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Record W2968583565 · doi:10.1016/j.ajhg.2019.07.015

Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy

2019· article· en· W2968583565 on OpenAlexafffund
Clara D.M. van Karnebeek, Rúben J. Ramos, Xiao‐Yan Wen, Maja Tarailo‐Graovac, Joseph G. Gleeson, Cristina Skrypnyk, Koroboshka Brand‐Arzamendi, Farhad Karbassi, Mahmoud Y. Issa, Robin van der Lee, Britt I. Drögemöller, Janet Koster, Justine Rousseau, Philippe M. Campeau, Youdong Wang, Feng Cao, Meng Li, Jos P.N. Ruiter, Jolita Čiapaitė, Leo A. J. Kluijtmans, Michèl A.A.P. Willemsen, Judith Jans, Colin J.D. Ross, Liesbeth T. Wintjes, Richard J. Rodenburg, Marleen C.D.G. Huigen, Zhengping Jia, Hans R. Waterham, Wyeth W. Wasserman, Ronald J. A. Wanders, Nanda M. Verhoeven‐Duif, Maha S. Zaki, Ron A. Wevers

Bibliographic record

VenueThe American Journal of Human Genetics · 2019
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicMetabolism and Genetic Disorders
Canadian institutionsCentre Hospitalier Universitaire Sainte-JustineAlberta Children's HospitalUniversity of CalgarySt. Michael's HospitalSickKids FoundationUniversity of TorontoBC Children's HospitalHospital for Sick ChildrenUniversity of British Columbia
FundersNational Institute of Neurological Disorders and StrokeCanadian Institutes of Health ResearchQatar National Research FundNational Human Genome Research InstituteNederlandse Organisatie voor Wetenschappelijk OnderzoekCanadian Network for Research and Innovation in Machining Technology, Natural Sciences and Engineering Research Council of CanadaGenome British ColumbiaCanada Foundation for InnovationHoward Hughes Medical InstituteStichting MetakidsMichael Smith Health Research BCE.C. Noyons StichtingBroad InstituteNatural Sciences and Engineering Research Council of CanadaRare Disease FoundationFondation Brain CanadaCummings FoundationGenome CanadaNational Institutes of HealthNational Ataxia FoundationSimons Foundation Autism Research Initiative
KeywordsZebrafishSerineBiologyEpilepsyPyridoxineGeneticsBiochemistryNeuroscienceEnzymeGene

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 score0.005

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0010.001
Science and technology studies0.0010.001
Scholarly communication0.0000.000
Open science0.0010.001
Research integrity0.0020.001
Insufficient payload (model declined to judge)0.0010.000

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 head0.258
Teacher spread0.250 · 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

Citations86
Published2019
Admission routes2
Has abstractno

Explore more

Same venueThe American Journal of Human GeneticsSame topicMetabolism and Genetic DisordersFrench-language works237,207