{"id":"W3166403003","doi":"10.1002/mgg3.1726","title":"Autosomal dominant variants in<i>FOXJ1</i>causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus","year":2021,"lang":"en","type":"article","venue":"Molecular Genetics & Genomic Medicine","topic":"Cystic Fibrosis Research Advances","field":"Medicine","cited_by":44,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre","funders":"National Center for Advancing Translational Sciences; National Heart, Lung, and Blood Institute; Rare Diseases Clinical Research Network","keywords":"Primary ciliary dyskinesia; Hydrocephalus; Obstructive hydrocephalus; Medicine; Dyskinesia; Bioinformatics; Pediatrics; Internal medicine; Biology; Surgery; Disease; Parkinson's disease","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":[0.0003019258,0.002399824,0.0008945772,0.002204066,0.002327116,0.001071342,0.0009626343,0.003286466,0.001857455],"category_scores_gemma":[0.002306266,0.0008434915,0.001021884,0.0008811913,0.001801241,0.0007202417,0.001560768,0.001768269,0.0003235552],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00130696,"about_ca_system_score_gemma":0.0008439574,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004851389,"about_ca_topic_score_gemma":0.004543482,"domain_scores_codex":[0.9992378,0.00003980026,0.00007554461,0.0002624028,0.0001475862,0.0002369796],"domain_scores_gemma":[0.9985159,0.0002520338,0.0002843777,0.0000550946,0.0001096701,0.0007829323],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0001039958,0.0001073585,0.03424567,0.00002175702,0.00002356145,0.9592876,0.0006832486,0.00006253733,0.003801002,0.0001948326,0.0003111164,0.00115729],"study_design_scores_gemma":[0.00005954914,0.0003417494,0.09354907,0.00002478635,0.00003676421,0.9033744,0.0003500321,0.0002649943,0.001001077,0.0001951165,0.0007639537,0.00003853775],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9961165,0.0004021403,0.0005356123,0.0005584235,0.0001358186,0.00009034348,0.0001685979,0.00003962969,0.00195288],"genre_scores_gemma":[0.9982558,0.000109928,0.0004059951,0.0004100554,0.0001227597,0.00001722,0.0001109179,0.00001917395,0.00054817],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004851389,"threshold_uncertainty_score":0.009646297,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006688501953310206,"score_gpt":0.2651910540021312,"score_spread":0.258502552048821,"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."}}