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Record W3217267269 · doi:10.1016/j.gim.2021.09.014

Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans

2021· article· en· W3217267269 on OpenAlexafffund
Qi Cai, Irena Feng, Ana Rita Costa, Rita Pinto‐Costa, Jennifer E. Neil, Oana Caluseriu, Dong Li, Rebecca Ganetzky, Charlotte Brasch‐Andersen, Christina Fagerberg, Lars Kjærsgaard Hansen, Caleb Bupp, Colleen Muraresku, Xiangbin Ruan, Bowei Kang, Kaining Hu, Rong Zhong, Pedro Brites, Elizabeth Bhoj, Robert Hill, Marni J. Falk, Håkon Håkonarson, Kristopher T. Kahle, Mónica Mendes Sousa, Christopher A. Walsh, Xiaochang Zhang

Bibliographic record

VenueGenetics in Medicine · 2021
Typearticle
Languageen
FieldNeuroscience
TopicNeurogenesis and neuroplasticity mechanisms
Canadian institutionsUniversity of Alberta
FundersCommon FundNational Institute of Neurological Disorders and StrokeNational Institute of General Medical SciencesNational Cancer InstituteNational Human Genome Research InstituteNational Institute on Drug AbuseMinistério da Ciência, Tecnologia e Ensino SuperiorNational Institute of Mental HealthNational Heart, Lung, and Blood InstituteFundação para a Ciência e a TecnologiaNational Institutes of HealthEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentInternational Business Machines CorporationEuropean Regional Development FundUniversity of AlbertaManton Center for Orphan Disease Research, Boston Children's HospitalNIH Office of the DirectorChildren's Hospital of PhiladelphiaHoward Hughes Medical Institute
KeywordsVentriculomegalyIntellectual disabilityCorpus callosumDysgenesisMedicinePathologyBiologyGeneticsAnatomyPsychiatryPregnancy

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)0.003
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.164
Threshold uncertainty score0.882

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.003
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.001
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 head0.062
GPT teacher head0.306
Teacher spread0.243 · 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 designBench or experimental
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

Citations17
Published2021
Admission routes2
Has abstractno

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