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Record W3122850411 · doi:10.1016/j.ajhg.2021.01.008

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

2021· article· en· W3122850411 on OpenAlexafffund
Patricia L. Weng, Amar J. Majmundar, Kamal Khan, Tze Yin Lim, Shirlee Shril, Gina Jin, John Musgrove, Minxian Wang, Dina Ahram, Vimla S. Aggarwal, Louise Bier, Erin L. Heinzen, Ana C. Onuchic-Whitford, Nina Mann, Florian Buerger, Ronen Schneider, Konstantin Deutsch, Thomas M. Kitzler, Verena Klämbt, Amy Kolb, Youying Mao, Christelle Moufawad El Achkar, Adele Mitrotti, Jeremiah Martino, Bodo B. Beck, Janine Altmüller, Marcus R. Benz, Shoji Yano, Mohamad A. Mikati, Talha Gunduz, Heidi Cope, Vandana Shashi, Howard Trachtman, Monica Bodria, Gianluca Caridi, Isabella Pisani, Enrico Fiaccadori, Asmaa S. AbuMaziad, Julián A. Martínez-Agosto, Ora Yadin, Jonathan E. Zuckerman, Arang Kim, Ulrike John-Kroegel, Amanda V. Tyndall, Jillian S. Parboosingh, A. Micheil Innes, Agnieszka Bierżyńska, Ania Koziell, Mordi Muorah, Moin A. Saleem, Julia Hoefele, Korbinian M. Riedhammer, Ali G. Gharavi, Vaidehi Jobanputra, Emma Pierce‐Hoffman, Eleanor G. Seaby, Anne O’Donnell‐Luria, Heidi L. Rehm, Shrikant Mane, Vivette D. D’Agati, Martin R. Pollak, Gian Marco Ghiggeri, Richard P. Lifton, David B. Goldstein, Erica E. Davis, Friedhelm Hildebrandt, Simone Sanna‐Cherchi

Bibliographic record

VenueThe American Journal of Human Genetics · 2021
Typearticle
Languageen
FieldImmunology and Microbiology
Topicinterferon and immune responses
Canadian institutionsAlberta Children's HospitalUniversity of Calgary
FundersEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentNational Center for Advancing Translational SciencesMedical Research CouncilCanadian Institutes of Health ResearchManchester Biomedical Research CentreManton Center for Orphan Disease Research, Boston Children's HospitalNational Human Genome Research InstituteAlberta Children's Hospital Research InstituteBroad InstituteAlberta Children's Hospital FoundationDeutsche ForschungsgemeinschaftNational Institute for Health and Care ResearchHigher Education Commision, PakistanU.S. Department of DefenseKidney Foundation of CanadaNational Institutes of HealthKidney Research UKAstraZenecaCanadian Society of NephrologyNational Eye InstituteGuy's and St Thomas' NHS Foundation TrustNational Institute of Diabetes and Digestive and Kidney DiseasesASN Foundation for Kidney ResearchKing’s College LondonNational Heart, Lung, and Blood InstituteAmerican Society of Pediatric Nephrology
KeywordsEpilepsyFocal segmental glomerulosclerosisNeuroscienceBiologyMedicineGeneticsGlomerulonephritis

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 distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.228
Threshold uncertainty score0.429

Codex and Gemma teacher scores by category

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

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 head0.017
GPT teacher head0.258
Teacher spread0.241 · 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 teacher head, 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

Citations27
Published2021
Admission routes2
Has abstractno

Explore more

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