{"id":"W4410058569","doi":"10.1002/ajmg.a.64093","title":"Further Delineation of the AUTS2 HX Repeat Domain‐Related Phenotype","year":2025,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"National Institute of Neurological Disorders and Stroke; National Institutes of Health; European Bioinformatics Institute; Wellcome Trust","keywords":"Haploinsufficiency; Phenotype; Biology; Intellectual disability; Craniofacial; Genetics; Neuroscience; Gene","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":[0.0002262307,0.0004108342,0.0002486185,0.0009087057,0.0001697124,0.0001964494,0.0001808601,0.0002814866,0.001353716],"category_scores_gemma":[0.0006328374,0.00009833486,0.0002254914,0.0004394031,0.0002917264,0.0002079763,0.0003974351,0.000229533,0.00026315],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001131698,"about_ca_system_score_gemma":0.0001633335,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007250676,"about_ca_topic_score_gemma":0.001061966,"domain_scores_codex":[0.9998471,0.00003067351,0.0000349808,0.00003696517,0.00003348914,0.00001685881],"domain_scores_gemma":[0.9997082,0.0001188671,0.00007722111,0.00002771616,0.00003749549,0.00003040076],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005727271,0.00009332765,0.3062395,0.0006846068,0.0001793687,0.3041016,0.002275188,0.000964587,0.2567289,0.001786196,0.002359247,0.1240146],"study_design_scores_gemma":[0.00003370275,0.0004119866,0.4267226,0.00007823804,0.0001031508,0.5396029,0.0005467385,0.0007010293,0.01916586,0.0007133858,0.01188645,0.00003389179],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9914871,0.002503058,0.001652176,0.0001008473,0.00002160943,0.00002415308,0.0002372957,0.0000620362,0.003911658],"genre_scores_gemma":[0.994913,0.00106413,0.002256408,0.0001031901,0.00002618711,0.00001125035,0.0005007588,0.00001688118,0.00110828],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001353716,"threshold_uncertainty_score":0.004528642,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004625053385030668,"score_gpt":0.2510594975036251,"score_spread":0.2464344441185944,"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."}}