{"id":"W3100188494","doi":"10.1038/s41436-020-00993-y","title":"Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder","year":2020,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"North York General Hospital; Western University","funders":"Vlaamse regering; Deutsche Forschungsgemeinschaft","keywords":"Autism spectrum disorder; Genetics; Missense mutation; Exon; Nonsense; Intellectual disability; Frameshift mutation; Macrocephaly; Biology; Exome sequencing; Genotype; Allelic heterogeneity; Genotype-phenotype distinction; Phenotype; Autism; Medicine; Gene; Psychiatry","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":[0.0002445644,0.0003759122,0.0001832187,0.0005412202,0.0002648871,0.0002188929,0.0001699489,0.0002457434,0.001428233],"category_scores_gemma":[0.0008115693,0.00005966351,0.0001156182,0.0002370469,0.0003196671,0.0001336393,0.0004065805,0.0001760535,0.0002297881],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000994019,"about_ca_system_score_gemma":0.0001411014,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006842238,"about_ca_topic_score_gemma":0.0008440909,"domain_scores_codex":[0.9998249,0.00004446752,0.00002375275,0.00003883848,0.00003712326,0.00003095815],"domain_scores_gemma":[0.9997812,0.00005386978,0.0000792395,0.00001447054,0.00002731735,0.000043919],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002128706,0.00004810804,0.9516396,0.00003485568,0.00002119415,0.008427858,0.0003615588,0.000247718,0.02355946,0.000205481,0.0003080549,0.01493319],"study_design_scores_gemma":[0.00001492716,0.0002709139,0.9349813,0.0000299709,0.00002403033,0.05860978,0.0004409192,0.0004467572,0.003731877,0.0002674632,0.001173494,0.000008431442],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998848,0.0001421082,0.0003411639,0.00003481973,0.000001652978,0.000008581041,0.0001062593,0.000009515355,0.000507817],"genre_scores_gemma":[0.9990644,0.00007160378,0.000528963,0.00003885312,0.00000666945,0.00001031123,0.0001564528,0.000005265569,0.0001175792],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001428233,"threshold_uncertainty_score":0.004777968,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01352586729466057,"score_gpt":0.2845222607828185,"score_spread":0.270996393488158,"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."}}