Himanshu Goel

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Emma M. Jenkinson, Mathieu P. Rodero, Paul R. Kasher et al. · Nature Genetics · 2016 · 147 citations · Full text

Medicine, Neurology, Neuroscience +11

Severe childhood speech disorder

Michael S. Hildebrand, Victoria E. Jackson, Thomas Scerri et al. · Neurology · 2020 · 120 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Radioprotection by a herbal preparation of Hippophae rhamnoides, RH-3, against whole body lethal irradiation in mice

Himanshu Goel, J. Prasad, Surinder Singh et al. · Phytomedicine · 2002 · 119 citations

Medicine, Medicinal Chemistry, Radiation Oncology +16

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

Clare V. Logan, Jennie Murray, David Parry et al. · The American Journal of Human Genetics · 2018 · 106 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Adam Bournazos, Lisa G. Riley, Shobhana Bommireddipalli et al. · Genetics in Medicine · 2021 · 104 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +17