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Record W4414058458 · doi:10.1016/j.ajhg.2025.08.010

A clinical and genotype-phenotype analysis of MACF1 variants

2025· article· en· W4414058458 on OpenAlexaff
Jordy Dekker, Rachel Schot, Kimberly A. Aldinger, David B. Everman, Camerun Washington, Julie R. Jones, Jennifer A. Sullivan, Rebecca C. Spillmann, Vandana Shashi, Antonio Vitobello, Anne‐Sophie Denommé‐Pichon, Anne‐Laure Mosca‐Boidron, Laurence Perrin, Stéphane Auvin, Maha S. Zaki, Joseph G. Gleeson, Naomi Meave, Cassidy Wallace, Sophie Nambot, Julian Delanne, Sarah M. Ruggiero, Ingo Helbig, Mark P. Fitzgerald, Richard J. Leventer, Dorothy K. Grange, Emanuela Argilli, Elliott H. Sherr, Supraja Prakash, Derek Neilson, Francesco Nicita, Antonella Sferra, Enrico Bertini, Chiara Aiello, Knut Brockmann, Silke Kaulfuß, Sulman Basit, Majed Alluqmani, Ahmed Almatrafi, Jan M. Friedman, Colleen Guimond, Mohammed Faruq, Pooja Sharma, Divya Goel, Thomas Wirth, Mathieu Anheim, Paulina Bahena, Asuman Koparır, Konstantinos Kolokotronis, Barbara Vona, Thomas Haaf, Erdmute Kunstmann, Reza Maroofian, Henrike L. Sczakiel, Felix Boschann, Mala Misra‐Isrie, Raymond J. Louie, Elliot Stolerman, Pedro A. Sanchez‐Lara, Sandra Mergler, Renske Oegema, Yuri A. Zárate, Ariana Kariminejad, Homa Tajsharghi, Shimriet Zeidler, Anneke J.A. Kievit, Arjan Bouman, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Kyra E. Stuurman, Dayna Morel Swols, Mustafa Tekin, Jariya Upadia, Donna M. Martin, Daniel Craven, Susan M. Hiatt, Laura A. van de Pol, Felice D’Arco, Henri Margot, Martina Wilke, Soheil Yousefi, Tahsin Stefan Barakat, Monique M. van Veghel–Plandsoen, Eleonora Aronica, Jasper J. Anink, Stephen L. Rogers, Kevin C. Slep, Dan Doherty, William B. Dobyns, Grazia M.S. Mancini

Bibliographic record

VenueThe American Journal of Human Genetics · 2025
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicHedgehog Signaling Pathway Studies
Canadian institutionsUniversity of British Columbia
FundersEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentNational Human Genome Research InstituteNederlandse Organisatie voor Wetenschappelijk OnderzoekNational Institute of Neurological Disorders and StrokeFondazione TelethonZonMwNational Institute of Mental HealthKavli FoundationDeutsche ForschungsgemeinschaftErasmus Medisch CentrumNational Alliance for Research on Schizophrenia and DepressionNational Institutes of HealthJames S. McDonnell FoundationFord Foundation
KeywordsExonMissense mutationRNA splicingAlternative splicingPhenotypeGene isoformHaploinsufficiency

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)0.001
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: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.487
Threshold uncertainty score0.297

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.001
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 head0.021
GPT teacher head0.341
Teacher spread0.320 · 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 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

Citations1
Published2025
Admission routes1
Has abstractno

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