Simon Topp

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Elizabeth T. Cirulli, Brittany N. Lasseigne, Slavé Petrovski et al. · Science · 2015 · 972 citations · Full text

Engineering, Exome Sequencing, Genetics +18

An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People

Matthew R. Nelson, Daniel Wegmann, Margaret G. Ehm et al. · Science · 2012 · 699 citations · Full text

Rare Functional Variants, Genetics, Genetic Epidemiology +23

Cloning and functional expression of a human orthologue of rat vanilloid receptor-1

Philip D. Hayes, H.J. Meadows, Martin J. Gunthorpe et al. · Pain · 2000 · 308 citations

Capsaicin Sensitive Phenotype, Rat Vanilloid Receptor-1, Cellular Physiology +18

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Kevin P. Kenna, Perry T.C. van Doormaal, Annelot M. Dekker et al. · Nature Genetics · 2016 · 278 citations · Full text

Neurodegenerative Diseases, Amyotrophic Lateral Sclerosis, Neurological Disorder +4

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

Bradley Smith, Simon Topp, Claudia Fallini et al. · Science Translational Medicine · 2017 · 243 citations · Full text