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Record W3027349817 · doi:10.1016/j.ajhg.2020.04.015

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas

2020· article· en· W3027349817 on OpenAlexaff
Dara Tolchin, J. Paige Yeager, Priya Prasad, Naghmeh Dorrani, Alvaro Serrano Russi, Julián A. Martínez-Agosto, Abdul Haseeb, Marco Angelozzi, Gijs W.E. Santen, Claudia Ruivenkamp, Saadet Mercimek‐Andrews, Christel Depienne, Alma Kuechler, Barbara Mikat, Hermann‐Josef Lüdecke, Frédéric Bilan, Gwenaël Le Guyader, Brigitte Gilbert‐Dussardier, Boris Keren, Solveig Heide, Damien Haye, Hilde Van Esch, Liesbeth Keldermans, Damara Ortiz, Emily Lancaster, Ian D. Krantz, Bryan L. Krock, Kieran B. Pechter, Alexandre Arkader, Līvija Medne, Elizabeth T. DeChene, Eduardo Calpena, Giada Melistaccio, Andrew O.M. Wilkie, Mohnish Suri, Nicola Foulds, John C. Ambrose, Marta Bleda, J. M. Boissiere, C. R. Boustred, Mark J. Caulfield, G. C. Chan, C.E.H. Craig, Louise C. Daugherty, Anna de Burca, A. Devereau, Greg Elgar, Rebecca E. Foulger, Tom Fowler, Pedro Furió‐Tarí, J.M. Hackett, Dina Halai, John E. Holman, Tim Hubbard, Dalia Kasperavičiūtė, Melis Kayikci, L. Lahnstein, Keith A. Lawson, S. E. A. Leigh, Ivone Leong, Fabrice Lopez, F. Maleady-Crowe, James Mason, Ellen M. McDonagh, Loukas Moutsianas, M. Mueller, Anna C. Need, Christopher A. Odhams, C. Patch, D. Perez-Gil, Dimitris Polychronopoulos, J. Pullinger, T. Rahim, Augusto Rendon, Tim Rogers, Mina Ryten, K. Savage, Richard H. Scott, Afshan Siddiq, A. Sieghart, Damian Smedley, Kirstin Smith, Alona Sosinsky, Will Spooner, Hallam Stevens, Alexander Stuckey, Ellen Thomas, Sam Thompson, C. Tregidgo, Arianna Tucci, Elizabeth J. Walsh, Scott Watters, M. J. Welland, Eric O. Williams, Kate Witkowska, Shalandra Wood, Magdalena Zarowiecki, Amber Begtrup, Lindsay B. Henderson, Cara Forster, Patrick Reed, Marie McDonald, Allyn McConkie‐Rosell, Julien Thévenon, Pauline Le Tanno, Charles Coutton, Anne Tsai, Sarah Stewart, Aleš Maver, Rudolf Gorazd, Olivier Pichon, Mathilde Nizon, Benjamin Cogné, Bertrand Isidor, Dominique Martin‐Coignard, Radka Stoeva, Véronique Lefebvre, Cédric Le Caignec

Bibliographic record

VenueThe American Journal of Human Genetics · 2020
Typearticle
Languageen
FieldImmunology and Microbiology
Topicinterferon and immune responses
Canadian institutionsSickKids FoundationHospital for Sick ChildrenUniversity of Toronto
FundersMedical Research CouncilCancer Research UKWellcome TrustAgence Nationale de la RechercheChildren's Hospital of Philadelphia
KeywordsHaploinsufficiencyGeneticsBiologyTestis determining factorMissense mutationCraniosynostosisNonsenseAllelePhenotypeAutismNeurodevelopmental disorderGenePsychologyY chromosome

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: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.891
Threshold uncertainty score0.441

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 studies0.0000.001
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 head0.019
GPT teacher head0.243
Teacher spread0.224 · 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

Citations35
Published2020
Admission routes1
Has abstractno

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