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Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations

2021· article· en· W3186573778 on OpenAlexfundno aff
Hope Northrup, Mary E. Aronow, E. Martina Bebin, John J. Bissler, Thomas N. Darling, Petrus J. de Vries, Michael Frost, Zoë Fuchs, Elizabeth S. Gosnell, Nishant Gupta, Anna Jansen, Sergiusz Jóźwiak, J.C. Kingswood, Timothy K. Knilans, Francis X. McCormack, Ashley Pounders, Steven L. Roberds, David Rodriguez‐Buritica, Jonathan Roth, Julian R. Sampson, Steven Sparagana, Elizabeth A. Thiele, Howard L. Weiner, James W. Wheless, Alexander J. Towbin, Darcy A. Krueger, Nicholas M. P. Annear, Ute Bartels, Moncef Berhouma, Klemens Budde, Anna W. Byars, Harry T. Chugani, Edward W. Cowen, Peter B. Crino, Paolo Curatolo, Petrus de Vries, Daniel F. Dilling, David W. Dunn, Kevin C. Ess, David Neal Franz, Lisa M. Guay‐Woodford, Luciana Amaral Haddad, Anne Halbert, Adelaide A. Hebert, Elizabeth P. Henske, Gregory L. Holmes, Dena Hook, John C. Hulbert, Simon R. Johnson, Bryan H. King, Mary Kay Koenig, Bruce R. Korf, David J. Kwiatkowski, Joel Moss, David Mowat, Kate Mowrey, Rima Nabbout, Mark Nellist, Finbar O’Callaghan, Uday Patel, E. Steve Roach, Robb L. Romp, Micaela Rozenberg, Stephen J. Ruoss, Mustafa Şahin, Joshua Samuels, Matthias Sauter, Catherine Smith, Keyomaurs Soltani, Shoba Srivastava, Clare Stuart, Joyce Teng, Andrew T. Trout, Agnies M. van Eeghen, Stephanie Vanclooster, Henry Z. Wang, Mari Wataya‐Kaneda, Patricia M. Witman, Tim Wright, Joyce Y. Wu, Lisa R. Young

Bibliographic record

VenuePediatric Neurology · 2021
Typearticle
Languageen
FieldMedicine
TopicTuberous Sclerosis Complex Research
Canadian institutionsnot available
FundersTuberous Sclerosis AssociationUpsher-SmithH. Lundbeck A/SLivaNovaDepomedAmneal PharmaceuticalsMallinckrodt PharmaceuticalsGreenwich BiosciencesTuberous Sclerosis Alliance
KeywordsTuberous sclerosisTSC1MedicinePresentation (obstetrics)Genetic testingPediatricsPathologySurgeryInternal 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)0.011
metaresearch head score (Gemma)0.040
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: Not applicable
GenreCandidate signal: Methods · Consensus signal: none
Teacher disagreement score0.052
Threshold uncertainty score0.104

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0110.040
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0020.003
Bibliometrics0.0050.003
Science and technology studies0.0010.001
Scholarly communication0.0020.002
Open science0.0020.002
Research integrity0.0050.008
Insufficient payload (model declined to judge)0.0050.002

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 head0.056
GPT teacher head0.319
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 designNot applicable
Domainnot available
GenreMethods

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

Citations705
Published2021
Admission routes1
Has abstractno

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