Katherine B. Sims

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Elizabeth T. Cirulli, Brittany N. Lasseigne, Slavé Petrovski et al. · Science · 2015 · 981 citations · Full text

Life Sciences, Neurology, Neuroscience +17

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

Michael E. Talkowski, Jill A. Rosenfeld, Ian Blumenthal et al. · Cell · 2012 · 600 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry

William R. Wilcox, João Paulo Oliveira, Robert J. Hopkin et al. · Molecular Genetics and Metabolism · 2007 · 539 citations

Medicine, Pathology, Systemic Pathology +2

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

Katherine R. Smith, John A. Damiano, Silvana Franceschetti et al. · The American Journal of Human Genetics · 2012 · 492 citations · Full text

Life Sciences, Genetics, Neurology +17

Vasoactive intestinal polypeptide (VIP) in mouse and rat brain: An immunocytochemical study

Katherine B. Sims, Donald L. Hoffman, Sami I. Said et al. · Brain Research · 1980 · 394 citations

Life Sciences, Neurobiology, Neuroscience +7