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4,299,418 works, Canadian by any of four routes.

Every filter state is a URL; the URL is the query; the query is citable via /q/⟨hash⟩. The page, the API and the export parse the same parameters.

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The current cohort, streamed from the database: every work column, the machine labels, the provisional scores, and the per-row validation status. Exports are capped at 100,000 rows. Mints a permanent /q/ link for this exact query. The same filters always produce the same link, whoever asks.

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Molecular Genetics and Metabolism
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Direct Codex and Gemma labels are unvalidated and sparse. Distilled predictions cover the full frame and are also unvalidated. Choose the evidence source explicitly; absence of a direct label is never a negative label.

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The four routes compose: require the funder route and exclude affiliation to get the funder-only stratum no affiliation-based frame ever sees.

642 results · 1 filter active ·
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20002025
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Machine labels · sparse coverage
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An unlabeled work is unknown, not a negative. Label coverage is reported on every query.
642 works in the cohort · of 4,299,418page 4 of 13

Labels cover 0 of 642 works in this cohort. The rest are unlabeled, which is not a negative label: the label table is sparse today and grows as labeling rounds land.

Distilled predictions cover 642 of 642 works in this cohort. Predictions are machine_predicted_unvalidated teacher distillation outputs. Candidate is the union; consensus is the intersection.

afffundno abstractunlabeled
Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction
Päivi Vieira, Jessie M. Cameron, Elisa Rahikkala, Riikka Keski‐Filppula, Linhua Zhang, Saikat Santra +8 more
2017· article· en· Molecular Genetics and Metabolism· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · metaepi_narrowconsensus · none
44
citations
affno abstractunlabeled
The Undiagnosed Diseases Network International: Five years and more!
Domenica Taruscio, Gareth Baynam, Helene Cederroth, Stephen C. Groft, Eric W. Klee, Kenjiro Kosaki +4 more
2020· article· en· Molecular Genetics and Metabolism· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · noneconsensus · none
43
citations
affno abstractunlabeled
Characterization of the null murine sodium/myo-inositol cotransporter 1 (Smit1 or Slc5a3) phenotype: Myo-inositol rescue is independent of expression of its cognate mitochondrial ribosomal protein subunit 6 (Mrps6) gene and of phosphatidylinositol levels in neonatal brain
Roberto Buccafusca, Charles P. Venditti, Lawrence C. Kenyon, Roy A. Johanson, Elisabeth Van Bockstaele, Jun Ren +6 more
2008· article· en· Molecular Genetics and Metabolism· Medicine
distilled prediction:candidate · noneconsensus · none
42
citations
afffundno abstractunlabeled
Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio
Masoud Mokhtarani, George A. Díaz, William J. Rhead, Susan A. Berry, Uta Lichter‐Konecki, Annette Feigenbaum +22 more
2013· article· en· Molecular Genetics and Metabolism· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · metaepi_narrowconsensus · none
38
citations
afffundunlabeled
The genotypic and phenotypic spectrum of MTO1 deficiency
James J. O’Byrne, Maja Tarailo‐Graovac, Aisha Ghani, Michael Champion, Charu Deshpande, Ali Dursun +27 more
2017· article· en· Molecular Genetics and Metabolism· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · noneconsensus · none
38
citations
affno abstractunlabeled
“Hypotyrosinemia” in Phenylketonuria
Will Hanley, A.W. Lee, A.J.G. Hanley, Denis C. Lehotay, Valerie Austin, W.E. Schoonheyt +2 more
2000· article· en· Molecular Genetics and Metabolism· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · metaepi_narrowconsensus · none
37
citations
afffundno abstractunlabeled
Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome
Silvia Masnada, Catherine Sarret, Clara E. Antonello, Ala Fadilah, Heiko Krude, Eleonora Mura +14 more
2021· article· en· Molecular Genetics and Metabolism· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · noneconsensus · none
35
citations
affno abstractunlabeled
Hypertryptophanemia due to tryptophan 2,3-dioxygenase deficiency
Patrick Ferreira, Inchul Shin, Iveta Sosova, Kednerlin Dornevil, Shailly Jain, Deborah Dewey +2 more
2017· article· en· Molecular Genetics and Metabolism· Neuroscience
distilled prediction:candidate · metaepi_narrowconsensus · none
35
citations
affno abstractunlabeled
Renal involvement in PMM2-CDG, a mini-review
Ruqaiah Altassan, Peter Witters, Zubaida Saifudeen, Dulce Quelhas, Jaak Jaeken, Elena Levtchenko +2 more
2017· review· en· Molecular Genetics and Metabolism· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · metaepi_narrowconsensus · none
34
citations
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