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Record W4387710985 · doi:10.1016/j.gim.2023.101007

Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals

2023· article· en· W4387710985 on OpenAlexaff
Quentin Sabbagh, Sadegheh Haghshenas, Juliette Piard, Chloé Trouvé, Jeanne Amiel, Tania Attié‐Bitach, Tuğçe B. Balcı, Mouna Barat‐Houari, Alyce Belonis, Odile Boute, Diana S. Brightman, Ange‐Line Bruel, Stefano Giuseppe Caraffi, Nicolas Chatron, Corinne Collet, William Dufour, Patrick Edery, Chin-To Fong, Carlo Fusco, Vincent Gâtinois, Evan Gouy, Anne‐Marie Guerrot, Solveig Heide, Aakash Joshi, Natalya Karp, Boris Keren, Marion Lesieur‐Sebellin, Jonathan Levy, Michael A. Levy, Claire Lozano, Stanislas Lyonnet, Henri Margot, Pauline Marzin, Haley McConkey, Vincent Michaud, Gaël Nicolas, Mevyn Nizard, A. Crastes de Paulet, Francesca Peluso, Vincent Pernin, Laurence Perrin, Christophe Philippe, Chitra Prasad, Madhavi Prasad, Raissa Relator, Marlène Rio, Sophie Rondeau, Valentin Ruault, Nathalie Ruiz-Pallares, Elodie Sanchez, Debbie Shears, Victoria Mok Siu, Arthur Sorlin, Matthew L. Tedder, Mylène Tharreau, Frédéric Tran Mau‐Them, Liselot van der Laan, Julien Van‐Gils, Alain Verloès, Sandra Whalen, Marjolaine Willems, Kévin Yauy, Roberta Zuntini, Jennifer Kerkhof, Bekim Sadiković, David Geneviève

Bibliographic record

VenueGenetics in Medicine · 2023
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomics and Rare Diseases
Canadian institutionsWestern UniversityLondon Health Sciences Centre
FundersAssistance publique-Hôpitaux de ParisUniversité de BordeauxUniversité de MontpellierUniversiteit van AmsterdamInstitut National de la Santé et de la Recherche MédicaleAmsterdam University Medical Centers
KeywordsIdentification (biology)Series (stratigraphy)Computational biologyMedicineBiologyGeneticsPaleontology

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)0.003
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Case report · Consensus signal: Case report
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.004
Threshold uncertainty score0.013

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.003
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0000.001
Bibliometrics0.0020.001
Science and technology studies0.0020.001
Scholarly communication0.0010.001
Open science0.0010.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0040.001

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 head0.022
GPT teacher head0.314
Teacher spread0.292 · 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 designCase report
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

Citations8
Published2023
Admission routes1
Has abstractno

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