Thalia Antoniadi

Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease

Michael N. Weedon, Robert Hastings, Richard Caswell et al. · The American Journal of Human Genetics · 2011 · 285 citations · Full text

Mendelian Disorder, Genetic Disorder, Exome Sequencing +10

Genetic heterogeneity of motor neuropathies

Boglárka Bánsági, Helen Griffin, Roger G. Whittaker et al. · Neurology · 2017 · 98 citations · Full text

Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: clinical, cytogenetic and molecular analysis

Voula Velissariou, Thalia Antoniadi, Jolanda Gyftodimou et al. · European Journal of Human Genetics · 2002 · 81 citations · Full text

Infertility, Developmental Biology, Cytogenetics +10

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome

Katja Eggermann, Jet Bliek, Frédéric Brioude et al. · European Journal of Human Genetics · 2016 · 81 citations · Full text

Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability

Thalia Antoniadi, Chris Buxton, Gemma Dennis et al. · BMC Medical Genetics · 2015 · 77 citations · Full text