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Record W2124424065 · doi:10.1038/ejhg.2009.192

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome

2009· article· en· W2124424065 on OpenAlexafffund
Marjolein H. Willemsen, Bridget A. Fernandez, Carlos A. Bacino, Erica H. Gerkes, Arjan PM de Brouwer, Rolph Pfundt, Birgit Sikkema‐Raddatz, Stephen W. Scherer, Christian R. Marshall, Lorraine Potocki, Hans van Bokhoven, Tjitske Kleefstra

Bibliographic record

VenueEuropean Journal of Human Genetics · 2009
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomic variations and chromosomal abnormalities
Canadian institutionsSickKids FoundationHospital for Sick ChildrenUniversity of TorontoMemorial University of Newfoundland
FundersHospital for Sick ChildrenCanadian Institutes of Health ResearchGenome CanadaOntario GenomicsUniversity of TorontoGlaxoSmithKlineNational Alliance for Research on Schizophrenia and DepressionOntario Genomics Institute
KeywordsMicrodeletion syndromeRubinstein–Taybi syndromeHaploinsufficiencyAutismCHARGE syndromeAutism spectrum disorderGeneticsCopy-number variationComparative genomic hybridizationBiologyPhenotypeGeneMedicineGenomePsychiatry

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 machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.001
Version: metacan-v3-hybrid-931329e0061cValidation 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 score0.002
Threshold uncertainty score0.006

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0020.001
Science and technology studies0.0000.001
Scholarly communication0.0010.000
Open science0.0010.001
Research integrity0.0010.000
Insufficient payload (model declined to judge)0.0020.000

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 head0.009
GPT teacher head0.236
Teacher spread0.227 · 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 source (direct Gemma or distilled Codex), 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

Citations162
Published2009
Admission routes2
Has abstractno

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