Winnie Xin

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

Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes

Peter M. Andersen, Katherine B. Sims, Winnie Xin et al. · Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders · 2003 · 273 citations

Angiogenin loss‐of‐function mutations in amyotrophic lateral sclerosis

David M. Wu, Wenhao Yu, Hiroko Kishikawa et al. · Annals of Neurology · 2007 · 191 citations · Full text

A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System

John F. Staropoli, Amel Karaa, Elaine T. Lim et al. · The American Journal of Human Genetics · 2012 · 113 citations · Full text

Molecular Neuroscience, Medicine, Natural Sciences +6

Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

Michael Fietz, Moeenaldeen AlSayed, Derek Burke et al. · Molecular Genetics and Metabolism · 2016 · 97 citations · Full text

Creutzfeldt-jakob Disease, Neurological Disorder, Expert Recommendations +16