{"id":"W2164508925","doi":"10.1016/j.ejmg.2009.03.001","title":"The 12q14 microdeletion syndrome: Additional patients and further evidence that HMGA2 is an important genetic determinant for human height","year":2009,"lang":"en","type":"article","venue":"European Journal of Medical Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":56,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia; McGill University Health Centre","funders":"","keywords":"Haploinsufficiency; Short stature; Failure to thrive; HMGA2; Genetics; Microdeletion syndrome; Biology; Phenotype; Gene; Endocrinology","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":[0.0004923733,0.004406225,0.00175472,0.003629664,0.002310029,0.00122534,0.001744147,0.002932064,0.01335524],"category_scores_gemma":[0.002978964,0.00103736,0.001066733,0.001965658,0.001969179,0.001016147,0.001753433,0.001525027,0.001266774],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005515886,"about_ca_system_score_gemma":0.0006501556,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0027658,"about_ca_topic_score_gemma":0.001998248,"domain_scores_codex":[0.999007,0.0001236874,0.0001441154,0.0002726174,0.0002133303,0.0002392775],"domain_scores_gemma":[0.9982672,0.0006784225,0.0002832603,0.0001767061,0.00009384918,0.0005005727],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001306044,0.000408274,0.08118381,0.00009977238,0.000106574,0.8629478,0.003249009,0.0002815269,0.03718464,0.00100798,0.0006847333,0.01153984],"study_design_scores_gemma":[0.0001938994,0.0005325749,0.09865531,0.00002373535,0.0002493534,0.8862374,0.0009755995,0.0007547844,0.008258888,0.000913571,0.003099506,0.0001053007],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9942347,0.000315786,0.001191728,0.0005723173,0.00007626565,0.00005259192,0.0005722044,0.00008194308,0.002902497],"genre_scores_gemma":[0.9968746,0.0001615424,0.0008793573,0.0001356812,0.0001535664,0.00004323546,0.0002594612,0.00004326417,0.001449346],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01335524,"threshold_uncertainty_score":0.04467767,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01929961131487216,"score_gpt":0.2550675109228316,"score_spread":0.2357678996079595,"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."}}