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

Michael N. Weedon, Robert Hastings, Richard Caswell, +8

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderExome SequencingGeneticsPathology +8

Genetic heterogeneity of motor neuropathies

Boglárka Bánsági, Helen Griffin, Roger G. Whittaker, +16

Neurology

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

Voula Velissariou, Thalia Antoniadi, Jolanda Gyftodimou, +8

European Journal of Human Genetics

InfertilityDevelopmental BiologyCytogeneticsTrisomy 20Genetics +8

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, +21

European Journal of Human Genetics

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, +4

BMC Medical Genetics

Prevalence of factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations in a Greek population of blood donors

Thalia Antoniadi, T. Hatzis, E. Economou‐Petersen, +1

American Journal of Hematology

Genetic TestingGeneticsGenetic EpidemiologyHuman PolymorphismThrombosis +17

Prevalence of GJB2 mutations in prelingual deafness in the Greek population

John R. Economides, Vasiliki Iliadou, Polyxeni Neou, +15

International Journal of Pediatric Otorhinolaryngology

Mendelian DisorderGreek PopulationGenetic DisorderGeneticsAudiology +6

Cystic fibrosis mutation screening in CBAVD patients and men with obstructive azoospermia or severe oligozoospermia

Emmanouel Kanavakis, Maria Tzetis, Thalia Antoniadi, +3

Molecular Human Reproduction

Mendelian DisorderCbavd PatientsGenetic DisorderGeneticsSevere Oligozoospermia +13

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

Richard Holt, Rodrigo Young, Berta Crespo, +31

The American Journal of Human Genetics

Characterization of more than 85% of cystic fibrosis alleles in the Greek population, including five novel mutations

Emmanuel Kanavakis, Thalia Antoniadi, Stavros Doudounakis, +3

Human Genetics

Allelic VariantGreek PopulationGenetic DisorderMedicineGenetics +8