{"id":"W2518799779","doi":"10.1016/j.nbd.2016.09.011","title":"Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function","year":2016,"lang":"en","type":"review","venue":"Neurobiology of Disease","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":34,"is_retracted":false,"has_abstract":false,"ca_institutions":"Jewish General Hospital; McGill University","funders":"National Institute of Neurological Disorders and Stroke; Natural Sciences and Engineering Research Council of Canada; National Institutes of Health; G. Harold and Leila Y. Mathers Charitable Foundation","keywords":"Intellectual disability; Biology; Neuroscience; Homeobox; Chromatin remodeling; Genetics; Transcription factor; 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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.00004366038,0.000475918,0.001018391,0.0001498391,0.00004707433,0.000004481637,0.0004468073,0.0004100908,0.00006131344],"category_scores_gemma":[0.00006027694,0.0003692152,0.0005926824,0.0001278186,0.0002509911,0.000003056406,0.000287623,0.0001096633,0.00003705406],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009216919,"about_ca_system_score_gemma":0.0002853227,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000004219633,"about_ca_topic_score_gemma":0.000003988095,"domain_scores_codex":[0.9978446,0.0002639981,0.0007027923,0.0008055387,0.0001208442,0.000262215],"domain_scores_gemma":[0.9984295,0.00005037025,0.0005630621,0.000701858,0.00007810583,0.000177039],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001099126,0.001411308,0.0009984208,0.01481684,0.002202637,0.00004177097,0.00003107015,0.000009518502,0.1706418,0.0001689712,0.004329321,0.8042492],"study_design_scores_gemma":[0.0007438021,0.00094454,0.01468378,0.001944414,0.001113135,0.00000588076,0.00000667011,3.001884e-7,0.001804583,0.0002215562,0.9777922,0.0007391125],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.1368816,0.8608547,0.00003261913,0.000009982227,0.00054137,0.0004585646,0.001116534,0.00001079411,0.00009387192],"genre_scores_gemma":[0.06291561,0.9348719,0.00003561547,0.0000744354,0.00004217851,0.00006684881,0.001759909,0.00007061206,0.0001628743],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9734629,"threshold_uncertainty_score":0.999876,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01433207238509396,"score_gpt":0.2460253683097057,"score_spread":0.2316932959246117,"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."}}