{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008757322,0.001966737,0.001066679,0.002214016,0.000910305,0.0007035908,0.001399384,0.002618193,0.006438218],"category_scores_gemma":[0.0003928444,0.00108308,0.0009821492,0.0007029933,0.001087914,0.0008938535,0.0008031483,0.003001187,0.002892926],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009638889,"about_ca_system_score_gemma":0.0006552343,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00104589,"about_ca_topic_score_gemma":0.001966168,"domain_scores_codex":[0.9988796,0.0001172006,0.0001660983,0.0003319987,0.0002737832,0.000231365],"domain_scores_gemma":[0.9993235,0.0000794369,0.0001634899,0.00008533786,0.00008215303,0.0002661451],"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":[0.0008593883,0.001457439,0.0006247382,0.0001650784,0.0000732288,0.0008622361,0.000213769,0.0003862797,0.9869409,0.002622434,0.001020475,0.004774049],"study_design_scores_gemma":[0.001661353,0.005698107,0.0100008,0.0002033368,0.0003627812,0.005902289,0.0003622859,0.007028811,0.9021788,0.001591474,0.06489186,0.0001181152],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9378605,0.002842653,0.03448313,0.001528423,0.0007071443,0.002401688,0.01041984,0.001636665,0.008119988],"genre_scores_gemma":[0.8674093,0.004130227,0.04463256,0.0009730628,0.0002091454,0.007976003,0.01531334,0.0006259675,0.05873035],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006438218,"threshold_uncertainty_score":0.02153802,"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."}}