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Publications

Author Correction: Single-cell transcriptomics stratifies organoid models of metabolic dysfunction-associated steatotic liver disease.

Hess A, Gentile SD, Ben Saad A, et al. Author Correction: Single-cell transcriptomics stratifies organoid models of metabolic dysfunction-associated steatotic liver disease. The EMBO journal. 2024. doi:10.1038/s44318-024-00308-w

Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease.

Van Haute L, Páleníková P, Tang JX, et al. Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease. EMBO molecular medicine. 2024. doi:10.1038/s44321-024-00172-5

Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I.

Grady LO, Zoltick ES, Zouk H, et al. Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I. American journal of medical genetics. Part A. 2024:e63940. doi:10.1002/ajmg.a.63940

Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I.

Grady LO, Zoltick ES, Zouk H, et al. Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I. American journal of medical genetics. Part A. 2024:e63940. doi:10.1002/ajmg.a.63940

Comparative genomics reveals putative copper tolerance genes in a Fusarium oxysporum strain.

Ragasa LRP, Cuomo CA, Del Rosario RCH, Velarde MC. Comparative genomics reveals putative copper tolerance genes in a Fusarium oxysporum strain. G3 (Bethesda, Md.). 2024. doi:10.1093/g3journal/jkae272

Comparative genomics reveals putative copper tolerance genes in a Fusarium oxysporum strain.

Ragasa LRP, Cuomo CA, Del Rosario RCH, Velarde MC. Comparative genomics reveals putative copper tolerance genes in a Fusarium oxysporum strain. G3 (Bethesda, Md.). 2024. doi:10.1093/g3journal/jkae272

WONOEP appraisal: Targeted therapy development for early onset epilepsies.

Casillas-Espinosa PM, Wong JC, Grabon W, et al. WONOEP appraisal: Targeted therapy development for early onset epilepsies. Epilepsia. 2024. doi:10.1111/epi.18187

WONOEP appraisal: Targeted therapy development for early onset epilepsies.

Casillas-Espinosa PM, Wong JC, Grabon W, et al. WONOEP appraisal: Targeted therapy development for early onset epilepsies. Epilepsia. 2024. doi:10.1111/epi.18187

Targeting the aminopeptidase ERAP enhances antitumor immunity by disrupting the NKG2A-HLA-E inhibitory checkpoint.

Tsao HW, Anderson S, Finn KJ, et al. Targeting the aminopeptidase ERAP enhances antitumor immunity by disrupting the NKG2A-HLA-E inhibitory checkpoint. Immunity. 2024. doi:10.1016/j.immuni.2024.10.013

Targeting the aminopeptidase ERAP enhances antitumor immunity by disrupting the NKG2A-HLA-E inhibitory checkpoint.

Tsao HW, Anderson S, Finn KJ, et al. Targeting the aminopeptidase ERAP enhances antitumor immunity by disrupting the NKG2A-HLA-E inhibitory checkpoint. Immunity. 2024. doi:10.1016/j.immuni.2024.10.013