Evidence map›Paper›PMID 37857482›Full record

ArticleJournal of medical genetics2024

Loss-of-function variants in

Solveig Heide, Emanuela Argilli, Stéphanie Valence, Lucile Boutaud, Nathalie Roux, Cyril Mignot, Caroline Nava, Boris Keren, Kim Giraudat, Anne Faudet and 12 more

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of medical genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
1.7field-weighted citation impact, top 13% 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

1 citing paper in PubMed, 3 citations in OpenAlex.

  1. 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

22 authors at 8 institutions in 4 countries.

Solveig Heide *Department of Genetics and Referral Center for Intellectual disabilities of rare causes, AP-HP.Sorbonne Université, Assistance Publique-Hopitaux de Paris, Pitié-Salpêtrière Hospital, Paris, 75013, France, Paris, France solveig.heide@aphp.fr.ORCID 0000-0002-4673-9762
Emanuela Argilli *Department of Neurology, University of California San Francisco Division of Hospital Medicine, San Francisco, California, USA.
Stéphanie ValenceDepartment of Neuropediatry & Referral Center for Intellectual disabilities of rare causes, AP-HP.Sorbonne Université, Hopital Armand-Trousseau, Paris, France.
Lucile BoutaudGenomic medicine of rare diseases, UF MP5, Hopital universitaire Necker-enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France.
Nathalie RouxGenomic medicine of rare diseases, UF MP5, Hopital universitaire Necker-enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France.
Cyril MignotDepartment of Genetics and Referral Center for Intellectual disabilities of rare causes, AP-HP.Sorbonne Université, Assistance Publique-Hopitaux de Paris, Pitié-Salpêtrière Hospital, Paris, 75013, France, Paris, France.
Caroline NavaDepartment of Genetics, Unit of Developmental Genomics, AP-HP.Sorbonne Université, Pitié-Salpêtrière Hospital, Paris, France.
Boris KerenDepartment of Genetics, Unit of Developmental Genomics, AP-HP.Sorbonne Université, Pitié-Salpêtrière Hospital, Paris, France.
Kim GiraudatDepartment of Neuropediatry & Referral Center for Intellectual disabilities of rare causes, AP-HP.Sorbonne Université, Hopital Armand-Trousseau, Paris, France.
Anne FaudetDepartment of Genetics and Referral Center for Intellectual disabilities of rare causes, AP-HP.Sorbonne Université, Assistance Publique-Hopitaux de Paris, Pitié-Salpêtrière Hospital, Paris, 75013, France, Paris, France.
Anna GerasimenkoDepartment of Genetics and Referral Center for Intellectual disabilities of rare causes, AP-HP.Sorbonne Université, Assistance Publique-Hopitaux de Paris, Pitié-Salpêtrière Hospital, Paris, 75013, France, Paris, France.
Catherine GarelDepartment of pediatric and prenatal imaging, Armand-Trousseau Hospital, Sorbonne Université, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France.
Eleonore BlondiauxDepartment of pediatric and prenatal imaging, Armand-Trousseau Hospital, Sorbonne Université, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France.
Agnès RastetterParis Brain Institute (ICM Institut du Cerveau), Sorbonne Université, INSERM UMR S 1127, Paris, France.
David GreventRadiology Department, Hopital universitaire Necker-enfants Malades, Paris, France.
Carolyn LeInstitute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, California, USA.
Lisa MackenzieDepartment of Neuroscience, Washington University in St Louis School of Medicine, St Louis, Missouri, USA.
Linda RichardsDepartment of Neuroscience, Washington University in St Louis School of Medicine, St Louis, Missouri, USA.
Tania Attié-BitachGenomic medicine of rare diseases, UF MP5, Hopital universitaire Necker-enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France.
Christel DepienneInstitute of Human Genetics, University Hospital Essen, Universitu Duisburg-Essen, Essen, Germany.
Elliott SherrDepartment of Neurology, University of California San Francisco Division of Hospital Medicine, San Francisco, California, USA.
Delphine HéronDepartment of Genetics and Referral Center for Intellectual disabilities of rare causes, AP-HP.Sorbonne Université, Assistance Publique-Hopitaux de Paris, Pitié-Salpêtrière Hospital, Paris, 75013, France, Paris, France.
Sorbonne Université · FRHôpital Necker-Enfants Malades · FRSan Francisco General Hospital · USInserm · FRThe University of Queensland · AUUniversity of California, San Francisco · USUniversity of Duisburg-Essen · DEWashington University in St. Louis · US

Funding

De novo copy number variation and gene discovery in human brain malformationsR01NS058721 · NINDS · UNIVERSITY OF CHICAGO · PI ARGILLI, EMANUELA · 2008 to 2025
$10.9M
NINDS NIH HHS R01 NS058721
6 · The paper itself

Abstract

backgroundThe neurodevelopmental prognosis of anomalies of the corpus callosum (ACC), one of the most frequent brain malformations, varies extremely, ranging from normal development to profound intellectual disability (ID). Numerous genes are known to cause syndromic ACC with ID, whereas the genetics of ACC without ID remains poorly deciphered.

methodsThrough a collaborative work, we describe here

resultsIn five cases, the variant was inherited from a parent with a normal corpus callosum, which illustrates the incomplete penetrance of ACC in individuals with an LoF in

conclusionThis study shows

Indexed as

Intellectual DisabilityNervous System MalformationsAgenesis of Corpus CallosumCognitionCorpus CallosumFemaleHumansInfant, NewbornZinc Finger E-box-Binding Homeobox 1ZEB1 protein, humanZinc Finger E-box-Binding Homeobox 1Genetics, MedicalNervous System MalformationsNeurology

Identifiers

PMID37857482
PMCPMC12327056
OpenAlexW4387772241

What OpenQuestion holds

Textmetadata
LicenceTDM
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.