Maria Alejandra Diaz‐Miranda
Children's Hospital of Philadelphia(US)
Publications by Year
Research Areas
Mitochondrial Function and Pathology, Metabolism and Genetic Disorders, Hearing, Cochlea, Tinnitus, Genetics, Neonatal Respiratory Health Research, Genetic Neurodegenerative Diseases
Most-Cited Works
- → Local admixture of amplified and diversified secreted pathogenesis determinants shapes mosaic Toxoplasma gondii genomes(2016)272 cited
- → Modeling Monogenic Diabetes using Human ESCs Reveals Developmental and Metabolic Deficiencies Caused by Mutations in HNF1A(2019)83 cited
- → Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease(2021)26 cited
- → Temporal and spatial staging of lung alveolar regeneration is determined by the grainyhead transcription factor Tfcp2l1(2023)26 cited
- → Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield(2023)13 cited
- → Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss(2022)5 cited
- → Temporal and spatial staging of lung alveolar regeneration is determined by the grainyhead transcription factor Tfcp2l1(2022)1 cited
- → Advanced approaches for comprehensive mtDNA testing of mitochondrial disorders(2021)
- → Table of Contents, Volume 194A, Number 5, May 2024(2024)
- → P581: Multiple mitochondrial DNA deletions in patients with myopathy(2023)