Sunita Bijarnia‐Mahay

Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening

Naoaki Shibata, Yuki Hasegawa, Kenji Yamada et al. · Molecular Genetics and Metabolism Reports · 2018 · 129 citations · Full text

Medicine, Biochemistry, Mass Spectrometric Analysis +13

<i>LYRM7</i>mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

Cristina Dallabona, Truus E. M. Abbink, Rosalba Carrozzo et al. · Brain · 2016 · 62 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians

Neethukrishna Kausthubham, Anju Shukla, Neerja Gupta et al. · Human Mutation · 2021 · 48 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Identification of mutations, genotype–phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients

Deepti Gupta, Sunita Bijarnia‐Mahay, Renu Saxena et al. · European Journal of Medical Genetics · 2015 · 38 citations

Life Sciences, Genetics, Molecular Genetics +16

Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India

Sunita Bijarnia‐Mahay, Sireesha Movva, Neerja Gupta et al. · JIMD Reports · 2014 · 36 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17