Mark D. Fleming

机构：Boston Children's Hospital, Harvard University, Boston Children's Museum · ORCID：0000-0003-0948-4024

发表论文 394 篇 · 总被引 32677 次 · h-index 83

代表论文

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease (2024 · The American Journal of Human Genetics · 被引 26)
Advancing precision care in pregnancy through a treatable fetal findings list (2025 · The American Journal of Human Genetics · 被引 10)
Murine models of erythroid 5ALA synthesis disorders and their conditional synthetic lethal dependency on pyridoxine (2024 · Blood · 被引 9)
Engineered bacterial lipoate protein ligase A (lplA) restores lipoylation in cell models of lipoylation deficiency (2024 · Journal of Biological Chemistry · 被引 7)
Alternative start codon selection shapes mitochondrial function and rare human diseases (2025 · Molecular Cell · 被引 6)
The GLYT1 inhibitor bitopertin mitigates erythroid PPIX production and liver disease in erythroid protoporphyria (2025 · Journal of Clinical Investigation · 被引 6)