Nayia Nicolaou

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Elisa Majounie, Alan E. Renton, Kin Y. Mok et al. · The Lancet Neurology · 2012 · 1.2K citations · Full text

Life Sciences, Molecular Genetics, Neurology +15

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions

Javier Simón‐Sánchez, Elise G.P. Dopper, Petra E. Cohn‐Hokke et al. · Brain · 2012 · 270 citations · Full text

Medicine, Genetics, Neurology +17

Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome

Nayia Nicolaou, Coert Margadant, Sietske H. Kevelam et al. · Journal of Clinical Investigation · 2012 · 130 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +17

Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT

Nayia Nicolaou, Sara L. Pulit, Isaäc J. Nijman et al. · Kidney International · 2015 · 116 citations

Life Sciences, Genetics, Molecular Genetics +17

De novo 14q24.2q24.3 microdeletion including <i>IFT43</i> is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia

Marijn F. Stokman, Machteld M. Oud, Ellen van Binsbergen et al. · American Journal of Medical Genetics Part A · 2016 · 35 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17