Charul Gijavanekar

Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism

Ning Liu, Jing Xiao, Charul Gijavanekar et al. · JAMA Network Open · 2021 · 73 citations · Full text

Life Sciences, Biochemistry, Biochemical Genetics +14

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

Dmitrijs Rots, Taryn E. Jakub, Crystal Keung et al. · The American Journal of Human Genetics · 2023 · 31 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Biallelic variants in <i>SLC38A3</i> encoding a glutamine transporter cause epileptic encephalopathy

Dana Marafi, Jawid M. Fatih, Rauan Kaiyrzhanov et al. · Brain · 2021 · 25 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway

Brian J. Shayota, Taraka Donti, Jing Xiao et al. · Molecular Genetics and Metabolism · 2020 · 24 citations · Full text

Life Sciences, Biochemistry, Metabolism +14

Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency

Nishitha R. Pillai, Hitha Amin, Charul Gijavanekar et al. · American Journal of Medical Genetics Part A · 2020 · 23 citations

Life Sciences, Hematology, Neurology +17