{"id":"W2063293509","doi":"10.1016/j.ajhg.2011.11.005","title":"TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone","year":2011,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":200,"is_retracted":false,"has_abstract":false,"ca_institutions":"Western University; Ottawa Hospital; Simon Fraser University; University of Manitoba; University of Calgary; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Center for Research Resources; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; National Human Genome Research Institute; National Institute of Diabetes and Digestive and Kidney Diseases; National Heart, Lung, and Blood Institute; National Eye Institute; Universitätsklinikum Köln; Canadian Institutes of Health Research; U.S. Department of Veterans Affairs","keywords":"Joubert syndrome; Transition (genetics); Medicine; Psychology; Developmental psychology; Biology; Genetics; Cilium; Gene","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003260191,0.0001653786,0.0002294978,0.00003753292,0.0001956777,0.00001415978,0.0004661148,0.00004356988,0.00002373047],"category_scores_gemma":[0.00001215536,0.00007063935,0.0001113015,0.0002087899,0.001051037,0.00000384031,0.0001117801,0.0001794103,7.627901e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009896256,"about_ca_system_score_gemma":0.00009822579,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008148835,"about_ca_topic_score_gemma":0.00004564366,"domain_scores_codex":[0.9987313,0.0002984198,0.0003792824,0.000146656,0.0002507379,0.0001936354],"domain_scores_gemma":[0.998922,0.00002748584,0.000463769,0.0004267503,0.00009250767,0.00006749562],"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":[0.001294617,0.0006916095,0.2308157,0.00003514142,0.001681007,0.00003396829,0.04022692,0.001048348,0.7080607,0.00002583346,0.0009018534,0.01518428],"study_design_scores_gemma":[0.001527471,0.002838644,0.9199269,0.00007933966,0.00042685,0.00069545,0.01049122,0.00004811393,0.06209235,0.0008544213,0.0007846198,0.0002345596],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9935324,0.005558325,0.0000307974,0.0004655311,0.00002403242,0.0002103158,0.00002797172,0.0000018133,0.0001488559],"genre_scores_gemma":[0.9985022,0.0007456648,0.00006529175,0.0005349816,0.00002218937,0.000006946855,0.000005322568,0.0000217595,0.00009563857],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6891112,"threshold_uncertainty_score":0.3872589,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005541631505173053,"score_gpt":0.2055642381911147,"score_spread":0.2000226066859416,"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."}}