{"id":"W1520236834","doi":"10.1038/ejhg.2015.71","title":"DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies","year":2015,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Down syndrome and intellectual disability research","field":"Medicine","cited_by":155,"is_retracted":false,"has_abstract":false,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences","keywords":"Haploinsufficiency; Microcephaly; Intellectual disability; Biology; Genetics; Speech delay; DYRK1A; Chromosome 21; Short stature; Ataxia; Down syndrome; Phenotype; Gene; Chromosome; Endocrinology; Neuroscience","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":[0.001247038,0.0002889414,0.000553014,0.0001764991,0.0001394852,0.0001566197,0.0003336889,0.00003872471,0.0008808578],"category_scores_gemma":[0.0008903493,0.0002042914,0.0001245293,0.0003542888,0.0008255892,0.0001326293,0.0002392261,0.0004996729,0.0002151244],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001474879,"about_ca_system_score_gemma":0.0003589489,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002324721,"about_ca_topic_score_gemma":0.00002708267,"domain_scores_codex":[0.9974146,0.0003258608,0.000760578,0.0003349126,0.0007195536,0.0004444469],"domain_scores_gemma":[0.9979492,0.0001144023,0.0001832697,0.0003805635,0.0005049506,0.0008675631],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00353419,0.008015882,0.7145315,0.001003064,0.001283977,0.004298605,0.04170955,0.00006290836,0.01676936,0.00002465181,0.1700453,0.03872101],"study_design_scores_gemma":[0.01964664,0.2108824,0.5141761,0.002204402,0.001419228,0.1336531,0.01758078,0.0002137966,0.01352256,0.00103634,0.08353201,0.002132676],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.988512,0.001347903,0.0002931002,0.0003381374,0.00007475593,0.0002931905,0.000008029654,0.00002843899,0.009104442],"genre_scores_gemma":[0.9934646,0.0001562428,0.001588893,0.00007603614,0.0001659653,6.148647e-7,0.000006896891,0.00006322924,0.004477448],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2028665,"threshold_uncertainty_score":0.9644774,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08066885894698973,"score_gpt":0.3155149033532236,"score_spread":0.2348460444062339,"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."}}