J. Mayr

发表论文 275 篇 · 总被引 11537 次 · h-index 65

代表论文

• How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques (2022 · Journal of Inherited Metabolic Disease · 被引 60)
• PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production (2023 · Science Translational Medicine · 被引 33)
• Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation (2022 · Science Advances · 被引 33)
• Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier (2022 · Nutrients · 被引 28)
• Hydrogen Sulfide Metabolizing Enzymes in the Intestinal Mucosa in Pediatric and Adult Inflammatory Bowel Disease (2022 · Antioxidants · 被引 23)
• Expression of Oxidative Phosphorylation Complexes and Mitochondrial Mass in Pediatric and Adult Inflammatory Bowel Disease (2022 · Oxidative Medicine and Cellular Longevity · 被引 21)