Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing

por Stutterd, Chloe A, Brock, Stefanie, Stouffs, Katrien, Fanjul-Fernandez, Miriam, Lockhart, Paul J, McGillivray, George, Mandelstam, Simone, Pope, Kate, Delatycki, Martin B, Jansen, Anna, Leventer, Richard J
Publicado 2020

Resistance to Bleomycin-Induced Lung Fibrosis in MMP-8 Deficient Mice Is Mediated by Interleukin-10

por García-Prieto, Emilio, González-López, Adrián, Cabrera, Sandra, Astudillo, Aurora, Gutiérrez-Fernández, Ana, Fanjul-Fernandez, Miriam, Batalla-Solís, Estefanía, Puente, Xose S., Fueyo, Antonio, López-Otín, Carlos, Albaiceta, Guillermo M.
Publicado 2010

Neuropathology of childhood‐onset basal ganglia degeneration caused by mutation of VAC14

por Stutterd, Chloe, Diakumis, Peter, Bahlo, Melanie, Fanjul Fernandez, Miriam, Leventer, Richard J., Delatycki, Martin, Amor, David, Chow, Chung W., Stephenson, Sarah, Meisler, Miriam H., Mclean, Catriona, Lockhart, Paul J.
Publicado 2017

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants

por Rius, Rocio, Van Bergen, Nicole J., Compton, Alison G., Riley, Lisa G., Kava, Maina P., Balasubramaniam, Shanti, Amor, David J., Fanjul-Fernandez, Miriam, Cowley, Mark J., Fahey, Michael C., Koenig, Mary K., Enns, Gregory M., Sadedin, Simon, Wilson, Meredith J., Tan, Tiong Y., Thorburn, David R., Christodoulou, John
Publicado 2019

Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review

por Tan, Natalie B., Stapleton, Rachel, Stark, Zornitza, Delatycki, Martin B., Yeung, Alison, Hunter, Matthew F., Amor, David J., Brown, Natasha J., Stutterd, Chloe A., McGillivray, George, Yap, Patrick, Regan, Matthew, Chong, Belinda, Fanjul Fernandez, Miriam, Marum, Justine, Phelan, Dean, Pais, Lynn S., White, Susan M., Lunke, Sebastian, Tan, Tiong Y.
Publicado 2020