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Record W4400652283 · doi:10.1016/j.ajhg.2024.06.008

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

2024· article· en· W4400652283 on OpenAlexaff
Dmitrijs Rots, Arianne Bouman, Ayumi Yamada, Michael A. Levy, Alexander J.M. Dingemans, Bert B.A. de Vries, Martina Ruiterkamp‐Versteeg, Nicole de Leeuw, Charlotte W. Ockeloen, Rolph Pfundt, Elke de Boer, Joost Kummeling, Bregje W.M. van Bon, Hans van Bokhoven, Nael Nadif Kasri, Hanka Venselaar, Mariëlle Alders, Jennifer Kerkhof, Haley McConkey, Alma Kuechler, Bart Elffers, Rixje van Beeck Calkoen, Susanna Hofman, Audrey Smith, Irene Valenzuela, Siddharth Srivastava, Zoë Frazier, Isabelle Maystadt, Carmelo Piscopo, Giuseppe Merla, Meena Balasubramanian, Gijs W.E. Santen, Kay Metcalfe, Soo‐Mi Park, Laurent Pasquier, Siddharth Banka, Dian Donnai, Daniel Weisberg, Gertrud Strobl‐Wildemann, Annemieke Wagemans, Maaike Vreeburg, Diana Baralle, Nicola Foulds, Ingrid Scurr, Nicola Brunetti‐Pierri, Johanna M. van Hagen, Emilia K. Bijlsma, Anna H. Hakonen, Carolina Courage, David Geneviève, Lucile Pinson, Francesca Forzano, Charu Deshpande, Maria L. Kluskens, Lindsey Welling, Astrid S. Plomp, Els K. Vanhoutte, Louisa Kalsner, Janna A. Hol, Audrey Putoux, Johanna Lazier, Pradeep Vasudevan, Elizabeth Ames, Jessica O'Shea, Damien Lederer, Julie Fleischer, Mary OʼConnor, M. Pauly, Georgia Vasileiou, André Reis, Cathy Kiraly‐Borri, Arjan Bouman, Chris Barnett, Marjan M. Nezarati, Lauren Borch, Gea Beunders, Kübra Özcan, Stéphanie Miot, Catharina M.L. Volker‐Touw, Koen L.I. van Gassen, Gerarda Cappuccio, Katrien Janssens, Nofar Mor, Inna Shomer, Dan Dominissini, Matthew L. Tedder, Alison M. Muir, Bekim Sadiković, Han G. Brunner, Lisenka E.L.M. Vissers, Yoichi Shinkai, Tjitske Kleefstra

Bibliographic record

VenueThe American Journal of Human Genetics · 2024
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicEpigenetics and DNA Methylation
Canadian institutionsChildren's Hospital of Eastern OntarioNorth York General HospitalWestern UniversityUniversity of TorontoLondon Health Sciences Centre
FundersMedical Research CouncilNederlandse Organisatie voor Wetenschappelijk OnderzoekManchester Biomedical Research CentreEuropean CommissionZonMwNational Institute for Health and Care Research
KeywordsPhenotypeGeneticsEpigeneticsBiologyHaploinsufficiencydNaMGenotypeDNA methylationGeneGene expression

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)0.001
metaresearch head score (Gemma)0.002
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: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.006
Threshold uncertainty score0.018

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.002
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0020.001
Science and technology studies0.0010.001
Scholarly communication0.0010.000
Open science0.0010.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0060.000

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 head0.012
GPT teacher head0.283
Teacher spread0.271 · 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

Citations20
Published2024
Admission routes1
Has abstractno

Explore more

Same venueThe American Journal of Human GeneticsSame topicEpigenetics and DNA MethylationFrench-language works237,207