A novel CASR variant in a family with familial hypocalciuric hypercalcaemia and primary hyperparathyroidism

por Sagi, Satyanarayana V, Joshi, Hareesh, Trotman, Jamie, Elsey, Terence, Swamy, Ashwini, Rajkanna, Jeyanthy, Bhat, Nazir A, Haddadin, Firas J S, Oyibo, Samson O, Park, Soo-Mi
Publicado 2020

The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer

por Trotman, Jamie, Armstrong, Ruth, Firth, Helen, Trayers, Claire, Watkins, James, Allinson, Kieren, Jacques, Thomas S., Nicholson, James C., Burke, G. A. Amos, Behjati, Sam, Murray, Matthew J., Hook, Catherine E., Tarpey, Patrick
Publicado 2022

Embryonal tumor with multilayered rosettes: Overview of diagnosis and therapy

por Chadda, Karan R, Solano-Páez, Palma, Khan, Sara, Llempén-López, Mercedes, Phyu, Poe, Horan, Gail, Trotman, Jamie, Tarpey, Patrick, Erker, Craig, Lindsay, Holly, Addy, Dilys, Jacques, Thomas S, Allinson, Kieren, Pizer, Barry, Huang, Annie, Murray, Matthew J
Publicado 2023

Recurrent FOSL1 rearrangements in desmoplastic fibroblastoma

por De Noon, Solange, Piggott, Robert, Trotman, Jamie, Tadross, John A, Fittall, Matthew, Hughes, Debbie, Ye, Hongtao, Munasinghe, Emani, Murray, Matthew, Tirabosco, Roberto, Amary, Fernanda, Coleman, Nicholas, Watkins, James, Hubank, Michael, Tarpey, Patrick, Behjati, Sam, Flanagan, Adrienne M
Publicado 2023

Recurrent posterior fossa group A (PFA) ependymoma in a young child with constitutional mismatch repair deficiency (CMMRD)

por Briggs, Mayen, Das, Anirban, Firth, Helen, Levine, Adrian, Sánchez‐Ramírez, Santiago, Negm, Logine, Ercan, Ayse B., Chung, Jill, Bianchi, Vanessa, Jalloh, Ibrahim, Phyu, Poe, Thorp, Nicky, Grundy, Richard G., Hawkins, Cynthia, Trotman, Jamie, Tarpey, Patrick, Tabori, Uri, Allinson, Kieren, Murray, Matthew J.
Publicado 2022