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 · 972 citations · Full text

Engineering, Exome Sequencing, Genetics +18

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

Michael E. Talkowski, Jill A. Rosenfeld, Ian Blumenthal et al. · Cell · 2012 · 586 citations · Full text

Developmental Anomaly, Confer Risk, Developmental Biology +12

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 · 526 citations

Fabry Disease, Mendelian Disorder, Pathology +5

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 · 479 citations · Full text

Neurodegenerative Diseases, Mendelian Disorder, Genetic Disorder +15

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

Neuropeptides, Immunocytochemical Study, Neurophysiology +12