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Molecular Metabolism|July 14, 2026
Biallelic TXNIP deficiency is associated with a multisystemic metabolic diseaseJulia-Josefine Scholz, Sharlaine Y L Piel, Ioannis Evangelakos, et al.Nature Communications|January 3, 2024
Fatty acid synthesis suppresses dietary polyunsaturated fatty acid useAnna Worthmann, Julius Ridder, Sharlaine Y L Piel, et al.Brain : a Journal of Neurology|April 30, 2025
Pleiotropic effects of MORC2 derive from its epigenetic signatureFatemeh Peymani, Tomohiro Ebihara, Dmitrii Smirnov, et al.JCI Insight|February 23, 2026
Structural modeling and functional characterization of a novel gain-of-function TLR8 variant causing severe inflammatory syndromeNikolaos T Skenteris, Elisa Luttermann, Sanjana Nair, et al.Nature Communications|September 10, 2024
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviorsJana Willim, Daniel Woike, Daniel Greene, et al.Genome Medicine|September 17, 2025
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosisDaniel Kaschta, Christina Post, Franziska Gaass, et al.Nature Genetics|July 22, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.Pageof 4