Madhuri Hegde

机构：BVI (United States) · ORCID：0000-0002-4500-0368

发表论文 289 篇 · 总被引 42252 次 · h-index 50

代表论文

Data-driven consideration of genetic disorders for global genomic newborn screening programs (2025 · Genetics in Medicine · 被引 41)
Enhancing Fabry disease screening and diagnostic efficiency: Integration of enzyme, biomarker, and next-generation sequencing testing (2025 · Molecular Genetics and Metabolism · 被引 4)
Unveiling non-coding <i>DMD</i> variants: synergising RNA sequencing and DNA sequencing for enhanced molecular diagnosis (2024 · Journal of Medical Genetics · 被引 3)
Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing (2024 · Human Mutation · 被引 2)
Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent (2024 · Journal of Molecular Diagnostics · 被引 2)
Elective genomic sequencing for adults in research, clinical and commercial contexts (2026 · medRxiv)