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Record W4407908396

<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

2025· preprint· en· W4407908396 on OpenAlexaff
Laura Cif, Diane Demailly, Katy Barwick, Mario Sa, Lucia Abela, W.K. Chong, Alba Sanchis-Juan, Adeline Ngoh, N Trump, Esther Meyer, Xavier Vasques, Julia Rankin, Meredith W Allain, Carolyn Applegate, Sanaz Attaripour Isfahani, Julien Baleine, Bettina Balint, Jennifer A. Bassetti, Emma L. Baple, Kailash P. Bhatia, Catherine Blanchet, Lydie Bürglen, Gilles Cambonie, Emilie Chan Seng, Sandra Chantot‐Bastaraud, Fabienne Cyprien, Christine Coubes, Vincent d’Hardemare, D.D.D. Study, Asif Doja, Nathalie Dorison, Diane Doummar, Marisela Dy-Hollins, David Fitzpatrick, Conor Fearon, Elizabeth L. Fieg, Brent L. Fogel, Eva Forman, Genomics England Research Consortium, William A. Gahl, Serena Galosi, Victoria González, Tracey D. Graves, Allison Gregory, Mark Hallett, Harutomo Hasegawa, Susan J. Hayflick, Ada Hamosh, Marie Hully, Sandra Jansen, Joel B. Krier, Sidney Krystal, Kishore R. Kumar, Chloé Laurencin, Haebeom Lee, Gaëtan Lesca, Laurence Lion François, Timothy Lynch, Neil Mahant, Julián A. Martínez-Agosto, Christophe Milési, M. Mondain, Hugo Morales‐Briceño, Nihr BioResource, John R. Østergaard, J. Carl Pallais, Frédérique Pavillard, Pierre-Francois Perrigault, G Poulen, Tuula Rinne, Thomas Roujeau, Agathe Roubertie, Michelle Sahagian, Élise Schaefer, Laila Selim, Richard Selway, Nutan Sharma, Rebecca Signer, Ariane Soldatos, David A. Stevenson, Fiona Stewart, Michel Tchan, Undiagnosed Diseases Network, Ishwar C. Verma, Derek A. Wong, Raghda Mohamed Hesham Zaitoun, Anna Znaczko, Russell C. Dale, Claudio Melo de Gusmão, Victor SC Fung, Sarmad Mohammad, Luis Rohena, Jeff Waugh, F. Lucy Raymond

Bibliographic record

VenuePubMed · 2025
Typepreprint
Languageen
FieldMedicine
TopicNeurological disorders and treatments
Canadian institutionsChildren's Hospital of Eastern Ontario
FundersKing's College LondonCenter for Mendelian Genomics, University of WashingtonWellcome TrustNational Institute for Health and Care ResearchUniversity of Washington
KeywordsDeep brain stimulationTerm (time)StimulationNeuroscienceBrain stimulationBroad spectrumPsychologyMedicinePhysicsInternal medicineChemistry
DOInot available

Abstract

fetched live from OpenAlex

related disease comprises an expanding continuum from infancy to adulthood, with early evidence of genotype-phenotype correlations. Except for laryngeal dysphonia, deep brain stimulation provides a significant improvement in quality of life and function with sustained clinical benefit depending on symptoms distribution.

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)0.000
metaresearch head score (Gemma)0.001
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: Empirical · Consensus signal: Empirical
Teacher disagreement score0.007
Threshold uncertainty score0.022

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.001
Scholarly communication0.0010.000
Open science0.0000.000
Research integrity0.0000.001
Insufficient payload (model declined to judge)0.0070.002

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 head0.015
GPT teacher head0.251
Teacher spread0.235 · 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
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

Citations9
Published2025
Admission routes1
Has abstractyes

Explore more

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