Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma

por Carolina Jaramillo Oquendo, Helen Parker, David Oscier, Sarah Ennis, Jane Gibson, Jonathan C. Strefford
Publicado 2019

Whole exome sequencing identifies novel recurrently mutated genes in patients with splenic marginal zone lymphoma.

por Marina Parry, Matthew J J Rose-Zerilli, Jane Gibson, Sarah Ennis, Renata Walewska, Jade Forster, Helen Parker, Zadie Davis, Anne Gardiner, Andrew Collins, David G Oscier, Jonathan C Strefford
Publicado 2013

Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B)

por Chelsea S. Norman, Luke O’Gorman, Jane Gibson, Reuben J. Pengelly, Diana Baralle, J. Arjuna Ratnayaka, Helen Griffiths, Matthew Rose-Zerilli, Megan Ranger, David Bunyan, Helena Lee, Rhiannon Page, Tutte Newall, Fatima Shawkat, Christopher Mattocks, Daniel Ward, Sarah Ennis, Jay E. Self
Publicado 2017

A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping

por Luke O’Gorman, Chelsea S. Norman, Luke Michaels, Tutte Newall, Andrew H. Crosby, Christopher Mattocks, Angela J. Cree, Andrew J. Lotery, Emma L. Baple, J. Arjuna Ratnayaka, Diana Baralle, Helena Lee, Daniel Osborne, Fatima Shawkat, Jane Gibson, Sarah Ennis, Jay E. Self
Publicado 2019