{"id":"W3210996906","doi":"10.2139/ssrn.3931622","title":"Variants in ADD1 Cause Intellectual Disability, Corpus Callosum Dysgenesis, and Ventriculomegaly in Humans","year":2021,"lang":"en","type":"article","venue":"SSRN Electronic Journal","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Alberta","funders":"Common Fund; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; National Cancer Institute; National Human Genome Research Institute; Ministério da Ciência, Tecnologia e Ensino Superior; National Institute of Mental Health; National Heart, Lung, and Blood Institute; Fundação para a Ciência e a Tecnologia; European Regional Development Fund; International Business Machines Corporation; National Institutes of Health; University of Alberta; National Institute on Drug Abuse; Manton Center for Orphan Disease Research, Boston Children's Hospital; NIH Office of the Director; Children's Hospital of Philadelphia","keywords":"Ventriculomegaly; Dysgenesis; Intellectual disability; Corpus callosum; Medicine; Genetics; Pathology; Anatomy; Biology","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":[0.0003052555,0.002414579,0.0007216246,0.001994559,0.001041622,0.0008390368,0.0006677668,0.001916102,0.006125048],"category_scores_gemma":[0.001070905,0.0003586055,0.0007623294,0.00139653,0.00088246,0.0002703036,0.0007019108,0.0007496593,0.001343753],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003107124,"about_ca_system_score_gemma":0.000238673,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001873139,"about_ca_topic_score_gemma":0.002293371,"domain_scores_codex":[0.9995956,0.00005895347,0.00006146266,0.0001412886,0.0001110118,0.00003169322],"domain_scores_gemma":[0.9991744,0.0002434208,0.0003377633,0.00006543408,0.00005427377,0.0001245888],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.009370343,0.0009101546,0.2427697,0.001124276,0.002502225,0.3157401,0.003583966,0.00458862,0.2917403,0.006315781,0.01322683,0.1081277],"study_design_scores_gemma":[0.0008255443,0.001314673,0.6060945,0.0007072158,0.003139052,0.2972256,0.001397485,0.005550453,0.03945873,0.008100394,0.03586094,0.000325405],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9881541,0.001875989,0.001915739,0.00053126,0.0002022496,0.00004548879,0.001802356,0.0002387949,0.005234016],"genre_scores_gemma":[0.9930952,0.0007112023,0.001723739,0.0002832418,0.0002544113,0.00002522121,0.001102369,0.00008957674,0.002714908],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006125048,"threshold_uncertainty_score":0.02049035,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01027487195465911,"score_gpt":0.2483471271230502,"score_spread":0.238072255168391,"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."}}