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Record W3008970786 · doi:10.1016/j.neuron.2020.01.027

Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly

2020· article· es· W3008970786 on OpenAlexaff
Meng‐Han Tsai, Alison M. Muir, Won‐Jing Wang, Yi-Ning Kang, Kun-Chuan Yang, Nian-Hsin Chao, Mei‐Feng Wu, Ying‐Chao Chang, Brenda E. Porter, Laura A. Jansen, Guillaume Sébire, Nicolas Deconinck, Wen‐Lang Fan, Shih‐Chi Su, Wen‐Hung Chung, Edith P. Almanza Fuerte, Michele G. Mehaffey, Ching Ching Ng, Chung-Kin Chan, Kheng Seang Lim, Richard J. Leventer, Paul J. Lockhart, Kate Riney, John A. Damiano, Michael S. Hildebrand, Ghayda Mirzaa, William B. Dobyns, Samuel F. Berkovic, Ingrid E. Scheffer, Jin‐Wu Tsai, Heather C. Mefford

Bibliographic record

VenueNeuron · 2020
Typearticle
Languagees
FieldBiochemistry, Genetics and Molecular Biology
TopicRNA regulation and disease
Canadian institutionsMcGill University
FundersEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentNational Institute of Child Health and Human DevelopmentNational Heart, Lung, and Blood InstituteNational Health and Medical Research CouncilCenter for Mendelian Genomics, University of WashingtonNational Institute of Neurological Disorders and StrokeSchool of Medicine, New York UniversityBioMarin PharmaceuticalNational Institutes of HealthNational Yang Ming UniversityNational Health Research InstitutesChang Gung Medical FoundationGlaxoSmithKlineZogenixMinistry of Education of the People's Republic of ChinaIntellectual and Developmental Disabilities Research CenterIntellectual and Developmental Disabilities Research Center, Washington University School of Medicine in St. LouisUCBDravet Syndrome FoundationEisaiCynthia and George Mitchell FoundationUniversity of WashingtonNovartisMinistry of Science and Technology of the People's Republic of ChinaNational Human Genome Research InstituteAmerican Epilepsy Society
KeywordsLissencephalyBiologyCentrosomeGeneticsGeneMicrotubule

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 score0.924
Threshold uncertainty score0.855

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 head0.012
GPT teacher head0.239
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 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

Citations35
Published2020
Admission routes1
Has abstractno

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