D. Ward

发表

Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms

Paola Guglielmelli, Torsten Haferlach, William Tapper, 2015, Nature Communications.

Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients

A. Denniston, S. Ennis, A. Lotery, 2019, Scientific Reports.

Analysis of genomic breakpoints in p190 and p210 BCR–ABL indicate distinct mechanisms of formation

B. Nadel, R. Yeh, J. Melo, 2010, Leukemia.

Interlaboratory diagnostic validation of conformation-sensitive capillary electrophoresis for mutation scanning.

M. Ligtenberg, G. Matthijs, C. Mattocks, 2010, Clinical chemistry.

Autoimmunity/inflammation in a monogenic primary immunodeficiency cohort

C. Mattocks, R. Pengelly, S. Ennis, 2017, Clinical & translational immunology.

Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers

A. Murray, S. Ennis, D. Ward, 2006, European Journal of Human Genetics.

Inactivation of polycomb repressive complex 2 components in myeloproliferative and myelodysplastic/myeloproliferative neoplasms.

K. Döhner, A. Jones, A. Chase, 2012, Blood.

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

D. Baralle, F. Shawkat, C. Mattocks, 2017, Scientific Reports.

A novel germline gain-of-function variant in PIK3CD.

C. Mattocks, Anthony P. Williams, W. Rae, 2017, Clinical Immunology.

Clinical efficacy of a next‐generation sequencing gene panel for primary immunodeficiency diagnostics

C. Mattocks, R. Pengelly, D. Hunt, 2018, Clinical genetics.

Comparison of Mendeliome exome capture kits for use in clinical diagnostics

David Hunt, Reuben J. Pengelly, Daniel Ward, 2020, Scientific Reports.

Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients

A. Denniston, S. Ennis, A. Lotery, 2019, Scientific Reports.

Inter-laboratory diagnostic validation of conformation sensitive capillary electrophoresis

G. Matthijs, C. Mattocks, H. Scheffer, 2008 .

Evaluation of methods to detect CALR mutations in myeloproliferative neoplasms.

Helen E White, Daniel Ward, Matthew Lyon, 2015, Leukemia research.

Comparison of Mendeliome exome capture kits for use in clinical diagnostics

C. Mattocks, R. Pengelly, D. Hunt, 2020, Scientific Reports.

An unusual, activating insertion/deletion MPL mutant in primary myelofibrosis

N. Cross, S. Constantinescu, Y. Hoade, 2017, Leukemia.

Inactivation of polycomb repressive complex 2 components in myeloproliferative and myelodysplastic/myeloproliferative neoplasms.

K. Döhner, A. Jones, A. Chase, 2012, Blood.