{"id":"W2106607706","doi":"10.1136/jmedgenet-2013-101603","title":"<i>FGFR1</i> mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly","year":2013,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Hedgehog Signaling Pathway Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":95,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Fonds De La Recherche Scientifique - FNRS; Fonds Erasme","keywords":"Ectrodactyly; Kallmann syndrome; Fibroblast growth factor receptor 1; Biology; Genetics; Hypogonadotropic hypogonadism; Holoprosencephaly; Mutation; Exome sequencing; Sanger sequencing; Phenotype; Ectodermal dysplasia; Gene; Medicine; Endocrinology; Internal medicine; Receptor; Fetus","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":[0.0001551162,0.0007035757,0.0002114369,0.0005370285,0.0003372774,0.0002212083,0.0002168668,0.0004217281,0.002064661],"category_scores_gemma":[0.0004602144,0.0001664313,0.0002175998,0.0002249322,0.0005456263,0.0001425846,0.0002620596,0.000321032,0.0002225279],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003150062,"about_ca_system_score_gemma":0.0002199521,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001692357,"about_ca_topic_score_gemma":0.002269565,"domain_scores_codex":[0.9998381,0.00001033177,0.00001684808,0.00005141534,0.00004804939,0.00003528354],"domain_scores_gemma":[0.9998038,0.00004824854,0.00008201532,0.000008718858,0.00001263712,0.00004461235],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.000566667,0.0001650968,0.3734874,0.0002914962,0.0002826982,0.1779393,0.001137423,0.001088564,0.3787777,0.0008899115,0.001995934,0.06337786],"study_design_scores_gemma":[0.0001227617,0.0003707596,0.4899748,0.0000462132,0.0002057558,0.434748,0.0002573196,0.0006724101,0.06873841,0.0003511296,0.004482945,0.00002953921],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9970751,0.0003430928,0.0008626865,0.00005719738,0.00000643211,0.00001626448,0.0001435392,0.00003689585,0.001458784],"genre_scores_gemma":[0.9986823,0.0001506546,0.0007706701,0.00002144398,0.0000111333,0.000004515083,0.00007882855,0.000005462333,0.000274861],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002064661,"threshold_uncertainty_score":0.006907046,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009975526497713747,"score_gpt":0.2609319413578643,"score_spread":0.2509564148601505,"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."}}