{"id":"W2078288169","doi":"10.1016/j.ajhg.2009.05.005","title":"Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations","year":2009,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Congenital Diaphragmatic Hernia Studies","field":"Medicine","cited_by":536,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University","funders":"Wellcome Trust","keywords":"Haploinsufficiency; Genetics; Biology; Candidate gene; Frameshift mutation; Gene; Phenotype","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00008728873,0.0005634043,0.0002483037,0.0006741199,0.0002221868,0.000117479,0.0002092373,0.0004134109,0.001583019],"category_scores_gemma":[0.0004912885,0.0001771349,0.0002201519,0.0003094483,0.0003574925,0.0000682951,0.0002193255,0.0002342182,0.0001967591],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001972108,"about_ca_system_score_gemma":0.0001281492,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008548907,"about_ca_topic_score_gemma":0.001449478,"domain_scores_codex":[0.9998119,0.0000148351,0.00001296813,0.00007819105,0.0000523027,0.000029725],"domain_scores_gemma":[0.999832,0.00003694777,0.00007059016,0.00001346747,0.000007743558,0.00003920031],"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":[0.0006266841,0.00008786737,0.09293575,0.0001512421,0.0001341752,0.02717625,0.0002451295,0.0006164639,0.8577312,0.0005073542,0.0004008317,0.01938716],"study_design_scores_gemma":[0.0001910814,0.0005612812,0.6939917,0.00005513888,0.0001905454,0.1953246,0.0001678317,0.001588285,0.09995915,0.0006183286,0.007318267,0.00003376257],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998377,0.0004225706,0.0005085965,0.00003377325,0.000006601369,0.000009377928,0.0003158766,0.00001541779,0.0003108732],"genre_scores_gemma":[0.9978528,0.000214838,0.0008856788,0.000022724,0.00001211951,0.00001752054,0.000427136,0.000007437483,0.000559779],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001583019,"threshold_uncertainty_score":0.005295694,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01665712609510826,"score_gpt":0.2788744829192623,"score_spread":0.262217356824154,"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."}}