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Record W4361283089 · doi:10.1016/j.ajhg.2023.03.005

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage

2023· article· en· W4361283089 on OpenAlexafffund
Mauro Lecca, Davut Pehli̇van, Damián Heine‐Suñer, Karin Weiss, Thibault Coste, Markus Zweier, Yavuz Oktay, Nada Danial‐Farran, Vittorio Rosti, Maria Paola Bonasoni, Alessandro Malara, Gianluca Contrò, Roberta Zuntini, Marzia Pollazzon, Rosario Pascarella, Alberto Neri, Carlo Fusco, Dana Marafi, Tadahiro Mitani, Jennifer E. Posey, Sadık Etka Bayramoğlu, Alper Gezdirici, Jessica Hernández-Rodríguez, Emilia Amengual Cladera, Elena Miravet, Jorge Roldan-Busto, María Angeles Ruiz, Cristòfol Vives-Bauzá, Liat Ben‐Sira, Sabine Sigaudy, Anaïs Begemann, Sheila Unger, Serdal Güngör, Semra Hız, Ece Sönmezler, Yoav Zehavi, Michael Jerdev, Alessandra Balduini, Orsetta Zuffardi, Rita Horváth, Hanns Lochmüller, Anita Rauch, Livia Garavelli, Elisabeth Tournier‐Lasserve, Ronen Spiegel, James R. Lupski, Edoardo Errichiello

Bibliographic record

VenueThe American Journal of Human Genetics · 2023
Typearticle
Languageen
FieldMedicine
TopicIntracerebral and Subarachnoid Hemorrhage Research
Canadian institutionsOttawa HospitalChildren's Hospital of Eastern OntarioUniversity of Ottawa
FundersNational Institute of Neurological Disorders and StrokeNational Human Genome Research InstituteInstituto de Salud Carlos IIIMedical Research CouncilCanadian Institutes of Health ResearchSchweizerischer Nationalfonds zur Förderung der Wissenschaftlichen ForschungCanada Research ChairsTürkiye Bilimsel ve Teknolojik Araştırma KurumuNational Institutes of HealthNIHR Cambridge Biomedical Research CentreUniversità degli Studi di PaviaH2020 European Research CouncilAddenbrooke's Charitable Trust, Cambridge University HospitalsTürkiye Bilimler AkademisiMinistero della SaluteCanada Foundation for InnovationUniversität ZürichFondation LeducqNewton Fund
KeywordsAlleleIntracerebral hemorrhageBiologyPhenotypeHydrocephalusNeurodevelopmental disorderVentriculomegalyBlood–brain barrierMutationFetusGeneGeneticsMedicineCentral nervous systemNeurosciencePregnancyInternal medicine

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)0.002
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: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.004
Threshold uncertainty score0.009

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.002
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.001
Science and technology studies0.0010.001
Scholarly communication0.0000.000
Open science0.0010.001
Research integrity0.0010.001
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 head0.023
GPT teacher head0.286
Teacher spread0.264 · 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

Citations16
Published2023
Admission routes2
Has abstractno

Explore more

Same venueThe American Journal of Human GeneticsSame topicIntracerebral and Subarachnoid Hemorrhage ResearchFrench-language works237,207