{"id":"W2912047881","doi":"10.1016/j.ajhg.2019.01.007","title":"Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes","year":2019,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"DNA Repair Mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":37,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children; SickKids Foundation; University of Toronto; Université de Montréal; Mount Sinai Hospital; Centre Hospitalier Universitaire Sainte-Justine","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Diabetes and Digestive and Kidney Diseases; European Research Council; Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research; Cancer Research UK; University of Birmingham; National Institutes of Health; Fundação de Amparo à Pesquisa do Estado de São Paulo; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Institute of Allergy and Infectious Diseases; Medical Research Council; National Center for Advancing Translational Sciences; National Human Genome Research Institute; Burroughs Wellcome Fund","keywords":"Biology; Zebrafish; Genetics; Phenotype; Short stature; Dysplasia; Allele; Gene; Endocrinology","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":[0.0003160461,0.001171193,0.0003891729,0.001804842,0.0005913289,0.0005130635,0.0006262386,0.0009716724,0.004825232],"category_scores_gemma":[0.0008211096,0.0004407352,0.0004252538,0.001050681,0.0006744286,0.0003142525,0.001196908,0.0005510513,0.001078125],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000288077,"about_ca_system_score_gemma":0.0002581351,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001224197,"about_ca_topic_score_gemma":0.003219617,"domain_scores_codex":[0.9994423,0.00007911215,0.00010277,0.00009619848,0.0002018888,0.00007761218],"domain_scores_gemma":[0.9992844,0.0001735642,0.0002363097,0.00005134582,0.00005851586,0.0001958705],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001747008,0.0002552435,0.1199585,0.0001417338,0.0002972205,0.0986544,0.0006025948,0.0006724675,0.7587348,0.003209105,0.001301603,0.01442537],"study_design_scores_gemma":[0.0002680444,0.0004766044,0.5405563,0.0001128965,0.0004394944,0.3942322,0.001153998,0.002953264,0.05055505,0.002697646,0.006423539,0.0001308487],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9933513,0.0004058823,0.001671778,0.0002270908,0.00003873035,0.00002848431,0.0007509031,0.000101431,0.003424541],"genre_scores_gemma":[0.9974748,0.0000943425,0.00105625,0.00009056517,0.00002182777,0.00001154905,0.0003098166,0.00004733038,0.0008934512],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004825232,"threshold_uncertainty_score":0.01614201,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00733221295187828,"score_gpt":0.2458338715529579,"score_spread":0.2385016586010796,"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."}}