{"id":"W4414533447","doi":"10.1016/j.ydbio.2025.09.016","title":"WNT4 deficiency impacts heart, diaphragm, and palate development: Insights from human genetics, machine learning, and mouse models","year":2025,"lang":"en","type":"article","venue":"Developmental Biology","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Mount Sinai Hospital","funders":"National Institutes of Health","keywords":"WNT4; Holoprosencephaly; Dysgenesis; Wnt signaling pathway; Candidate gene; Fetus; Gene; Testis determining factor; Placentation","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001263178,0.0002632859,0.0002473758,0.0001634554,0.0003566113,0.00004585736,0.0001484008,0.0002479037,0.00002345697],"category_scores_gemma":[0.00004569488,0.0002448598,0.00003321274,0.0001274742,0.0003032522,0.000008668841,0.0007093701,0.0002064349,0.00001345667],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004112674,"about_ca_system_score_gemma":0.0001911145,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001437774,"about_ca_topic_score_gemma":0.0007462002,"domain_scores_codex":[0.9984119,0.0001288012,0.000305341,0.0006428143,0.00009219335,0.000418983],"domain_scores_gemma":[0.999545,0.00003838462,0.00004406391,0.0001463376,0.00005803806,0.0001681878],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00005308049,0.00005436476,0.130719,0.00003141655,0.0001059815,0.000005364453,0.0003251543,0.000003824582,0.8625535,0.0001772142,0.00009897615,0.00587212],"study_design_scores_gemma":[0.002842301,0.0006019521,0.1889598,0.00006991003,0.00004206654,0.00006913735,0.0003532186,0.0007465332,0.6812073,0.002026425,0.1218144,0.001266887],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9885985,0.009571041,0.0001398847,0.00004590189,0.00005510024,0.0002558429,0.00002671914,0.00002728454,0.001279727],"genre_scores_gemma":[0.9953159,0.001064816,0.001696132,0.0002223591,0.00002310642,0.000027853,0.0005324635,0.00002180697,0.001095537],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1813462,"threshold_uncertainty_score":0.9985093,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01261089605219809,"score_gpt":0.2806887252884027,"score_spread":0.2680778292362046,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}