Vikas Bhambhani
Children's Minnesota(US)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Autoimmune and Inflammatory Disorders Research, Genetic Syndromes and Imprinting
Most-Cited Works
- → Ethical and Policy Issues in Genetic Testing and Screening of Children(2013)391 cited
- → Delineating the GRIN1 phenotypic spectrum(2016)202 cited
- → Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline(2016)82 cited
- → Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction(2021)57 cited
- → SLC6A1variants identified in epilepsy patients reduce γ‐aminobutyric acid transport(2018)54 cited
- → Chediak‐Higashi syndrome presenting as young‐onset levodopa‐responsive parkinsonism(2013)48 cited
- → Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect(2018)44 cited
- → Mutation update for the SATB2 gene(2019)42 cited
- → Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease(2013)40 cited
- → Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis(2022)35 cited