Madhuri Hegde

Career Trajectory

Research Cluster Map

Direct collaborators. Node size = influence, colour = community, dashed = past collaboration.

• Elective genomic sequencing for adults in research, clinical and commercial contexts

  medRxiv · 2026-06-18

• Phenotype-Driven In Silico Proficiency Testing Represents a Viable Approach for Undiagnosed Disorders by Exome Sequencing

  Archives of Pathology & Laboratory Medicine · 2026-02-11

• Identification of Multiple Sulfatase Deficiency (MSD) in newborn screening: A case study

  Molecular Genetics and Metabolism Reports · 2026-01-06

• P578: Lessons learned from incidental or secondary findings consented in clinical genome sequencing for pediatric patients

  Genetics in Medicine Open · 2026-01-01

• O42: Challenging paradigms to advance rare disease screening and early diagnosis: Development of a targeted metabolomics panel to expand newborn screening

  Genetics in Medicine Open · 2026-01-01

• P629: Detection of sequence variant and copy number mosaicism in genetic testing and its impact on clinical practice

  Genetics in Medicine Open · 2026-01-01

• P668: Challenges in newborn sequencing: Classification of variants with measurable biological dysfunction but limited clinical significance

  Genetics in Medicine Open · 2026-01-01

• O48: Insights from screening newborns by genome sequencing

  Genetics in Medicine Open · 2026-01-01

• O54: Molecular insights and cautionary tale of duplications in Duchenne and Becker muscular dystrophy across a large cohort

  Genetics in Medicine Open · 2026-01-01

• Development of a Clinical Tool to Aid in the Diagnosis of Duchenne Muscular Dystrophy (P7-6.010)

  Neurology · 2025-04-07

• Enhancing Fabry disease screening and diagnostic efficiency: Integration of enzyme, biomarker, and next-generation sequencing testing

  Molecular Genetics and Metabolism · 2025-03-15 · 4 citations

• Mucopolysaccharidosis type VII (MPS VII): A novel, online GUSB gene variant database

  Molecular Genetics and Metabolism · 2025-01-30

• P678: Role of de novo variants in genetic disorders with new insights and clinical implications

  Genetics in Medicine Open · 2025-01-01

• P631: Genome screening of newborns: What can we find and what’s next?*

  Genetics in Medicine Open · 2025-01-01

• P649: The clinical utility of genome sequencing in the molecular diagnosis of genes related to inborn errors of metabolism

  Genetics in Medicine Open · 2025-01-01

• P554: Newborn sequencing: Approaches taken by programs around the globe

  Genetics in Medicine Open · 2025-01-01

• P714: Enhancing laboratory efficiency: Implementation of Revvity Transcribe AI for automated data entry in newborn screening

  Genetics in Medicine Open · 2025-01-01

• P651: Genomic breakpoint analysis facilitates the identification of X-chromosomal inversion among molecularly unsolved cases of Duchenne muscular dystrophy

  Genetics in Medicine Open · 2025-01-01

• P718: Mucopolysaccharidosis type VII (MPS VII): A locus-specific database of GUSB gene variants, genotypes and phenotypes

  Genetics in Medicine Open · 2025-01-01

• P730: Genetic basis of dysferlinopathy: A comprehensive analysis of sequence and copy number variants from a large cohort of 686 patients

  Genetics in Medicine Open · 2025-01-01