{"id":"W2118515070","doi":"10.1016/j.ajhg.2011.12.023","title":"Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly","year":2012,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Craniofacial Disorders and Treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":216,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University and Génome Québec Innovation Centre; Ottawa Hospital; McGill University; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Core Research for Evolutional Science and Technology; Canadian Institutes of Health Research","keywords":"Microcephaly; Treacher Collins syndrome; Haploinsufficiency; Choanal atresia; Genetics; Craniofacial; Biology; Sensorineural hearing loss; Hearing loss; Medicine; Pediatrics; Atresia; Phenotype; Anatomy; Audiology; 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":[0.0001760317,0.0008396235,0.0004931223,0.001073208,0.0004852479,0.0003901729,0.0005547831,0.001072659,0.003302548],"category_scores_gemma":[0.0004622626,0.000305431,0.0003518058,0.0004270096,0.0008458876,0.0001668337,0.0004753986,0.0006753571,0.0004068498],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003154402,"about_ca_system_score_gemma":0.0002690012,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008812589,"about_ca_topic_score_gemma":0.00140111,"domain_scores_codex":[0.9997713,0.00003996898,0.00004770994,0.00005296165,0.0000562925,0.00003184733],"domain_scores_gemma":[0.999647,0.0001431595,0.00007886979,0.00002744269,0.00001417718,0.00008931998],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0006032291,0.0001787086,0.006371174,0.0001140399,0.00008644941,0.04969549,0.0001523675,0.0007290821,0.9302574,0.00164452,0.0009882597,0.00917923],"study_design_scores_gemma":[0.0003932241,0.0004533375,0.07562366,0.00005446812,0.0004182236,0.1741733,0.0005374865,0.01038663,0.7217844,0.001430711,0.01465422,0.00009037613],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9945798,0.0004528402,0.001722321,0.0003520563,0.0001066818,0.00002200554,0.0005726856,0.0001639699,0.00202763],"genre_scores_gemma":[0.9975044,0.0001562112,0.0008540385,0.00007483533,0.00003510858,0.00001396419,0.0002396519,0.00005344299,0.00106841],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003302548,"threshold_uncertainty_score":0.01104814,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006571261239690726,"score_gpt":0.2513249202662955,"score_spread":0.2447536590266048,"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."}}