MétaCan
Menu
Back to cohort
Record W3202396661 · doi:10.1016/j.ajhg.2021.09.005

ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies

2021· article· en· W3202396661 on OpenAlex
Gabrielle Lemire, Yoko Itō, Aren E. Marshall, Nicolas Chrestian, Valentina Stanley, Lauren Brady, Mark A. Tarnopolsky, Cynthia J. Curry, Taila Hartley, Wendy Mears, Alexa Derksen, Nadie Rioux, Nataly Laflamme, Harrol T. Hutchison, Lynn Pais, Maha S. Zaki, Tipu Sultan, Adrie Dane, Joseph G. Gleeson, Frédéric M. Vaz, Kristin D. Kernohan, Geneviève Bernard, Kym M. Boycott

Why this work is in the frame

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.
fundA Canadian funder is recorded on the work.

Bibliographic record

VenueThe American Journal of Human Genetics · 2021
Typearticle
Languageen
FieldNeuroscience
TopicHereditary Neurological Disorders
Canadian institutionsNewborn Screening OntarioMcGill University Health CentreMcMaster UniversityMcGill UniversityChildren's Hospital of Eastern OntarioUniversité LavalUniversity of Ottawa
FundersNational Eye InstituteNational Human Genome Research InstituteNational Heart, Lung, and Blood InstituteFonds de Recherche du Québec - SantéGenome AlbertaOntario Genomics InstituteGenome British ColumbiaCanadian Institutes of Health ResearchGenome CanadaChildren's Hospital of Eastern Ontario FoundationBroad InstituteOntario Research Foundation
KeywordsHereditary spastic paraplegiaSpasticityBiologySpasticNeuroscienceCorpus callosumWhite matterPhenotypeAlleleGeneticsGeneInternal medicineMedicinePhysical medicine and rehabilitationMagnetic resonance imaging

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.

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)0.001
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesScience and technology studies
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.378
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.001
Science and technology studies0.0000.003
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 head0.040
GPT teacher head0.271
Teacher spread0.231 · 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