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Record W4401011942 · doi:10.1038/s41431-024-01659-y

Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

2024· erratum· en· W4401011942 on OpenAlexaff
Dana E. Layo-Carris, Emily E. Lubin, Annabel K. Sangree, Kelly James Clark, Emily L. Durham, Elizabeth M. Gonzalez, Sarina Smith, Rajesh Angireddy, Xiao Min Wang, Erin Weiss, Annick Toutain, Roberto Mendoza‐Londono, Lucie Dupuis, Nadirah Damseh, Danita Velasco, Irene Valenzuela, Marta Codina‐Solà, Catherine A. Ziats, Jaclyn Have, Katie Clarkson, Dora Steel, Manju A. Kurian, Katy Barwick, Diana Carrasco, Aditi I Dagli, Małgorzata J.M. Nowaczyk, Miroslava Hančárová, Šárka Bendová, Darina Prchalová, Zdeněk Sedláček, A Baxová, C. Nowak, Jessica Douglas, Wendy K. Chung, Nicola Longo, Konrad Platzer, Chiara Klöckner, Luisa Averdunk, Dagmar Wieczorek, Ilona Krey, Christiane Zweier, André Reis, Tuğçe B. Balcı, Marleen Simon, Hester Y. Kroes, Antje Wiesener, Georgia Vasileiou, Nikolaos M. Marinakis, Danai Veltra, Christalena Sofocleous, Konstantina Kosma, Joanne Traeger‐Synodinos, Konstantinos Voudris, Marie‐Laure Vuillaume, Paul Gueguen, Nicolas Derive, Estelle Colin, Clarisse Battault, Billie Au, Martin B. Delatycki, Mathew Wallis, Lyndon Gallacher, Fatma Majdoub, Noor Smal, Sarah Weckhuysen, An‐Sofie Schoonjans, R. Frank Kooy, Marije Meuwissen, Ben Cocanougher, Kathryn R. Taylor, Carolyn Pizoli, Marie T. McDonald, Philip James, Elizabeth Roeder, Rebecca O. Littlejohn, Nicholas A. Borja, Willa Thorson, Kristine M. King, Radka Stoeva, Manon Suerink, Esther Nibbeling, Stephanie Baskin, Gwenaël Le Guyader, Julie Kaplan, Candace Muss, Deanna Alexis Carere, Elizabeth Bhoj, Laura Bryant

Bibliographic record

VenueEuropean Journal of Human Genetics · 2024
Typeerratum
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomics and Rare Diseases
Canadian institutionsUniversity of CalgaryHospital for Sick ChildrenMcMaster University Medical CentreWestern UniversitySickKids FoundationUniversity of Toronto
FundersEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentNational Heart, Lung, and Blood Institute
KeywordsPhenotypeGeneticsNeurodevelopmental disorderMedicineBiologyBioinformaticsPsychologyGene

Abstract

fetched live from OpenAlex

Correction to: European Journal of Human Genetics https://doi.org/10.1038/s41431-024-01610-1 , published online 27 April 2024

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

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)0.002
metaresearch head score (Gemma)0.029
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Other · Consensus signal: none
Teacher disagreement score0.085
Threshold uncertainty score0.285

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0020.029
Meta-epidemiology (narrow)0.0020.001
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0020.001
Science and technology studies0.0020.002
Scholarly communication0.0020.002
Open science0.0030.002
Research integrity0.0050.008
Insufficient payload (model declined to judge)0.0850.031

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 head0.007
GPT teacher head0.213
Teacher spread0.206 · 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 designObservational
Domainnot available
GenreOther

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

Citations2
Published2024
Admission routes1
Has abstractyes

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