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Record W3004386091 · doi:10.1038/s41431-020-0571-6

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

2020· review· en· W3004386091 on OpenAlexafffund
Sophie Nambot, Laurence Faivre, Ghayda Mirzaa, Julien Thévenon, Ange‐Line Bruel, Anne‐Laure Mosca‐Boidron, Alice Masurel‐Paulet, Alice Goldenberg, Nathalie Le Meur, Aude Charollais, Cyril Mignot, Florence Petit, Massimiliano Rossi, Julia Métreau, Valérie Layet, Daniel Amram, Odile Boute‐Bénéjean, Elizabeth Bhoj, Margot A. Cousin, Teresa Kruisselbrink, Brendan C. Lanpher, Eric W. Klee, Elise Fiala, Dorothy K. Grange, Wendy S. Meschino, Susan M. Hiatt, Gregory M. Cooper, Hilde Olivié, Wendy E. Smith, Meghan Dumas, Anna Lehman, Cara Inglese, Mathilde Nizon, Renzo Guerrini, Annalisa Vetro, Eitan S Kaplan, D. Miramar, Julien Van‐Gils, Patricia Fergelot, Olaf A. Bodamer, Johanna C. Herkert, Sander Pajusalu, Katrin Õunap, James J. Filiano, Thomas Smol, Amélie Piton, Bénédicte Gérard, Sandra Chantot‐Bastaraud, Thierry Bienvenu, Li Dong, Jane Juusola, Koenraad Devriendt, Frédéric Bilan, Charlotte Pöe, Martin Chevarin, Thibaud Jouan, Émilie Tisserant, Jean‐Baptiste Rivière, Frédéric Tran Mau‐Them, Christophe Philippe, Yannis Duffourd, William B. Dobyns, Robert F. Hevner, Christel Thauvin‐Robinet

Bibliographic record

VenueEuropean Journal of Human Genetics · 2020
Typereview
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetics and Neurodevelopmental Disorders
Canadian institutionsNorth York General HospitalUniversity of British Columbia
FundersNational Institute of Neurological Disorders and StrokeConseil régional de Bourgogne-Franche-ComtéEuropean CommissionGenome British ColumbiaNational Human Genome Research InstituteBC Children's HospitalNational Institutes of HealthChildren's Hospital FoundationCanadian Institutes of Health ResearchGenome Canada
KeywordsAutism spectrum disorderProbandAutismNeurodevelopmental disorderGeneticsNeurocognitivePhenotypePsychologyBiologyNeuroscienceMutationGenePsychiatryCognition

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: Not applicable · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.881
Threshold uncertainty score0.900

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
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 head0.023
GPT teacher head0.276
Teacher spread0.253 · 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 designNot applicable
Domainnot available
GenreReview

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

Citations38
Published2020
Admission routes2
Has abstractno

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