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Record W4366496697 · doi:10.1016/j.gim.2023.100856

Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta

2023· article· en· W4366496697 on OpenAlexafffund
Véronique Caron, Nicolas Chassaing, Nicola Ragge, Felix Boschann, Angelina My-Hoa Ngu, Elisabeth Meloche, Sarah Chorfi, Saquib A. Lakhani, Weizhen Ji, Laurie A. Steiner, Julien Marcadier, Philip R. Jansen, Laura A. van de Pol, Johanna M. van Hagen, Alvaro Serrano Russi, Gwenaël Le Guyader, Magnus Nordenskjöld, Ann Nordgren, Britt‐Marie Anderlid, Julie Plaisancié, Corinna Stoltenburg, Denise Horn, Anne Drenckhahn, Fadi F. Hamdan, Mathilde Lefebvre, Tania Attié‐Bitach, Peggy Forey, В. В. Смирнов, Françoise Ernould, Marie‐Line Jacquemont, Sarah Grotto, Alberto Alcantud, Alicia Coret, Rosario Ferrer‐Avargues, Siddharth Srivastava, Catherine Vincent-Delorme, Shelby Romoser, Nicole Safina, Dimah Saade, James R. Lupski, Daniel G. Calame, David Geneviève, Nicolas Chatron, Caroline Schluth‐Bolard, Kenneth A. Myers, William B. Dobyns, Patrick Calvas, Caroline Salmon, Richard I. G. Holt, Frances Elmslie, Marc Allaire, Daniil M. Prigozhin, André Tremblay, Jacques L. Michaud

Bibliographic record

VenueGenetics in Medicine · 2023
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicOcular Disorders and Treatments
Canadian institutionsMcGill University Health CentreUniversité de MontréalAlberta Children's HospitalCentre Hospitalier Universitaire Sainte-Justine
FundersNational Center for Advancing Translational SciencesWellcome TrustAgence Nationale de la RechercheNational Human Genome Research InstituteOxford Brookes UniversityManipal College of Pharmaceutical Sciences, Manipal Academy of Higher EducationNational Institutes of HealthCanadian Institutes of Health ResearchNational Institute of Neurological Disorders and StrokeNational Institute of General Medical SciencesNational Institute for Health and Care ResearchE-RareNational Institute of Allergy and Infectious DiseasesSpastic Paraplegia FoundationMuscular Dystrophy Association
KeywordsMicrophthalmiaRetinoic acidGeneticsBiologyBioinformaticsGeneMedicine

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: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.036
Threshold uncertainty score0.207

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 head0.030
GPT teacher head0.318
Teacher spread0.288 · 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

Citations9
Published2023
Admission routes2
Has abstractno

Explore more

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