{"id":"W4220858252","doi":"10.1016/j.pediatrneurol.2022.03.005","title":"De Novo GLI3 Pathogenic Variants May Cause Hypotonia and a Range of Brain Malformations Without Skeletal Abnormalities","year":2022,"lang":"en","type":"article","venue":"Pediatric Neurology","topic":"Hedgehog Signaling Pathway Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre; Montreal Children's Hospital; McGill University","funders":"National Institute of Neurological Disorders and Stroke; National Human Genome Research Institute; McGill University; National Heart, Lung, and Blood Institute; Fonds de Recherche du Québec - Santé; National Institutes of Health; McGill University Health Centre","keywords":"GLI3; Hypotonia; Macrocephaly; Polydactyly; Corpus callosum; Cortical dysplasia; Megalencephaly; Encephalocele; Medicine; Agenesis; Epilepsy; Pathology; Anatomy; Biology; Genetics; Internal medicine; Neuroscience","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003645966,0.0001494842,0.0002065008,0.000117633,0.0002002716,0.000008255358,0.0001734565,0.00008613471,0.00003948879],"category_scores_gemma":[0.0001445969,0.000161619,0.00006738958,0.0001456308,0.0001282033,0.000004962737,0.0003811524,0.0001821095,0.000002702102],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007645367,"about_ca_system_score_gemma":0.0001261438,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002611528,"about_ca_topic_score_gemma":0.00001827755,"domain_scores_codex":[0.9987037,0.0002865712,0.0002765562,0.0002809415,0.0001243829,0.0003278056],"domain_scores_gemma":[0.9994391,0.00007679242,0.0001373282,0.000235147,0.00004572861,0.00006587624],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005242355,0.0002779454,0.8445396,0.0002125085,0.0002190194,0.0002249593,0.001990121,0.000654923,0.1468717,0.0006445933,0.003037319,0.0008030212],"study_design_scores_gemma":[0.009090663,0.008669133,0.887346,0.000004438633,0.0009240492,0.006659491,0.0008892314,0.0009059106,0.008157212,0.0009513473,0.07456706,0.00183552],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9967722,0.001550207,0.000197027,0.0006921684,0.0001696049,0.0001896016,0.0002131127,0.00001825253,0.000197835],"genre_scores_gemma":[0.9978492,0.000270263,0.0001685941,0.001112665,0.0002399465,0.00009810943,0.00003319183,0.00002313073,0.0002049529],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1387145,"threshold_uncertainty_score":0.6590632,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01191660881261418,"score_gpt":0.2377940020285832,"score_spread":0.225877393215969,"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."}}