Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects

Johnson, B.; Lowe, G. C.; Futterer, J.; Lordkipanidzé, M.; Macdonald, D.; Simpson, M. A.; Sanchez-Guiú, I.; Drake, S.; Bem, D.; Leo, V.; Fletcher, S. J.; Dawood, B.; Rivera, J.; Allsup, D.; Biss, T.; Bolton-Maggs, P. H. B.; Collins, P.; Curry, N.; Grimley, C.; James, B.; Makris, M.; Motwani, J.; Pavord, S.; Talks, K.; Thachil, J.; Wilde, J.; Williams, M.; Harrison, P.; Gissen, P.; Mundell, S.; Mumford, A.; Daly, M. E.; Watson, S. P.; Morgan, N. V.; Lordkipanidze, M.; Sanchez-Guiu, I.; Bolton-Maggs, P. H.; on behalf of the UK GAPP Study Group

doi:10.3324/haematol.2016.146316

All Outputs (2)

Chemotherapy plus Ofatumumab at Standard or Mega dose in relapsed CLL (COSMIC) trial: study protocol for a phase II randomised controlled trial (2016)
Journal Article
Howard, D. R., Munir, T., Hockaday, A., Rawstron, A. C., Collett, L., Oughton, J. B., …Hillmen, P. (2016). Chemotherapy plus Ofatumumab at Standard or Mega dose in relapsed CLL (COSMIC) trial: study protocol for a phase II randomised controlled trial. Trials, 17(1), Article 456. https://doi.org/10.1186/s13063-016-1581-0

Background: Chronic lymphocytic leukaemia (CLL) is the most common adult leukaemia. Combination immunochemotherapy such as fludarabine, cyclophosphamide and rituximab is the standard first line therapy in fit patients, but there is limited evidence r... Read More about Chemotherapy plus Ofatumumab at Standard or Mega dose in relapsed CLL (COSMIC) trial: study protocol for a phase II randomised controlled trial.

Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects (2016)
Journal Article
Johnson, B., Lowe, G. C., Futterer, J., Lordkipanidzé, M., Macdonald, D., Simpson, M. A., …on behalf of the UK GAPP Study Group. (2016). Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects. Haematologica, 101(10), 1170-1179. https://doi.org/10.3324/haematol.2016.146316

© 2016 Ferrata Storti Foundation. Inherited thrombocytopenias are a heterogeneous group of disorders characterized by abnormally low platelet counts which can be associated with abnormal bleeding. Next-generation sequencing has previously been employ... Read More about Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects.