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2020
A novel translocation t(10;17)(p13;q11.2) harboring two cryptic deletions identified by array-CGH and characterized by SUZ12 overexpression in a patient with chronic thrombocytosis
Batanian, J. R., Malherbe, J. A. J. & Erber, W. N., 1 Nov 2020, In : Genes Chromosomes and Cancer. 59, 11, p. 661-666 6 p.Research output: Contribution to journal › Review article
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Diagnostic techniques in the assessment of haematological malignancies
Erber, W., 2020, Oxford Textbook of Medicine. Warrell, DA., Cox, TM. & Firth, JD. (eds.). 6 ed. Oxford University PressResearch output: Chapter in Book/Conference paper › Chapter
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Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome
NIHR BioResource, 22 Oct 2020, In : Blood. 136, 17, p. 1956-1967 12 p.Research output: Contribution to journal › Article
2 Citations (Scopus) -
Whole-genome sequencing of a sporadic primary immunodeficiency cohort
Primary Immunodeficiency Consortium for the NIHR Bioresource, 2 Jul 2020, In : Nature. 583, 7814, p. 90-95 6 p.Research output: Contribution to journal › Article
13 Citations (Scopus) -
Whole-genome sequencing of patients with rare diseases in a national health system
NIHR BioResource for the 100,000 Genomes Project, 2 Jul 2020, In : Nature. 583, 7814, p. 96-102 7 p.Research output: Contribution to journal › Article
22 Citations (Scopus) -
2019
Germline mutations in the transcription factor IKZF5 cause thrombocytopenia
Lentaigne, C., Greene, D., Sivapalaratnam, S., Favier, R., Seyres, D., Thys, C., Grassi, L., Mangles, S., Sibson, K., Stubbs, M., Burden, F., Bordet, J. C., Armari-Alla, C., Erber, W., Farrow, S., Gleadall, N., Gomez, K., Megy, K., Papadia, S., Penkett, C. J. & 11 others, , 5 Dec 2019, In : Blood. 134, 23, p. 2070-2081 12 p.Research output: Contribution to journal › Article
8 Citations (Scopus) -
Germline selection shapes human mitochondrial DNA diversity
NIHR Bioresource - Rare Dis & 100000 Genomes Project-Rare Dis, 24 May 2019, In : Science. 364, 6442, p. 749-+ 59 p.Research output: Contribution to journal › Article
Open Access42 Citations (Scopus) -
Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses
NIHR BioResource Collaborative Group, 1 Jun 2019, In : Haematologica. 104, 6, p. e260-e264Research output: Contribution to journal › Letter
Open Access6 Citations (Scopus) -
Platelets in myeloproliferative neoplasms have a distinct transcript signature in the presence of marrow fibrosis
Guo, B. B., Linden, M. D., Fuller, K. A., Phillips, M., Mirzai, B., Wilson, L., Chuah, H., Liang, J., Howman, R., Grove, C. S., Malherbe, J. A., Leahy, M. F., Allcock, R. J. & Erber, W. N., 19 Aug 2019, In : British Journal of Haematology.Research output: Contribution to journal › Article
2 Citations (Scopus) -
“Immuno-flowFISH” for the Assessment of Cytogenetic Abnormalities in Chronic Lymphocytic Leukemia
Hui, H. Y. L., Clarke, K. M., Fuller, K. A., Stanley, J., Chuah, H. H., Ng, T. F., Cheah, C., McQuillan, A. & Erber, W. N., 1 May 2019, In : Cytometry Part A. 95, 5, p. 521-533 13 p.Research output: Contribution to journal › Article
3 Citations (Scopus) -
2018
Automated enumeration of lymphoid and plasma cells in bone marrow to establish normal reference ranges
Liang, J., Malherbe, J. A. J., Fuller, K. A., Mirzai, B., George, C., Carter, T. L., Cole, C. H., Guo, B. B., Meehan, K. & Erber, W. N., 1 Oct 2018, In : Journal of Clinical Pathology. 71, 10, p. 916-925 10 p.Research output: Contribution to journal › Article
2 Citations (Scopus) -
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes
NIHR-BioResource Rare Diseases Consortium, 5 Jul 2018, In : American Journal of Human Genetics. 103, 1, p. 3-18 16 p.Research output: Contribution to journal › Article
Open Access15 Citations (Scopus) -
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures
NIHR BioResource & Care4Rare Canada Consortium, 5 Jul 2018, In : American Journal of Human Genetics. 103, 1, p. 144-153 10 p.Research output: Contribution to journal › Article
Open Access4 Citations (Scopus) -
Genetic characterisation of molecular targets in carcinoma of unknown primary
Clynick, B., Dessauvagie, B., Sterrett, G., Harvey, N. T., Allcock, R. J. N., Saunders, C., Erber, W. & Meehan, K., 4 Jul 2018, In : Journal of Translational Medicine. 16, 1, 185.Research output: Contribution to journal › Article
Open Access10 Citations (Scopus) -
Hepcidin predicts response to IV iron therapy in patients admitted to the intensive care unit: a nested cohort study
IRONMAN Study Investigators, Australian New Zealand Intensive C & Farmer, S., 10 Sep 2018, In : Journal of Intensive Care. 6, 7 p., 60.Research output: Contribution to journal › Article
Open Access6 Citations (Scopus) -
Imaging flow cytometry to assess chromosomal abnormalities in chronic lymphocytic leukaemia
Hui, H., Fuller, K. A., Chuah, H., Liang, J., Sidiqi, H., Radeski, D. & Erber, W. N., 1 Feb 2018, In : Methods. 134-135, p. 32-40 9 p.Research output: Contribution to journal › Article
6 Citations (Scopus) -
Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder
NIHR Bioresource - Rare Dis, 25 Sep 2018, In : Blood advances. 2, 18, p. 2341-2346 6 p.Research output: Contribution to journal › Article
10 Citations (Scopus) -
Red blood cell disorders
Sidiqi, H. & Erber, W., May 2018, Clinical Pharmacology. Bennett, PN., Brown, MJ. & Sharma, P. (eds.). 12 ed. China: Churchill Linvingstone, p. 528-542Research output: Chapter in Book/Conference paper › Chapter
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Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data
Farmery, J. H. R., Smith, M. L., Huissoon, A., Furnell, A., Mead, A., Levine, A. P., Manzur, A., Thrasher, A., Greenhalgh, A., Parker, A., Sanchis-Juan, A., Richter, A., Gardham, A., Lawrie, A., Sohal, A., Creaser-Myers, A., Frary, A., Greinacher, A., Themistocleous, A., Peacock, A. J. & 329 others, , 1 Dec 2018, In : Scientific Reports. 8, 1, 1300.Research output: Contribution to journal › Article
Open Access10 Citations (Scopus) -
2017
A mutation in PTPN11 may drive leukemic transformation in a case of essential thrombocythemia
Guo, B., Liang, J., Allcock, R., Mirzai, B., Augustson, B., Howman, R., Fuller, K. & Erber, W., 7 Jun 2017, In : LEUKEMIA & LYMPHOMA. 59, 1, p. 245-248Research output: Contribution to journal › Letter
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Applications of imaging flow cytometry in the diagnostic assessment of acute leukaemia
Grimwade, L. F., Fuller, K. A. & Erber, W. N., 1 Jan 2017, In : Methods. 112, p. 39-45 7 p.Research output: Contribution to journal › Article
21 Citations (Scopus) -
A retrospective audit of bacterial culture results of donated human milk in Perth, Western Australia
Almutawif, Y., Hartmann, B., Lloyd, M., Erber, W. & Geddes, D., 1 Feb 2017, In : Early Human Development. 105, p. 1-6 6 p.Research output: Contribution to journal › Article
14 Citations (Scopus) -
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration
Arno, G., Carss, K. J., Hull, S., Zihni, C., Robson, A. G., Fiorentino, A., Hardcastle, A. J., Holder, G. E., Cheetham, M. E., Plagnol, V., Moore, A. T., Raymond, F. L., Matter, K., Balda, M. S., Webster, A. R., UK Inherited Retinal Dis, NIHR Bioresource - Rare Dis & Erber, W., 2 Feb 2017, In : American Journal of Human Genetics. 100, 2, p. 334-342 9 p.Research output: Contribution to journal › Article
Open Access11 Citations (Scopus) -
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
NIHR-BioResource Rare Diseases Consortium, 5 Jan 2017, In : American Journal of Human Genetics. 100, 1, p. 75-90 16 p.Research output: Contribution to journal › Article
Open Access148 Citations (Scopus) -
DETECTION OF CHROMOSOMAL ABERRATIONS ASSOCIATED WITH PROGNOSIS OF UVEAL MELANOMA USING CIRCULATING TUMOUR CELLS
Isaacs, T., Beasley, A., Allcok, R., Khattak, A., Vermeulen, T., Freeman, J., Chen, F., Bentel, J., Calapre, L., Pereira, M., Yau, K., Mirzai, B., Erber, W., Ziman, M. & Gray, E., Oct 2017, In : Clinical & Experimental Ophthalmology. 45, p. 61-61 1 p.Research output: Contribution to journal › Abstract/Meeting Abstract
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Detection of therapeutic targets in carcinomas of unknown primary
Clynick, B., Dessauvagie, B., Strerrett, G., Harvey, N., Subramaniam, S., Herron, J., Allcock, R., Guo, B., Saunder, C., Erber, W. & Meehan, K., Sep 2017, In : Annals of Oncology. 28, 1 p.Research output: Contribution to journal › Abstract/Meeting Abstract
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Imaging flow cytometry in the assessment of leukocyte-platelet aggregates
Hui, H., Fuller, K. A., Erber, W. N. & Linden, M. D., 1 Jan 2017, In : Methods. 112, p. 46-54 9 p.Research output: Contribution to journal › Article
9 Citations (Scopus) -
Improved classification of leukemic B-cell lymphoproliferative disorders using a transcriptional and genetic classifier
Navarro, A., Clot, G., Martínez-Trillos, A., Pinyol, M., Jares, P., González-Farré, B., Martínez, D., Trim, N., Fernández, V., Villamor, N., Colomer, D., Costa, D., Salaverria, I., Martín-Garcia, D., Erber, W., López, C., Jayne, S., Siebert, R., Dyer, M. J. S., Wiestner, A. & 7 others, , 31 Aug 2017, In : Haematologica. 102, 9, p. 360-363 4 p.Research output: Contribution to journal › Letter
Open Access8 Citations (Scopus) -
Megakaryocytes in myeloproliferative neoplasms have unique somatic mutations
Guo, B. B., Allcock, R. J., Mirzai, B., Malherbe, J. A., Choudry, F. A., Frontini, M., Chuah, H., Liang, J., Kavanagh, S. E., Howman, R., Ouwehand, W. H., Fuller, K. A. & Erber, W., Jul 2017, In : The American Journal of Pathology. 187, 7, p. 1512–1522Research output: Contribution to journal › Article
3 Citations (Scopus) -
2016
A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies
Turro, E., Greene, D., Wijgaerts, A., Thys, C., Lentaigne, C., Bariana, T. K., Westbury, S. K., Kelly, A. M., Selleslag, D., Stephens, J. C., Papadia, S., Simeoni, I., Penkett, C. J., Ashford, S., Attwood, A., Austin, S., Bakchoul, T., Collins, P., Deevi, S. V. V., Favier, R. & 23 others, , 2016, In : Science Translational Medicine. 8, 328, p. 1-15 15 p., 328ra30.Research output: Contribution to journal › Article
51 Citations (Scopus) -
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss
Stritt, S., Nurden, P., Turro, E., Greene, D., Jansen, S. B., Westbury, S. K., Petersen, R., Astle, W. J., Marlin, S., Bariana, T. K., Kostadima, M., Lentaigne, C., Maiwald, S., Papadia, S., Kelly, A. M., Stephens, J. C., Penkett, C. J., Ashford, S., Tuna, S., Austin, S. & 26 others, , 9 Jun 2016, In : Blood. 127, 23, p. 2903-2914 12 p.Research output: Contribution to journal › Article
72 Citations (Scopus) -
An active, collaborative approach to learning skills in flow cytometry
Fuller, K., Linden, M., Lee-Pullen, T., Fragall, C., Erber, W. & Roehrig, K., 1 Jun 2016, In : Advances in Physiology Education. 40, 2, p. 176-185 10 p.Research output: Contribution to journal › Article
8 Citations (Scopus) -
Circumscribed sebaceous neoplasms: a morphological, immunohistochemical and molecular analysis
Harvey, N., Tabone, T., Erber, W. & Wood, B., 2016, In : Pathology. 48, 5, p. 454-462Research output: Contribution to journal › Article
12 Citations (Scopus) -
Development of a Robust Immuno-S-FISH Protocol Using Imaging Flow Cytometry
Fuller, K. A., Bennett, S. C., Hui, H. Y., Chakera, A. & Erber, W. N., 2016, In : Cytometry Part A. 89, 8, p. 720-730 11 p.Research output: Contribution to journal › Article
9 Citations (Scopus) -
Dysregulation of the intrinsic apoptotic pathway mediates megakaryocytic hyperplasia in myeloproliferative neoplasms
Malherbe, J., Fuller, K., Mirzai, B., Kavanagh, S., So, C. C., Ip, H. W., Guo, B., Forsyth, C., Howman, R. & Erber, W., 2016, In : Journal of Clinical Pathology. 69, 11, p. 1017-1024Research output: Contribution to journal › Article
Open Access5 Citations (Scopus) -
HER2 mRNA transcript quantitation in breast cancer
Meehan, K., Clynick, B., Mirzai, B., Maslen, P., Harvey, J. & Erber, W. N., 11 Nov 2016, In : Clinical and Translational Oncology. p. 606-615 10 p.Research output: Contribution to journal › Article
4 Citations (Scopus) -
Intravenous iron or placebo for anaemia in intensive care: the IRONMAN multicentre randomized blinded trial: A randomized trial of IV iron in critical illness
Litton, E., Baker, S., Erber, W. N., Farmer, S., Ferrier, J., French, C., Gummer, J., Hawkins, D., Higgins, A., Hofmann, A., De Keulenaer, B., Mcmorrow, J., Olynyk, J. K., Richards, T., Towler, S., Trengove, R. & Webb, S., Nov 2016, In : Intensive Care Medicine. 42, 11, p. 1715-1722Research output: Contribution to journal › Article
47 Citations (Scopus) -
Megakaryocytic hyperplasia in myeloproliferative neoplasms is driven by disordered proliferative, apoptotic and epigenetic mechanisms
Malherbe, J., Fuller, K., Arshad, A., Nangalia, J., Romeo, G., Hall, S., Meehan, K., Guo, B., Howman, R. & Erber, W., 2016, In : Journal of Clinical Pathology. 69, 2, p. 155-163Research output: Contribution to journal › Article
Open Access14 Citations (Scopus) -
NPNT is expressed by osteoblasts and mediates angiogenesis via the activation of extracellular signal-regulated kinase
Kuek, V., Yang, Z., Chim, S., Zhu, S., Xu, H., Chow, S. T., Tickner, J., Rosen, V., Erber, W., Li, X., An, Q., Qian, Y. & Xu, J., 26 Oct 2016, In : Scientific Reports. 6, p. 1-13 13 p., 36210.Research output: Contribution to journal › Article
Open AccessFile7 Citations (Scopus)389 Downloads (Pure) -
TGF-α and IL-6 plasma levels selectively identify CML patients who fail to achieve an early molecular response or progress in the first year of therapy
Nievergall, E., Reynolds, J., Kok, C. H. H., Watkins, D. B. B., Biondo, M., Busfield, S. J. J., Vairo, G., Fuller, K. A., Erber, W. N., Sadras, T., Grose, R., Yeung, D. T. T., Lopez, A. F. F., Hiwase, D. K. K., Hughes, T. P. P. & White, D. L. L., 2016, In : Leukemia. 30, 6, p. 1263-1272 10 p.Research output: Contribution to journal › Article
23 Citations (Scopus) -
TGFα expression in myeloid malignancies
Kavanagh, S., Mirzai, B., Fuller, K. & Erber, W., 2016, In : Journal of Clinical Pathology. 69, 6, p. 543-546Research output: Contribution to journal › Article
Open Access2 Citations (Scopus) -
2015
BRAF mutation detection in hairy cell leukaemia from archival haematolymphoid specimens
Thomas, C., Amanuel, B., Finlayson, J., Grieu-Iacopetta, F., Spagnolo, D. & Erber, W., 2015, In : Pathology. 47, 4, p. 349-354Research output: Contribution to journal › Article
6 Citations (Scopus) -
Disruption of IKAROS activity in primitive chronic-phase CML cells mimics myeloid disease progression
Beer, P. A., Knapp, D. J. H. F., Miller, P. H., Kannan, N., Sloma, I., Heel, K., Babovic, S., Bulaeva, E., Rabu, G., Terry, J., Druker, B. J., Loriaux, M. M., Loeb, K. R., Radich, J. P., Erber, W. & Eaves, C. J., 2015, In : Blood. 125, 3, p. 504-515Research output: Contribution to journal › Article
Open Access16 Citations (Scopus) -
EGFL7 is expressed in bone microenvironment and promotes angiogenesis via ERK, STAT3, and integrin signaling cascades
Chim, S., Kuek, V., Chow, S. T., Lim, B., Tickner, J., Zhao, J., Chung, R., Su, Y., Zhang, G., Erber, W., Xian, C. J., Rosen, V. M. & Xu, J., Jan 2015, In : Journal of Cellular Physiology. 230, 1, p. 82-94Research output: Contribution to journal › Article
Open AccessFile25 Citations (Scopus)516 Downloads (Pure) -
Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders
Westbury, S. K., Turro, E., Greene, D., Lentaigne, C., Kelly, A. M., Bariana, T. K., Simeoni, I., Pillois, X., Attwood, A., Austin, S., Jansen, S. B. G., Bakchoul, T., Crisp-Hihn, A., Erber, W., Favier, R., Foad, N., Gattens, M., Jolley, J. D., Liesner, R., Meacham, S. & 20 others, , 2015, In : Genome Medicine. 7, 1, p. 1-15Research output: Contribution to journal › Article
Open Access79 Citations (Scopus) -
Measurement of monocyte-platelet aggregates by imaging flow cytometry
Hui, H., Fuller, K., Erber, W. & Linden, M., 2015, In : Cytometry Part A. 87, 3, p. 273-278Research output: Contribution to journal › Article
16 Citations (Scopus) -
Mutational Analysis of BRAF Inhibitor-Associated Squamoproliferative Lesions
Clynick, B., Tabone, T., Fuller, K., Erber, W., Meehan, K., Millward, M., Wood, B. & Harvey, N., 2015, In : JOURNAL OF MOLECULAR DIAGNOSTICS. 17, 6, p. 644-651Research output: Contribution to journal › Article
6 Citations (Scopus) -
Somatic mutations in glioblastoma are associated with methylguanine-DNA methyltransferase methylation
Mcdonald, K. L., Tabone, T., Nowak, A. & Erber, W., 2015, In : Oncology Letters. 9, 5, p. 2063-2067Research output: Contribution to journal › Article
Open Access6 Citations (Scopus) -
2013
Angiogenic factors in bone local environment
Chim, S., Tickner, J., Chow, S. T., Kuek, V., Guo, B., Zhang, G., Rosen, V., Erber, W. & Xu, J., 2013, In : Cytokine and Growth Factor Reviews. 24, 3, p. 297-310Research output: Contribution to journal › Review article
141 Citations (Scopus) -
Developments in the immunophenotypic analysis of haematological malignancies
Heel, K., Tabone, T., Roehrig, K., Maslen, P., Meehan, K., Grimwade, L. F. & Erber, W., 2013, In : Blood Reviews. 27, 4, p. 193-207Research output: Contribution to journal › Article
7 Citations (Scopus)