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Record W4411642035 · doi:10.1038/s41431-025-01884-z

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization

2025· article· en· W4411642035 on OpenAlexaff
Camille Engel, Michaela Rendek, Jessica Assoumani, Emanuela Argilli, Francesca Ariani, Anne-Laude Avice-Denizet, Emilia K Bijlsmaa, Pierre Blanc, Lucia Pia Bruno, Bert Callewaert, Valeria Capra, Michele Carullo, Bertrand Chesneau, Sandra Coppens, Cynthia J. Curry, Breanne Dale, Eric Dahlen, Andrée Delahaye‐Duriez, Anne‐Sophie Denommé‐Pichon, Bénédicte Demeer, Lenka Dvořáková, Jan Fischer, David Geneviève, Thea Giacomini, Mette Møller Handrup, Delphine Héron, Irina Hüning, Michele Iacomino, Bertrand Isidor, Boris Keren, Stanislav Kmoch, David A. Koolen, Andrea Kübler, Jana Laštůvková, Carolyn Le, Jonathan Lévy, Caterina Lo Rizzo, Silvia Maitz, Sandrine Marlin, Cyril Mignot, Ghayda Mirzaa, Inga Nagel, Sebastian Neuens, Lenka Nosková, Emily Pao, Anna Pecková, Julie Plaisancié, Joseph Porrmann, Flavia Privitera, André Reis, Alessandra Renieri, Marlène Rio, Alyssa Rippert, Lukáš Ryba, Marcello Scala, Jolanda Schieving, Elliott H. Sherr, Andrew Y. Shuen, Richard Sidlow, Thomas Smol, Julie Soblet, Mohnish Suri, Hannes Syryn, Frédéric Tran Mau‐Them, André Travessa, Julien Van‐Gils, Georgia Vasileiou, Jolijn Verseput, Catheline Vilain, Catherine Vincent-Delorme, Emílie Vyhnálková, Emma Wakeling, Pia Zacher, Federico Zara, Paul Kuentz, Juliette Piard

Bibliographic record

VenueEuropean Journal of Human Genetics · 2025
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetics and Neurodevelopmental Disorders
Canadian institutionsHospital for Sick ChildrenMcMaster Children's Hospital
FundersNational Institute of Neurological Disorders and Stroke
KeywordsPhenotypeGenotypeGeneticsBiologyEvolutionary biologyGene

Abstract

fetched live from OpenAlex
No abstract in any covered source. Its absence is recorded, not treated as a negative.

No abstract. This is not a gap in this database; OpenAlex has none either. 23.3% of the frame is in this state, and the screen finds HALF as much metaresearch here, so the absence is a measured bias rather than a missing field.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.953
Threshold uncertainty score0.697

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.008
GPT teacher head0.230
Teacher spread0.222 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations4
Published2025
Admission routes1
Has abstractno

Explore more

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