{"id":"W2345316450","doi":"10.1212/wnl.0000000000002740","title":"Delineating the <i>GRIN1</i> phenotypic spectrum","year":2016,"lang":"en","type":"article","venue":"Neurology","topic":"Epilepsy research and treatment","field":"Medicine","cited_by":207,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Calgary","funders":"Institute of Genetics; UCB Pharma; European Social Fund; Children's Hospital of Pittsburgh; Instituut Born-Bunge; Vlaamse regering; Exzellenzclusters Entzündungsforschung; Universitetet i Oslo; Centre National de la Recherche Scientifique; Université de Montréal; Centre hospitalier universitaire Sainte-Justine; Samfundet Folkhälsan; Fonds Wetenschappelijk Onderzoek; Leids Universitair Medisch Centrum; Carilion Clinic; Universiteit Leiden; Stanley Center for Psychiatric Research, Broad Institute; Université de Strasbourg; Institut National de la Santé et de la Recherche Médicale; Inselspital, Universitätsspital Bern; Deutsche Forschungsgemeinschaft; European Science Foundation; Universiteit Antwerpen; Syddansk Universitet; University of Pittsburgh; Children's Hospitals and Clinics of Minnesota; Children's Hospital of Philadelphia; Universität zu Köln; Broad Institute; Centre Hospitalier Universitaire de Clermont-Ferrand; Vrije Universiteit Brussel; Bundesministerium für Bildung und Forschung; Massachusetts General Hospital","keywords":"Phenotype; Psychology; Neuroscience; Genetics; Biology; 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":[],"consensus_categories":[],"category_scores_codex":[0.0001000059,0.00007052992,0.0001103644,0.00002123361,0.00006427228,0.000003893789,0.00007352002,0.00004021018,0.000356424],"category_scores_gemma":[0.0001182554,0.00002914009,0.00004579782,0.00006112031,0.00009398703,0.00001649316,0.0000443734,0.0001366285,0.0005204373],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001034355,"about_ca_system_score_gemma":0.00003912352,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003899968,"about_ca_topic_score_gemma":0.00006093638,"domain_scores_codex":[0.9992552,0.00006832162,0.0001027593,0.0001695644,0.000116791,0.0002873423],"domain_scores_gemma":[0.9993501,0.0002442905,0.0000222721,0.0002766336,0.00002243516,0.00008429163],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002675015,0.0003329556,0.8268963,0.00001741439,0.0001673484,0.0009096009,0.00008416426,0.000002383865,0.0237759,0.006471651,0.008678254,0.129989],"study_design_scores_gemma":[0.007348517,0.009260517,0.8058859,0.000027654,0.0001133198,0.001168385,0.000006799657,0.0001940969,0.01289755,0.005926913,0.1569896,0.0001806752],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8880152,0.0001656693,0.0001898524,0.1043607,0.0001153082,0.0001892067,0.000002851996,0.00004884215,0.006912296],"genre_scores_gemma":[0.9933992,0.000112291,0.00005540158,0.005291661,0.0003034824,0.00001918257,0.000001738801,0.00001156338,0.0008054872],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1483114,"threshold_uncertainty_score":0.6689342,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01969879191304696,"score_gpt":0.2812233933178993,"score_spread":0.2615246014048523,"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."}}