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

por Antoniadi, Thalia, Buxton, Chris, Dennis, Gemma, Forrester, Natalie, Smith, Debbie, Lunt, Peter, Burton-Jones, Sarah
Publicado 2015

Phenotypic variability of TRPV4 related neuropathies

por Evangelista, Teresinha, Bansagi, Boglarka, Pyle, Angela, Griffin, Helen, Douroudis, Konstantinos, Polvikoski, Tuomo, Antoniadi, Thalia, Bushby, Kate, Straub, Volker, Chinnery, Patrick F., Lochmüller, Hanns, Horvath, Rita
Publicado 2015

Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland

por Bansagi, Boglarka, Antoniadi, Thalia, Burton-Jones, Sarah, Murphy, Sinead M., McHugh, John, Alexander, Michael, Wells, Richard, Davies, Joanna, Hilton-Jones, David, Lochmüller, Hanns, Chinnery, Patrick, Horvath, Rita
Publicado 2015

Genetic heterogeneity of motor neuropathies

por Bansagi, Boglarka, Griffin, Helen, Whittaker, Roger G., Antoniadi, Thalia, Evangelista, Teresinha, Miller, James, Greenslade, Mark, Forester, Natalie, Duff, Jennifer, Bradshaw, Anna, Kleinle, Stephanie, Boczonadi, Veronika, Steele, Hannah, Ramesh, Venkateswaran, Franko, Edit, Pyle, Angela, Lochmüller, Hanns, Chinnery, Patrick F., Horvath, Rita
Publicado 2017

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

por Eggermann, Katja, Bliek, Jet, Brioude, Frédéric, Algar, Elizabeth, Buiting, Karin, Russo, Silvia, Tümer, Zeynep, Monk, David, Moore, Gudrun, Antoniadi, Thalia, Macdonald, Fiona, Netchine, Irène, Lombardi, Paolo, Soellner, Lukas, Begemann, Matthias, Prawitt, Dirk, Maher, Eamonn R, Mannens, Marcel, Riccio, Andrea, Weksberg, Rosanna, Lapunzina, Pablo, Grønskov, Karen, Mackay, Deborah JG, Eggermann, Thomas
Publicado 2016

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

por Holt, Richard J., Young, Rodrigo M., Crespo, Berta, Ceroni, Fabiola, Curry, Cynthia J., Bellacchio, Emanuele, Bax, Dorine A., Ciolfi, Andrea, Simon, Marleen, Fagerberg, Christina R., van Binsbergen, Ellen, De Luca, Alessandro, Memo, Luigi, Dobyns, William B., Mohammed, Alaa Afif, Clokie, Samuel J.H., Zazo Seco, Celia, Jiang, Yong-Hui, Sørensen, Kristina P., Andersen, Helle, Sullivan, Jennifer, Powis, Zöe, Chassevent, Anna, Smith-Hicks, Constance, Petrovski, Slavé, Antoniadi, Thalia, Shashi, Vandana, Gelb, Bruce D., Wilson, Stephen W., Gerrelli, Dianne, Tartaglia, Marco, Chassaing, Nicolas, Calvas, Patrick, Ragge, Nicola K.
Publicado 2019