{"id":"W2556180666","doi":"10.1016/j.celrep.2016.10.047","title":"DIXDC1 Phosphorylation and Control of Dendritic Morphology Are Impaired by Rare Genetic Variants","year":2016,"lang":"en","type":"article","venue":"Cell Reports","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":30,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; SickKids Foundation; Hamilton Health Sciences; University of Toronto; McMaster University; Population Health Research Institute","funders":"Universitätsklinikum Hamburg-Eppendorf; Natural Sciences and Engineering Research Council of Canada; Canadian Institutes of Health Research; Scottish Rite Charitable Foundation of Canada; Krembil Foundation; Ontario Institute for Cancer Research; Ontario Brain Institute","keywords":"Dendritic spine; Regulator; Biology; Neuroscience; Dendrite (mathematics); Phosphorylation; Gene isoform; Missense mutation; Autism; Fragile X syndrome; Neural development; Synapse; Cell biology; Genetics; Mutation; Gene; Medicine; Hippocampal formation","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":[0.0001787254,0.0009747429,0.0003973352,0.0007194328,0.0003362613,0.0002856928,0.0002887449,0.000585969,0.002068428],"category_scores_gemma":[0.0004931972,0.0002562521,0.0003319909,0.0004116634,0.0005348091,0.0001357342,0.0004514995,0.0003847853,0.0003041313],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002814734,"about_ca_system_score_gemma":0.0002016978,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001506787,"about_ca_topic_score_gemma":0.002314663,"domain_scores_codex":[0.9996864,0.00003901551,0.00005608196,0.0001083749,0.0000684566,0.00004167908],"domain_scores_gemma":[0.9996433,0.0000698428,0.0001795009,0.00002304494,0.00001878324,0.00006549445],"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":[0.00161187,0.00009143754,0.02972453,0.0001459086,0.0001965661,0.02533315,0.0002985021,0.001003161,0.9292144,0.001306039,0.0004780822,0.01059641],"study_design_scores_gemma":[0.0002326276,0.0005877022,0.4944579,0.00009788715,0.0005338166,0.1589156,0.0004442352,0.00540285,0.330209,0.00149948,0.007514808,0.0001039693],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968027,0.0003149589,0.001261932,0.00006439345,0.00001619887,0.00001107198,0.0006463184,0.00005694796,0.0008255331],"genre_scores_gemma":[0.9982723,0.0001890049,0.0007405392,0.00002996813,0.000008699402,0.000006681975,0.0002748448,0.00002850686,0.0004494567],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002068428,"threshold_uncertainty_score":0.006919563,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004213189849004208,"score_gpt":0.1877742525123188,"score_spread":0.1835610626633146,"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."}}