Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation

por McCreary, Dara, Omoyinmi, Ebun, Hong, Ying, Mulhern, Ciara, Papadopoulou, Charalampia, Casimir, Marina, Hacohen, Yael, Nyanhete, Rodney, Ahlfors, Helena, Cullup, Thomas, Lim, Ming, Gilmour, Kimberly, Mankad, Kshitij, Wassmer, Evangeline, Berg, Stefan, Hemingway, Cheryl, Brogan, Paul, Eleftheriou, Despina
Publicado 2019

Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis

por Omoyinmi, Ebun, Standing, Ariane, Keylock, Annette, Price-Kuehne, Fiona, Melo Gomes, Sonia, Rowczenio, Dorota, Nanthapisal, Sira, Cullup, Thomas, Nyanhete, Rodney, Ashton, Emma, Murphy, Claire, Clarke, Megan, Ahlfors, Helena, Jenkins, Lucy, Gilmour, Kimberly, Eleftheriou, Despina, Lachmann, Helen J., Hawkins, Philip N., Klein, Nigel, Brogan, Paul A.
Publicado 2017

Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996–2020: development of a national resource of patient-level genomics labor...

por Loong, Lucy, Huntley, Catherine, McRonald, Fiona, Santaniello, Francesco, Pethick, Joanna, Torr, Bethany, Allen, Sophie, Tulloch, Oliver, Goel, Shilpi, Shand, Brian, Rahman, Tameera, Luchtenborg, Margreet, Garrett, Alice, Barber, Richard, Bedenham, Tina, Bourn, David, Bradshaw, Kirsty, Brooks, Claire, Bruty, Jonathan, Burghel, George J, Butler, Samantha, Buxton, Chris, Callaway, Alison, Callaway, Jonathan, Drummond, James, Durkie, Miranda, Field, Joanne, Jenkins, Lucy, McVeigh, Terri P, Mountford, Roger, Nyanhete, Rodney, Petrides, Evgenia, Robinson, Rachel, Scott, Tracy, Stinton, Victoria, Tellez, James, Wallace, Andrew J, Yarram-Smith, Laura, Sahan, Kate, Hallowell, Nina, Eccles, Diana M, Pharoah, Paul, Tischkowitz, Marc, Antoniou, Antonis C, Evans, D Gareth, Lalloo, Fiona, Norbury, Gail, Morris, Eva, Burn, John, Hardy, Steven, Turnbull, Clare
Publicado 2023