{"id":"W2060736798","doi":"10.1002/ajmg.a.36673","title":"Fetal akinesia deformation sequence: Expanding the phenotypic spectrum","year":2014,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Fetal and Pediatric Neurological Disorders","field":"Medicine","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"Indian Council of Medical Research","keywords":"Fetus; Phenotype; In utero; Cerebellar hypoplasia (non-human); Anatomy; Cerebellum; Arthrogryposis; Ventriculomegaly; Biology; Craniofacial; Craniofacial abnormality; Hypoplasia; Muscle contracture; Pathology; Medicine; Pregnancy; Genetics; Neuroscience; Gene","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0008921887,0.0001230848,0.0003361319,0.00006904285,0.00007871127,0.00001985644,0.0002747589,0.00006073777,0.0002731668],"category_scores_gemma":[0.0005912474,0.00006521653,0.0001534033,0.000306727,0.0004632228,0.00003805256,0.00004706018,0.000510977,0.00003282941],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001936516,"about_ca_system_score_gemma":0.0001388205,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001067168,"about_ca_topic_score_gemma":0.000002763395,"domain_scores_codex":[0.9978698,0.0001609775,0.0005018121,0.0001092386,0.001099524,0.0002586492],"domain_scores_gemma":[0.9988286,0.0002256906,0.0003540905,0.0001560206,0.00007357728,0.0003619839],"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":[0.0009164414,0.0004519419,0.0568113,0.00009181647,0.0002264308,0.0002431722,0.00129889,0.000321443,0.001398193,0.0009318471,0.007495617,0.9298129],"study_design_scores_gemma":[0.01409319,0.0389542,0.4284209,0.0006478924,0.001946816,0.01504864,0.004247761,0.03824461,0.001943143,0.01569074,0.4392233,0.001538825],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9723756,0.0004034391,0.005093738,0.02072199,0.0003954713,0.00008964345,9.580114e-7,0.00001327897,0.0009058683],"genre_scores_gemma":[0.9930858,0.0009720012,0.0003504234,0.004527285,0.001015096,0.00000203676,0.000002305263,0.00001064563,0.00003442131],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9282741,"threshold_uncertainty_score":0.2990985,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01961829377985108,"score_gpt":0.2907834646635524,"score_spread":0.2711651708837013,"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."}}