Nayia Nicolaou
Sheffield Children's NHS Foundation Trust(GB)Cyprus Institute of Neurology and Genetics(CY)
Publications by Year
Research Areas
Parkinson's Disease Mechanisms and Treatments, Neurological diseases and metabolism, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Renal and related cancers
Most-Cited Works
- → Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study(2012)1,213 cited
- → Genetic, environmental, and epigenetic factors involved in CAKUT(2015)330 cited
- → The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions(2012)269 cited
- → Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease(2012)205 cited
- → A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease(2012)139 cited
- → Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome(2012)128 cited
- → Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT(2015)111 cited
- → De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia(2016)35 cited
- → First reported case of Steel syndrome in the European population: A novel homozygous mutation in COL27A1 and review of the literature(2020)15 cited