{"id":"W4386979638","doi":"10.1093/hmg/ddad157","title":"Divergent phenotypes in constitutive versus conditional mutant mouse models of Sifrim-Hitz-Weiss syndrome","year":2023,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; University of Ottawa","funders":"Natural Sciences and Engineering Research Council of Canada; Canadian Institutes of Health Research; Canada Foundation for Innovation; Brain and Behavior Research Foundation; Simons Foundation Autism Research Initiative; National Alliance for Research on Schizophrenia and Depression; University of Ottawa","keywords":"Biology; Genetics; Phenotype; Conditional gene knockout; Context (archaeology); Chromodomain; Chromatin; Gene knockout; Gene; Neuroscience; Helicase","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":[0.0004073927,0.0009945839,0.0003549683,0.001667809,0.0002285418,0.0004362826,0.0004409016,0.0007775127,0.002789185],"category_scores_gemma":[0.0002643512,0.0003386349,0.00044466,0.0003181369,0.0008351667,0.0003545354,0.0004977309,0.001239926,0.0005869203],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003802374,"about_ca_system_score_gemma":0.0002835004,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006432833,"about_ca_topic_score_gemma":0.001666145,"domain_scores_codex":[0.9995093,0.00006385729,0.00007516381,0.0001631471,0.0001146815,0.00007384454],"domain_scores_gemma":[0.9996229,0.00006605282,0.0001200804,0.00003484256,0.00002013086,0.0001358568],"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":[0.0001204094,0.00005910894,0.0002846943,0.00002504239,0.00001025321,0.0002662797,0.00003514478,0.00007928554,0.9979075,0.0003473535,0.0000488526,0.0008161516],"study_design_scores_gemma":[0.0001163336,0.0008841121,0.01219922,0.0000399185,0.00007998924,0.004616766,0.0001767943,0.002003768,0.9752416,0.000413774,0.004198461,0.00002929552],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.988174,0.0008872817,0.006550331,0.0002198318,0.00007004823,0.00008516576,0.001610172,0.0003752887,0.00202776],"genre_scores_gemma":[0.9812855,0.001283646,0.006951354,0.0001685058,0.00002113604,0.0002081933,0.001765721,0.0002466332,0.008069296],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002789185,"threshold_uncertainty_score":0.009330809,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0267305894010971,"score_gpt":0.2629365885535365,"score_spread":0.2362059991524394,"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."}}