Evidence from 2100 index cases supports genome sequencing as a first-tier genetic testFen Guo, Madhuri Hegde, Ruby Liu et al.|Genetics in Medicine|2023Cited by 23
Enhancing Fabry disease screening and diagnostic efficiency: Integration of enzyme, biomarker, and next-generation sequencing testingYinghong Pan, Madhuri Hegde, Ruby Liu et al.|Molecular Genetics and Metabolism|2025Cited by 4
P729: Identification of multiple diagnoses in pediatric patients through genome sequencingChristin Collins, Madhuri Hegde, Fen Guo et al.|Genetics in Medicine Open|2024Cited by 1
P519: Evidence of complex inheritance patterns in limb-girdle and other muscular dystrophies: Synergistic heterozygosity and multigenic inheritanceMadhuri Hegde, Ruby Liu, Babi Ramesh Reddy Nallamilli et al.|Genetics in Medicine Open|2023Cited by 1
P679: Ultrarapid whole genome sequencing facilitates early definitive diagnosis of rare genetic disordersBabi Ramesh Reddy Nallamilli, Madhuri Hegde, Jagannathan Lakshmanan et al.|Genetics in Medicine Open|2024Cited by 0