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Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
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Bibliographic record
VenueGenetics in Medicine · 2023
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Syndromes and Imprinting
Canadian institutionsSt. Thomas HospitalHospital for Sick Children
FundersYale Center for Clinical Investigation, Yale School of MedicineEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentNational Institute of Neurological Disorders and StrokeNational Eye InstituteNational Heart, Lung, and Blood InstitutePerelman School of Medicine, University of PennsylvaniaIntellectual and Developmental Disabilities Research CenterHorizon 2020National Human Genome Research InstituteEpilepsy SocietyDeutsche ForschungsgemeinschaftEuropean CommissionBroad InstituteNational Institute for Health and Care ResearchInstitute for Translational Medicine and TherapeuticsHORIZON EUROPE Framework ProgrammeYale New Haven HospitalCancer Research UKWellcome TrustUniversity of PennsylvaniaNational Center for Advancing Translational SciencesMedical Research CouncilHartwell FoundationHealth Research Institute, University of LimerickHorizon 2020 Framework ProgrammeChildren's Hospital of PhiladelphiaYale UniversityNational Institutes of HealthU.S. Department of Health and Human Services
KeywordsMissense mutationPhenotypeFrameshift mutationGene knockdownBiologyExome sequencingNeurodevelopmental disorderAlleleGeneticsGene
Abstract
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 imitationNot 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 score0.613
Threshold uncertainty score0.892
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
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 head0.033
GPT teacher head0.291
Teacher spread0.258 · how far apart the two teachers sit on this one work
Validation status
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine 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
Citations11
Published2023
Admission routes1
Has abstractno