{"id":"W4308954140","doi":"10.1242/dmm.049752","title":"17q12 deletion syndrome mouse model shows defects in craniofacial, brain and kidney development, and glucose homeostasis","year":2022,"lang":"en","type":"article","venue":"Disease Models & Mechanisms","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"Hassenfeld Child Health Innovation Institute; National Institutes of Health; Eagles Autism Foundation; Autism Science Foundation; Wellcome Trust; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; National Institute of Mental Health; Ontario Brain Institute; Brown University","keywords":"Haploinsufficiency; Craniofacial; Penetrance; Biology; Phenotype; Craniofacial abnormality; Neurodevelopmental disorder; Kidney; Genetics; Endocrinology; Gene","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003374286,0.001033265,0.000492651,0.001847652,0.0005344342,0.0003649839,0.0005841074,0.0009349817,0.008290222],"category_scores_gemma":[0.0002015346,0.0004219358,0.0004844735,0.0006369626,0.000676861,0.0004029647,0.0007857835,0.001424927,0.001886154],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003438914,"about_ca_system_score_gemma":0.0005495986,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009258566,"about_ca_topic_score_gemma":0.002192927,"domain_scores_codex":[0.9994324,0.00007224554,0.00005394736,0.0001583798,0.0001911548,0.00009183225],"domain_scores_gemma":[0.9997069,0.00003292702,0.0001059158,0.00003379048,0.00002302017,0.00009736593],"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":[0.0003344846,0.0001876942,0.001633146,0.0001083706,0.00003206553,0.0021935,0.000133222,0.0001837878,0.9829913,0.002130215,0.001409233,0.008662916],"study_design_scores_gemma":[0.0002506716,0.001216911,0.02185373,0.000137474,0.0001858715,0.0201155,0.0002339917,0.002368342,0.8919029,0.001362095,0.06029627,0.00007614368],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9521984,0.002984828,0.02455082,0.0009433067,0.0003733415,0.0001995475,0.006843905,0.001551619,0.01035424],"genre_scores_gemma":[0.9076253,0.005022194,0.03218834,0.0004193987,0.00007536355,0.0006743624,0.005942338,0.0005612829,0.04749135],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008290222,"threshold_uncertainty_score":0.02773356,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01772182063945442,"score_gpt":0.2501788998314066,"score_spread":0.2324570791919522,"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."}}