Deeksha Bali

Medicine · Health Sciences

47h-index7.8kcitations197works0.22yr avg
OpenAlex↗ORCID↗Google Scholar↗

Accepting Students?

No reports yet. Know if this professor is taking students?

Research Topics

Lysosomal Storage Disorders Research(103), Glycogen Storage Diseases and Myoclonus(91), Carbohydrate Chemistry and Synthesis(38), Biochemical and Molecular Research(32), Genetics and Neurodevelopmental Disorders(25)

Publications197 total

The important role of CRIM analysis by western blot in the setting of novel GAA variants
Molecular Genetics and Metabolism·2026
Predicting subtypes of glycogen storage disease type IV: Challenges of hepatic subtypes and genotype-phenotype correlation
Molecular Genetics and Metabolism·2025
Cell modeling and rescue of a novel noncoding genetic cause of glycogen storage disease IX
Genetics in Medicine Open·2025Open Access
Focused ultrasound delivery of enzyme replacement therapy to the brain of Gaa−/− Pompe disease mice
Molecular Genetics and Metabolism·2025
Liver-directed AAV gene therapy in mice corrects glycogen storage disease type IX γ2
Science Advances·2025Open Access
Cell Modeling and Rescue of a Novel Non-coding Genetic Cause of Glycogen Storage Disease IX
2025Open Access
Metagenomic detection of a wide variety of viruses from Vietnamese bats
International Journal of Infectious Diseases·2025Open Access
Interim results from a first in human phase 1 clinical trial of in utero enzyme replacement therapy for lysosomal disorders
Molecular Genetics and Metabolism·2025
Pseudodeficiency: A poorly defined and misunderstood term in an era of precision medicine
Molecular Genetics and Metabolism·2025
North Carolina experience with newborn screening for mucopolysaccharidosis type II (Hunter syndrome)
Molecular Genetics and Metabolism·2025
Progressive liver disease and dysregulated glycogen metabolism in murine GSD IX γ2 models human disease
Molecular Genetics and Metabolism·2024· 2 citedOpen Access
Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity framework
Carolina Digital Repository (University of North Carolina at Chapel Hill)·2024Open Access
Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity framework
Molecular Genetics and Metabolism·2024· 1 citedOpen Access
Developing a scoring system for gene curation prioritization in lysosomal diseases
Molecular Genetics and Metabolism·2024· 1 citedOpen Access
In Utero Enzyme-replacement Therapy for Infantile-onset Pompe Disease
Obstetric Anesthesia Digest·2024
Assessment of genes involved in lysosomal diseases using the ClinGen Clinical Validity framework
2024Open Access
Development of a scoring system to define lysosomal diseases
Molecular Genetics and Metabolism·2024
Development of a scoring system to define lysosomal disease
Molecular Genetics and Metabolism·2024
Measurement of glycosaminoglycans in the amniotic fluid of fetuses with mucopolysaccharidoses treated in a phase I clinical trial by in utero enzyme replacement therapy
Molecular Genetics and Metabolism·2024
O39: The ClinGen Lysosomal Diseases Variant Curation Expert Panel’s guidance on classification of IDUA variants for mucopolysaccharidosis type I
Genetics in Medicine Open·2024Open Access
page 1 of 10Next →

Frequent Co-authors

Priya S. Kishnani(32), David S. Millington(10), Stephanie Austin(10), Sarah P. Young(10), Jennifer Goldstein(10), Dwight D. Koeberl(9), Catherine Rehder(8), David A. Weinstein(7), Jian Dai(6), Anne Boney(5), Hanna Mandel(4), Michael S. Watson(4), Pamela Arn(4), Stephanie Burns Wechsler(4), Joan Keutzer(4), Haoyue Zhang(4), Yuan-Tsong Chen(4), Keri Boyette(4), Marc Nicolino(3), Barry J. Byrne(3)