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 · 145 citations · Full text

Neurological Disorder, Genetic Disorder, Pathology +5

Severe childhood speech disorder

Michael S. Hildebrand, Victoria E. Jackson, Thomas Scerri et al. · Neurology · 2020 · 119 citations · Full text

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 · 118 citations

Radiation Medicine, Medicine, Radiation Effect +8

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 · 99 citations

Medicine, Genetics, Rna Splicing +11

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish

Julie C. Van De Weghe, Tamara D. S. Rusterholz, Brooke Latour et al. · The American Journal of Human Genetics · 2017 · 88 citations · Full text

Basal Body Protein, Developmental Biology, Mendelian Disorder +8