q12 genomic disorderepilepsyfetusGPIBD11heart malformationPIGW

Identifiers

PMID39766333
PMCPMC11727550

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.