{"id":"W1982757630","doi":"10.1002/ajmg.a.32563","title":"Prenatal diagnosis of monosomy 1p36: A focus on brain abnormalities and a review of the literature","year":2008,"lang":"en","type":"review","venue":"American Journal of Medical Genetics Part A","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":43,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Calgary; McGill University","funders":"","keywords":"Holoprosencephaly; Monosomy; Ventriculomegaly; Prenatal diagnosis; Polymicrogyria; Single umbilical artery; Amniocentesis; Aneuploidy; Pathology; Fetus; Hydrocephalus; Medicine; Anatomy; Biology; Pregnancy; Karyotype; Genetics; Magnetic resonance imaging; Radiology; Chromosome","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":[0.0002756182,0.0009168836,0.00108888,0.005351961,0.000306425,0.0005575359,0.0007568312,0.0009257443,0.001600859],"category_scores_gemma":[0.001256954,0.0002800817,0.0003752931,0.004548315,0.0005787117,0.001069666,0.0004402232,0.0005978622,0.000662706],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003210415,"about_ca_system_score_gemma":0.0004502351,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009627449,"about_ca_topic_score_gemma":0.0013207,"domain_scores_codex":[0.9996557,0.00003383264,0.0001254171,0.00008083106,0.00007662293,0.00002756474],"domain_scores_gemma":[0.9991135,0.0004949757,0.000178456,0.00001908795,0.000118618,0.00007533213],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"systematic_review","study_design_scores_codex":[0.0002332677,0.0001343435,0.02237687,0.03817675,0.0004555589,0.1527173,0.0007246268,0.0007689334,0.01065081,0.001500181,0.04472051,0.7275408],"study_design_scores_gemma":[0.00002050141,0.0002002297,0.05464267,0.01400268,0.001159322,0.6963587,0.001017859,0.0003130867,0.001969724,0.001794492,0.2284148,0.0001059927],"study_design_candidate":"systematic_review","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.007326104,0.9899929,0.0004125878,0.0005317752,0.0002896082,0.00001167945,0.00007862611,0.00004468831,0.001311929],"genre_scores_gemma":[0.01733857,0.9803683,0.0006021202,0.0005633704,0.0006307451,0.00001170219,0.0001362136,0.000006825922,0.0003420989],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.005351961,"threshold_uncertainty_score":0.005355418,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01179933525023179,"score_gpt":0.2782879393127388,"score_spread":0.266488604062507,"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."}}