{"id":"W4391399720","doi":"10.1186/s13023-024-03046-8","title":"Rett syndrome in Ireland: a demographic study","year":2024,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Trinity College","funders":"European Regional Development Fund; Irish Research Council; Science Foundation Ireland; Meath Foundation; Fondation Jérôme Lejeune; International Rett Syndrome Foundation","keywords":"Rett syndrome; MECP2; Population; Irish; Medicine; Human genetics; Psychiatry; Psychology; Genetics; Biology; Environmental health; Phenotype","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":[0.0006172321,0.0003324572,0.0004957091,0.001866388,0.0009442884,0.0006864268,0.0004961816,0.00053342,0.002076925],"category_scores_gemma":[0.00155421,0.0003153064,0.0005302426,0.001719777,0.0004952389,0.0008851468,0.001267605,0.0007537651,0.0007475683],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001449719,"about_ca_system_score_gemma":0.001344926,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.02551368,"about_ca_topic_score_gemma":0.02081455,"domain_scores_codex":[0.9991855,0.0001272603,0.000106555,0.0002065131,0.0001826942,0.000191364],"domain_scores_gemma":[0.9990645,0.00007747179,0.0002883385,0.00005531941,0.0001907558,0.0003236042],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00008341522,0.0001378774,0.9909046,0.00002816329,0.00002023743,0.002831463,0.001247233,0.00004511464,0.0003485599,0.00006090142,0.001098402,0.003193939],"study_design_scores_gemma":[0.00001036049,0.0002902566,0.9869752,0.00003013059,0.0000143466,0.007675724,0.00304116,0.0001102583,0.00004653034,0.00003373221,0.001752517,0.00001982485],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.996234,0.0001495815,0.00009958272,0.0001811544,0.00001237106,0.00006898308,0.001498915,0.000006344993,0.001749151],"genre_scores_gemma":[0.9964437,0.0003929718,0.0002283019,0.0003215044,0.00003103232,0.0001554151,0.001734735,0.000009604144,0.0006828236],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02551368,"threshold_uncertainty_score":0.05073035,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00704083357878712,"score_gpt":0.2386988375969933,"score_spread":0.2316580040182061,"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."}}