Michael J. Gambello

机构：Emory University · ORCID：0000-0001-6501-4962

发表论文 127 篇 · 总被引 10333 次 · h-index 48

代表论文

Chronic signaling via the metabolic checkpoint kinase mTORC1 induces macrophage granuloma formation and marks sarcoidosis progression (2017 · Nature Immunology · 被引 290)
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis (2019 · Genetics in Medicine · 被引 102)
Natural history and genotype‐phenotype correlations in 72 individuals with SATB2 ‐associated syndrome (2018 · American Journal of Medical Genetics Part A · 被引 77)
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects (2017 · Human Mutation · 被引 65)
Current strategies for the treatment of inborn errors of metabolism (2018 · Journal of genetics and genomics/Journal of Genetics and Genomics · 被引 62)
Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas (2018 · Molecular Genetics and Metabolism · 被引 60)