{"id":"W4394621384","doi":"10.1002/ajmg.c.32087","title":"Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies <i>PCDHGA5</i> as a candidate neurodevelopmental disorder gene","year":2024,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part C Seminars in Medical Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"","keywords":"Intellectual disability; Autism spectrum disorder; Neurodevelopmental disorder; Autism; Exome sequencing; Genetic testing; Medicine; Anxiety; Psychiatry; Clinical psychology; Genetics; Gene; Biology; Internal medicine","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":[0.0001419553,0.0007901212,0.0003655614,0.001048211,0.0007952247,0.0004675477,0.0003668693,0.001224692,0.001889492],"category_scores_gemma":[0.000958137,0.0002079098,0.0003037123,0.0002902046,0.0004102143,0.0005480747,0.0004726713,0.0005813656,0.0003533692],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002706561,"about_ca_system_score_gemma":0.0002416145,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001545638,"about_ca_topic_score_gemma":0.001893077,"domain_scores_codex":[0.9998504,0.00001686684,0.00001255576,0.00005134605,0.00002429555,0.00004453936],"domain_scores_gemma":[0.9997041,0.00008604312,0.00006295236,0.00001281443,0.00002126764,0.0001129584],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00007743214,0.00006509243,0.172726,0.00004435537,0.00001956906,0.80317,0.0007824856,0.0001245441,0.01282839,0.0003263402,0.0007674319,0.009068474],"study_design_scores_gemma":[0.000004716235,0.0001667211,0.06609765,0.0000312522,0.00002224782,0.9300638,0.0003982566,0.0003448485,0.001400015,0.0002417069,0.001214594,0.00001416986],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9905124,0.001244163,0.001487599,0.0009914096,0.00004517857,0.00004771767,0.0001531431,0.00009573932,0.005422686],"genre_scores_gemma":[0.9977113,0.0003749791,0.0008625125,0.0002527465,0.00005854578,0.000007757983,0.00006265688,0.000006580881,0.0006629729],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001889492,"threshold_uncertainty_score":0.006321013,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008574465246064361,"score_gpt":0.2710210777832819,"score_spread":0.2624466125372175,"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."}}