{"id":"W2588988310","doi":"10.1002/ajmg.a.37621","title":"A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy—Expanding NDST1 syndrome","year":2017,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Proteoglycans and glycosaminoglycans research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"B.C. Women's Hospital & Health Centre; BC Children's Hospital; University of British Columbia","funders":"Canadian Institutes of Health Research; Genome British Columbia; Michael Smith Health Research BC; Children's Hospital Foundation; Genome Canada","keywords":"Zebrafish; Ataxia; Craniofacial; Biology; Morpholino; Exome sequencing; Compound heterozygosity; Macrocephaly; Failure to thrive; Allele; Genetics; Heparan sulfate; Endocrinology; Mutation; Internal medicine; Medicine; Neuroscience; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001112999,0.001608649,0.0009451232,0.0009894769,0.0009540147,0.000388803,0.0004526199,0.001052936,0.001872046],"category_scores_gemma":[0.0005601984,0.0003626386,0.0003791515,0.0006527785,0.0006702,0.0005385695,0.001010104,0.0009972146,0.0005761442],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003805533,"about_ca_system_score_gemma":0.0004591982,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002446143,"about_ca_topic_score_gemma":0.002328509,"domain_scores_codex":[0.9998114,0.00001193669,0.00001771915,0.00008270572,0.00004705075,0.00002914529],"domain_scores_gemma":[0.9998077,0.0000486929,0.00004063086,0.0000101331,0.00001547856,0.00007746276],"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":[0.00006168328,0.00006172206,0.009836376,0.00007368553,0.00001914638,0.9580675,0.0004533533,0.0001279344,0.02211426,0.0004799061,0.001037367,0.007667156],"study_design_scores_gemma":[0.000009642543,0.0001129692,0.016383,0.00002439546,0.00001908301,0.9778531,0.0001294837,0.0001836029,0.002266205,0.0002234482,0.002779951,0.00001516218],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.977227,0.003164529,0.004318848,0.002411976,0.0002405057,0.0001265487,0.001306294,0.0004404003,0.0107639],"genre_scores_gemma":[0.9859612,0.002796208,0.003144098,0.0005523753,0.0001113632,0.00005486323,0.0004860794,0.00006771856,0.006826157],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002446143,"threshold_uncertainty_score":0.0062626,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02104918158948742,"score_gpt":0.304837271225134,"score_spread":0.2837880896356466,"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."}}