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Record W2998407409 · doi:10.1016/j.ajhg.2019.12.004

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations

2019· article· en· W2998407409 on OpenAlex
Joel Hughes, Ebba Alkhunaizi, Paul Kruszka, Louise C. Pyle, Dorothy K. Grange, Seth Berger, Katelyn Payne, Diane Masser‐Frye, Tommy Hu, Michelle R. Christie, Nancy J. Clegg, Joshua L. Everson, Ariel F. Martinez, Laurence E. Walsh, Emma Bedoukian, Marilyn C. Jones, Catharine Harris, Korbinian M. Riedhammer, Daniela Choukair, Patricia Y. Fechner, Meilan M. Rutter, Sophia B. Hufnagel, Maian Roifman, Gad B. Kletter, Emmanuèle C. Délot, Éric Vilain, Robert J. Lipinski, Chad M. Vezina, Maximilian Muenke, David Chitayat

Why this work is in the frame

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.

Bibliographic record

VenueThe American Journal of Human Genetics · 2019
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicHedgehog Signaling Pathway Studies
Canadian institutionsHospital for Sick ChildrenUniversity of TorontoSickKids FoundationMount Sinai Hospital
FundersEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentNational Institute of Dental and Craniofacial ResearchNational Institute of Environmental Health SciencesNational Institute on Drug AbuseOffice of the DirectorNational Institute of Neurological Disorders and StrokeNational Institute of General Medical SciencesDrainage Services DepartmentNational Heart, Lung, and Blood InstituteNational Institute of Mental HealthNational Institute of Diabetes and Digestive and Kidney DiseasesNational Center for Advancing Translational SciencesNational Human Genome Research InstituteNational Cancer InstituteNational Institutes of Health
KeywordsHoloprosencephalyGenitourinary systemLoss functionFunction (biology)MedicineBiologyAnatomyGeneticsPregnancyFetusGenePhenotype

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.

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: Bench or experimental · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.709
Threshold uncertainty score0.350

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 head0.010
GPT teacher head0.247
Teacher spread0.238 · 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