{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000288936,0.0001584074,0.0003095182,0.00003605782,0.0001070807,0.00002933816,0.0002103682,0.00004475777,0.00002607777],"category_scores_gemma":[0.00006368757,0.0001107564,0.00008854386,0.0001490392,0.0007961913,0.000003878019,0.0001070602,0.0001876922,0.000001412478],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001505212,"about_ca_system_score_gemma":0.0001149833,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001889223,"about_ca_topic_score_gemma":0.00003424014,"domain_scores_codex":[0.9988326,0.000201795,0.0003587653,0.0001984456,0.0002197753,0.0001886508],"domain_scores_gemma":[0.998856,0.00005159145,0.0003823518,0.0003735004,0.0002359522,0.0001005786],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0005889742,0.0002560892,0.01457184,0.0000272926,0.00058857,0.0005462134,0.0008011379,0.0004156675,0.9748296,0.00001528171,0.00007380072,0.007285596],"study_design_scores_gemma":[0.00483258,0.06256495,0.1243208,0.0004415088,0.00186415,0.09855162,0.004886176,0.0002590269,0.6957072,0.002092001,0.002870794,0.001609181],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9970754,0.001050161,0.001612235,0.00008680089,0.00006873526,0.00006026847,0.00001026995,0.000003256495,0.00003283965],"genre_scores_gemma":[0.9984173,0.0003068776,0.0009240316,0.0001174253,0.0001349252,0.000001140603,0.000007490415,0.00002501277,0.00006576927],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2791223,"threshold_uncertainty_score":0.4516516,"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."}}