{"meta":{"page":1,"per_page":50,"max_per_page":100,"total":2,"total_is_capped":false,"direct_labels_cover":0,"predictions_cover":2,"direct_label_status":"direct model label, unvalidated","prediction_status":"machine_predicted_unvalidated (Codex and Gemma teacher distillation)","score_status":"score_only:v0-immature-baseline (scores rank; they never assert a category)","snapshot":{"source":"OpenAlex, pinned release, all 482 partitions","release":"2026-06-24","frame_built":"2026-07-12","author_layer_release":"2026-06-26"},"query_hash":"79e03c76e976","filters":{"venue":"Journal of Rare Disorders: Diagnosis & Therapy"}},"results":[{"id":"W1804467304","doi":"","title":"Muscle MRI in Classic InfantilePompe Disease","year":2015,"lang":"en","type":"article","venue":"Journal of Rare Disorders: Diagnosis & Therapy","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true},"ca_institutions":"","funders":"","keywords":"Enzyme replacement therapy; Magnetic resonance imaging; Medicine; Context (archaeology); Glycogen storage disease type II; Muscle hypertrophy; Muscle biopsy; Fabry disease; Muscle weakness; Biopsy; Disease; Weakness; Pathology; Radiology; Internal medicine; Surgery; Biology","authors":[{"name":"Stephan C.A. Wens","is_ca":false},{"name":"Tessa E van Doeveren","is_ca":false},{"name":"Maarten H. Lequin","is_ca":false},{"name":"Carin M. Van Gelder","is_ca":false},{"name":"Robert M. Verdijk","is_ca":false},{"name":"Hannerieke J van der Hout","is_ca":false},{"name":"Pieter A. van Doorn","is_ca":false},{"name":"Ans T. van der Ploeg","is_ca":false},{"name":"I.F.M. de Coo","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.04044837054714726,"gpt":0.3262240304518733,"spread":0.2857756599047261,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004322895,0.000709378,0.0003196068,0.001593647,0.0002704817,0.0003229583,0.0003292082,0.000727113,0.001951668],"category_scores_gemma":[0.001466481,0.000297936,0.0001413387,0.0004799419,0.0005311144,0.000421008,0.0006058539,0.0003354165,0.0003243861],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003035679,"about_ca_system_score_gemma":0.0001805516,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009909213,"about_ca_topic_score_gemma":0.001385073,"domain_scores_codex":[0.999796,0.00004197214,0.00003243061,0.00005448511,0.00003558642,0.00003952114],"domain_scores_gemma":[0.9996823,0.0000755646,0.0001011871,0.00001768756,0.00003824723,0.00008501508],"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":[0.0009595709,0.0001778098,0.3345784,0.0004070483,0.0001262704,0.6020368,0.0005816399,0.0003617709,0.03653019,0.0002443416,0.0009495836,0.02304664],"study_design_scores_gemma":[0.00005409291,0.0006163067,0.3153585,0.00006221706,0.00006698741,0.6792976,0.0002804967,0.0004393784,0.002864126,0.00010932,0.0008394286,0.00001154622],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9957806,0.001475077,0.0004371073,0.00009730481,0.00001891912,0.00003018209,0.00007974612,0.00002322042,0.002057862],"genre_scores_gemma":[0.9986545,0.0004297566,0.0005298343,0.00006933472,0.00002428281,0.000007557626,0.00006221433,0.000003343967,0.0002191432],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001951668,"threshold_uncertainty_score":0.006528974,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2507405597","doi":"","title":"Contiguous Gene Deletion of Chromosome Xp in Three FamiliesEncompassing OTC, RPGR and TSPAN7 Genes","year":2015,"lang":"en","type":"article","venue":"Journal of Rare Disorders: Diagnosis & Therapy","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Alberta Health Services","funders":"","keywords":"Ornithine transcarbamylase deficiency; Genetics; Gene; Biology; Urea cycle; Phenotype; Chromosome; Arginine","authors":[{"name":"Shailly Jain‐Ghai","is_ca":true},{"name":"Stephanie Skinner","is_ca":false},{"name":"Jessica N. Hartley","is_ca":false},{"name":"Stéphanie Fox","is_ca":false},{"name":"Daniela Buhaş","is_ca":false},{"name":"Cheryl R. Greenberg","is_ca":false},{"name":"Alicia K.J. Chan","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.02126700077861283,"gpt":0.2657460801980555,"spread":0.2444790794194427,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003116947,0.001681325,0.0008221451,0.001407772,0.001290763,0.0007483242,0.00070401,0.001326718,0.002926677],"category_scores_gemma":[0.001778612,0.0005485451,0.0008480941,0.0007800738,0.001592659,0.0004066171,0.001304813,0.0007370091,0.000298888],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000683387,"about_ca_system_score_gemma":0.0005388611,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002394586,"about_ca_topic_score_gemma":0.00219869,"domain_scores_codex":[0.9993724,0.00009444656,0.00008087113,0.0001827113,0.0001268927,0.0001426759],"domain_scores_gemma":[0.9991008,0.0003372158,0.0001829877,0.00007038855,0.00006344822,0.0002452268],"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":[0.0001614444,0.00008387357,0.04609787,0.00005038895,0.00005943682,0.9322448,0.0009751999,0.0002899914,0.01175164,0.0005070742,0.0002904212,0.007487758],"study_design_scores_gemma":[0.00002754198,0.0001472837,0.03842904,0.00002043736,0.0000659594,0.9551049,0.0003383537,0.0002523026,0.003907304,0.0001695386,0.001508024,0.00002920966],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960335,0.0006210769,0.00132394,0.0002411073,0.00003910702,0.00002931901,0.0001329025,0.00004609229,0.001532981],"genre_scores_gemma":[0.9974885,0.0003538164,0.001035994,0.0001261993,0.00005476993,0.00002067416,0.0001267326,0.00002074734,0.0007725706],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002926677,"threshold_uncertainty_score":0.009790719,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null}]}