{"id":"W1268103381","doi":"10.1016/j.ejmg.2015.08.004","title":"Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities","year":2015,"lang":"en","type":"article","venue":"European Journal of Medical Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":50,"is_retracted":false,"has_abstract":false,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"Universiteit Antwerpen; Fondation Jérôme Lejeune; Marguerite-Marie Delacroix foundation","keywords":"Macrocephaly; Microcephaly; Genetics; Non-allelic homologous recombination; Autism; Biology; Speech delay; Intellectual disability; Penetrance; Tetrasomy; Gene duplication; Allele; Subtelomere; Chromosome; Phenotype; Aneuploidy; 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":[0.0002407358,0.001733595,0.0006957717,0.001434972,0.001609908,0.0007413667,0.0006562928,0.001212254,0.004396438],"category_scores_gemma":[0.002685115,0.0007291749,0.0005671637,0.0008591536,0.001085447,0.000319399,0.0008943003,0.0006331626,0.0008224671],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005286005,"about_ca_system_score_gemma":0.0003781843,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002311943,"about_ca_topic_score_gemma":0.001565589,"domain_scores_codex":[0.9996229,0.00004710599,0.00004602175,0.0001133281,0.00006024941,0.0001103444],"domain_scores_gemma":[0.9989605,0.0003615642,0.0002701641,0.0001189866,0.00008347859,0.0002053008],"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":[0.001023537,0.0003300361,0.3445897,0.0001599118,0.0002048802,0.5843121,0.003926789,0.0006548151,0.04161074,0.0006785883,0.00111839,0.0213905],"study_design_scores_gemma":[0.00009664327,0.001198589,0.2275067,0.00002962491,0.000190549,0.7602566,0.00114001,0.0003732262,0.006444066,0.000584562,0.002098773,0.00008053514],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976237,0.0002501805,0.0006470587,0.0001124612,0.00002285867,0.00002878015,0.0001352421,0.00003379314,0.001146024],"genre_scores_gemma":[0.9985964,0.0001197413,0.0003856838,0.00007161011,0.00002092014,0.00001767274,0.0001352404,0.00001145752,0.0006412392],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004396438,"threshold_uncertainty_score":0.01470757,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00884266247839578,"score_gpt":0.2122241372018654,"score_spread":0.2033814747234697,"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."}}