Winnie Xin
LabCorp (United States)(US)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Amyotrophic Lateral Sclerosis Research, Cellular transport and secretion, Neurogenetic and Muscular Disorders Research, Calcium signaling and nucleotide metabolism
Most-Cited Works
- → Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways(2015)976 cited
- → Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes(2003)277 cited
- → Angiogenin loss‐of‐function mutations in amyotrophic lateral sclerosis(2007)192 cited
- → A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System(2012)113 cited
- → Mutational spectrum of theNF2gene: a meta-analysis of 12 years of research and diagnostic laboratory findings(2006)106 cited
- → Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis(2016)103 cited
- → Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families(2012)82 cited
- → Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry(2015)74 cited
- → Ribonuclease 4 protects neuron degeneration by promoting angiogenesis, neurogenesis, and neuronal survival under stress(2012)63 cited
- → Identification and characterization of a novel DGAT1 missense mutation associated with congenital diarrhea(2017)61 cited