{"id":"W3158013157","doi":"10.1016/j.ajhg.2021.04.007","title":"Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism","year":2021,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Hippo pathway signaling and YAP/TAZ","field":"Biochemistry, Genetics and Molecular Biology","cited_by":40,"is_retracted":false,"has_abstract":false,"ca_institutions":"Alberta Children's Hospital; University of British Columbia","funders":"MSDAVENIR; National Eye Institute; Agence Nationale de la Recherche; National Human Genome Research Institute; National Heart, Lung, and Blood Institute; National Institutes of Health; ZonMw; University of Alabama at Birmingham; Ministry of Health and Family Welfare; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Broad Institute; Genome British Columbia; BC Children’s Hospital Foundation","keywords":"Haploinsufficiency; Missense mutation; Intellectual disability; Genetics; Biology; Loss function; Frameshift mutation; Neurodevelopmental disorder; Phenotype; Global developmental delay; Trinucleotide repeat expansion; Microcephaly; Locus (genetics); Speech delay; Allele; 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":[0.0003055851,0.002966994,0.0007125896,0.001534272,0.0007317293,0.0007204874,0.001010144,0.001881625,0.002732662],"category_scores_gemma":[0.00134781,0.0004560261,0.000759647,0.0009002644,0.001435529,0.0003161673,0.0009022558,0.000947699,0.0007784253],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004444909,"about_ca_system_score_gemma":0.0006000143,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001668021,"about_ca_topic_score_gemma":0.002744848,"domain_scores_codex":[0.999504,0.00005578424,0.00007754846,0.00015027,0.0001478655,0.00006449024],"domain_scores_gemma":[0.9989027,0.000383039,0.0003324196,0.0000491711,0.00005789391,0.0002747101],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0009360563,0.0001598602,0.03466551,0.000151114,0.0003793565,0.7374151,0.0005717274,0.001415273,0.2093331,0.0020378,0.00257932,0.01035585],"study_design_scores_gemma":[0.0003702932,0.0003805821,0.121293,0.00009669049,0.000497234,0.8188037,0.0005375038,0.003354869,0.04417536,0.002204431,0.008170481,0.0001159899],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9892013,0.0007686371,0.00358774,0.0009625365,0.0002023181,0.00005360056,0.001548369,0.0002864402,0.003389063],"genre_scores_gemma":[0.9945558,0.0002432138,0.002827413,0.0001999161,0.0001236758,0.0000247529,0.0004657823,0.00009719931,0.001462199],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002966994,"threshold_uncertainty_score":0.009141684,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01625292847197627,"score_gpt":0.2567724927523596,"score_spread":0.2405195642803834,"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."}}