{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003412464,0.0008940733,0.0003051214,0.000962286,0.0002532916,0.000338147,0.0003726979,0.0004836798,0.002004966],"category_scores_gemma":[0.000967868,0.0001019454,0.0002419904,0.0002434062,0.0006134491,0.000295021,0.0005499473,0.0003562704,0.0003674855],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002172944,"about_ca_system_score_gemma":0.0001991489,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005791037,"about_ca_topic_score_gemma":0.0005480873,"domain_scores_codex":[0.9997764,0.00002886622,0.00003014208,0.00007189672,0.00004038233,0.00005232494],"domain_scores_gemma":[0.9996467,0.00007647528,0.0001237607,0.00001297248,0.0000566694,0.00008328575],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002057485,0.0003211465,0.5208418,0.0002906263,0.0001030174,0.1070271,0.0009108185,0.001031205,0.3229336,0.001747067,0.002241008,0.04049514],"study_design_scores_gemma":[0.0001585407,0.001061486,0.6017012,0.0001694351,0.0001588325,0.3469061,0.0008121377,0.001855581,0.04136666,0.001609321,0.00416242,0.00003840467],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9952242,0.0003673664,0.001469827,0.0002235804,0.000008099772,0.00002834955,0.0002213592,0.00005914219,0.00239817],"genre_scores_gemma":[0.9977944,0.000227853,0.0012518,0.0001426389,0.00002122148,0.00001299434,0.0002622227,0.00002290368,0.0002639607],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002004966,"threshold_uncertainty_score":0.006707251,"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."}}