{"id":"W4281394178","doi":"10.1093/hmg/ddac119","title":"Generation of a mouse model of the neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome","year":2022,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Chromatin Remodeling and Cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; University of Ottawa","funders":"Canadian Institutes of Health Research","keywords":"Biology; Microcephaly; Transcription factor; SWI/SNF; Limb development; Chromatin remodeling; Bromodomain; Genetics; PHD finger; Haploinsufficiency; Chromatin; Rett syndrome; Cell biology; Neurodevelopmental disorder; Gene; Phenotype; Epigenetics; Zinc finger","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00005038267,0.0001175085,0.0001143804,0.00002539892,0.0001591701,0.000009592473,0.0001549662,0.00003289113,0.000008075259],"category_scores_gemma":[0.000004279716,0.00009760109,0.00005086784,0.00005635716,0.0001502612,0.000001615831,0.0002636391,0.00006339709,5.560099e-8],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009206463,"about_ca_system_score_gemma":0.00006870788,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001219853,"about_ca_topic_score_gemma":0.00003345426,"domain_scores_codex":[0.9992375,0.00004915884,0.0001813024,0.0002108586,0.0002113299,0.0001098977],"domain_scores_gemma":[0.9995466,0.000001536674,0.0001055767,0.0002811735,0.00004193897,0.00002320253],"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":[0.00001466247,0.00004573294,0.001665164,0.00002363937,0.00003203269,0.000001012104,0.0001271529,0.08432204,0.9135679,0.00009247636,0.00002381489,0.00008439548],"study_design_scores_gemma":[0.0009845641,0.001083425,0.009926265,0.00001267335,0.00008094313,0.00009996135,0.0003339434,0.03889988,0.9477671,0.0001269482,0.0002971368,0.0003871114],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9962025,0.0008829631,0.002582469,0.0000225636,0.00002006123,0.00014754,0.00008256237,0.000003953425,0.00005542764],"genre_scores_gemma":[0.9985275,0.00004951182,0.0009222708,0.0000604247,0.000006910258,0.00002417055,0.00007506619,0.00002354149,0.0003105999],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04542217,"threshold_uncertainty_score":0.3980057,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01970133527864545,"score_gpt":0.2220921801970525,"score_spread":0.202390844918407,"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."}}