Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era

por Sabir, Ataf H., Morley, Elizabeth, Sheikh, Jameela, Calder, Alistair D., Beleza-Meireles, Ana, Cheung, Moira S., Cocca, Alessandra, Jansson, Mattias, Lillis, Suzanne, Patel, Yogen, Yau, Shu, Hall, Christine M., Offiah, Amaka C., Irving, Melita
Publicado 2021

Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines

por Mavraki, Eleni, Labrum, Robyn, Sergeant, Kate, Alston, Charlotte L., Woodward, Cathy, Smith, Conrad, Knowles, Charlotte V. Y., Patel, Yogen, Hodsdon, Philip, Baines, Jack P., Blakely, Emma L., Polke, James, Taylor, Robert W., Fratter, Carl
Publicado 2022

Role of Environmental Confounding in the Association between FKBP5 and First-Episode Psychosis

por Ajnakina, Olesya, Borges, Susana, Di Forti, Marta, Patel, Yogen, Xu, Xiaohui, Green, Priscilla, Stilo, Simona A., Kolliakou, Anna, Sood, Poonam, Marques, Tiago Reis, David, Anthony S., Prata, Diana, Dazzan, Paola, Powell, John, Pariante, Carmine, Mondelli, Valeria, Morgan, Craig, Murray, Robin M., Fisher, Helen L., Iyegbe, Conrad
Publicado 2014

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

por Macken, William L., Falabella, Micol, McKittrick, Caroline, Pizzamiglio, Chiara, Ellmers, Rebecca, Eggleton, Kelly, Woodward, Cathy E., Patel, Yogen, Labrum, Robyn, Phadke, Rahul, Reilly, Mary M., DeVile, Catherine, Sarkozy, Anna, Footitt, Emma, Davison, James, Rahman, Shamima, Houlden, Henry, Bugiardini, Enrico, Quinlivan, Rosaline, Hanna, Michael G., Vandrovcova, Jana, Pitceathly, Robert D. S.
Publicado 2022