Deepali N. Shinde

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

Katherine L. Helbig, Kelly D. Farwell Hagman, Deepali N. Shinde et al. · Genetics in Medicine · 2016 · 360 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

Ingo Helbig, Tania López-Hernández, Oded Shor et al. · The American Journal of Human Genetics · 2019 · 132 citations · Full text

Life Sciences, Molecular Genetics, Neuroscience +17

Sequence dependence of isothermal DNA amplification via EXPAR

Jifeng Qian, Tanya M. Ferguson, Deepali N. Shinde et al. · Nucleic Acids Research · 2012 · 120 citations · Full text

Life Sciences, Bioinformatics, Molecular Biology +16

Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications

Erica D. Smith, Kelly Radtke, Mari Rossi et al. · Human Mutation · 2017 · 119 citations · Full text

Life Sciences, Clinical Sciences, Molecular Genetics +14

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Jung‐Hyun Kim, Deepali N. Shinde, Margot R.F. Reijnders et al. · The American Journal of Human Genetics · 2016 · 117 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17