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Record W4406297584 · doi:10.21203/rs.3.rs-5619348/v1

An X-linked long non-coding RNA, PTCHD1-AS, regulates autistic behaviors in humans and in mice

2025· preprint· en· W4406297584 on OpenAlexafffund
Stephen W. Scherer, Clarrisa A. Bradley, Sangyoon Y. Ko, Meng Tian, Liam T. Ralph, Lia D’Abate, Tianyi Liu, Junhui Wang, Patrick Tidball, Marla Mendes de Aquino, Xiaolian Fan, Jennifer Howe, Roumiana Alexandrova, Giovanna Pellecchia, Guillermo Casallo, Tara Paton, Leanne Wybenga-Groot, Worrawat Engchuan, Bhooma Thiruvahindrapuram, Brett Trost, Jill de Rijke, Ashish Kadia, Fuzi Jin, Nelson Bautista Salazar, J. Javier Díaz-Mejía, Jeffrey R. MacDonald, Éric Deneault, P. Joel Ross, James Ellis, Carole Shum, John Georgiou, Olivia Rennie, Miriam S. Reuter, Ny Hoang, Ege Sarikaya, Thanuja Selvanayagam, Annabel Rutherford, Natalia Rivero-Alfaro, Christian R. Marshall, Marcello Scala, Cassandra Runke, Hutton M. Kearney, John Christodoulou, David Francis, Brian Hon‐Yin Chung, Jill Plucinicazak, Alana Iaboni, Christine Wu Nordahl, David G. Amaral, Melissa M. Hudson, Calvin Sjaarda, Andrea Guerin, Mayada Elsabbagh, Rebecca Landa, Seema Mital, Robert Lesurf, Anjali Jain, Michael D. Wilson, Jason P. Lerch, Leo Lee, Brendan J. Frey, Michael W. Salter, Jacob Vorstman, Evdokia Anagnostou, Paul W. Frankland, Graham L. Collingridge

Bibliographic record

VenueResearch Square · 2025
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicCancer-related molecular mechanisms research
Canadian institutionsMcGill UniversityQueen's UniversityHolland Bloorview Kids Rehabilitation HospitalLunenfeld-Tanenbaum Research InstituteUniversity of TorontoSickKids FoundationHealth CanadaHospital for Sick Children
FundersCanadian Institutes of Health ResearchAlliance de recherche numérique du CanadaOntario Genomics InstituteMurdoch Children's Research InstituteInova Health SystemRoyal Children's Hospital FoundationGovernment of CanadaChildren's Hospital FoundationChildren’s Hospital of Wisconsin Research InstituteOntario GenomicsGenome CanadaHospital for Sick ChildrenState Government of VictoriaHeart and Stroke Foundation of CanadaSimons Foundation Autism Research InitiativeGovernment of OntarioUniversity of TorontoAutism Speaks
KeywordsCoding (social sciences)AutismPsychologyLong non-coding RNARNANeuroscienceBiologyCommunicationDevelopmental psychologyGeneticsMathematicsGene

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 machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: metacan-v3-hybrid-931329e0061cValidation 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 score0.002
Threshold uncertainty score0.006

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.000
Science and technology studies0.0000.001
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0020.000

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 head0.026
GPT teacher head0.391
Teacher spread0.365 · 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 source (direct Gemma or distilled Codex), 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

Citations0
Published2025
Admission routes2
Has abstractno

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