Find Research Outputs

Search in all content

Filters for Research Output

Search concepts
Selected filters

Publication Year

  • 2020
  • 2019
  • 2018
  • 2016

Author

  • Wendy Erber
Article

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, Kostadima, M., Lambert, M. P., Mathias, M., Millar, C. M., Peerlinck, K., Perry, D. J., Schulman, S., Whitehorn, D., Wittevrongel, C., De Maeyer, M., Rendon, A., Gomez, K., Erber, W. N., Mumford, A. D., Nurden, P., Stirrups, K., Bradley, J. R., Raymond, F. L., Laffan, M. A., Van Geet, C., Richardson, S., Freson, K. & Ouwehand, H., 2016, In : Science Translational Medicine. 8, 328, p. 1-15 15 p., 328ra30.

Research output: Contribution to journalArticle

48 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, Bakchoul, T., Collins, P., Favier, R., Lambert, M. P., Mathias, M., Millar, C. M., Mapeta, R., Perry, D. J., Schulman, S., Simeoni, I., Thys, C., Gomez, K., Erber, W. N., Stirrups, K., Rendon, A., Bradley, J. R., van Geet, C., Raymond, F. L., Laffan, M. A., Nurden, A. T., Nieswandt, B., Richardson, S., Freson, K., Ouwehand, W. H., Mumford, A. D. & BRIDGE-BPD Consortium, 9 Jun 2016, In : Blood. 127, 23, p. 2903-2914 12 p.

Research output: Contribution to journalArticle

70 Citations (Scopus)
7 Citations (Scopus)
1 Citation (Scopus)

Circumscribed sebaceous neoplasms: a morphological, immunohistochemical and molecular analysis

Harvey, N., Tabone, T., Erber, W. & Wood, B., 2016, In : Pathology. 48, 5, p. 454-462

Research output: Contribution to journalArticle

10 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 journalArticle

Open Access
12 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 journalArticle

Open Access
3 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 journalArticle

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. 1017-1024

Research output: Contribution to journalArticle

Open Access
5 Citations (Scopus)
Open Access
9 Citations (Scopus)

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, Sims, M. C., Stefanucci, L., Stephens, J. C., Read, R. J., Stirrups, K. E., Ouwehand, W. H., Laffan, M. A., BioResource, N., Frontini, M., Freson, K. & Turro, E., 5 Dec 2019, In : Blood. 134, 23, p. 2070-2081 12 p.

Research output: Contribution to journalArticle

5 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 journalArticle

Open Access
36 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 journalArticle

Open Access
4 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 journalArticle

4 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 journalArticle

5 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. 1715-1722

Research output: Contribution to journalArticle

44 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. 155-163

Research output: Contribution to journalArticle

Open Access
12 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 journalArticle

Open Access
File
7 Citations (Scopus)
374 Downloads (Pure)

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 journalArticle

9 Citations (Scopus)

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, Marshall, A., Mumford, A., Rice, A., Webster, A., Brady, A., Koziell, A., Manson, A., Chandra, A., Hensiek, A., Veld, A. H. I. T., Maw, A., Kelly, A. M., Moore, A., Vonk Noordegraaf, A., Attwood, A., Herwadkar, A., Ghofrani, A., Houweling, A. C., Girerd, B., Furie, B., Treacy, C. M., Millar, C. M., Sewell, C., Roughley, C., Titterton, C., Williamson, C., Hadinnapola, C., Deshpande, C., Toh, C. H., Bacchelli, C., Patch, C., Geet, C. V., Babbs, C., Bryson, C., Penkett, C. J., Rhodes, C. J., Watt, C., Bethune, C., Booth, C., Lentaigne, C., McJannet, C., Church, C., French, C., Samarghitean, C., Halmagyi, C., Gale, D., Greene, D., Hart, D., Allsup, D., Bennett, D., Edgar, D., Kiely, D. G., Gosal, D., Perry, D. J., Keeling, D., Montani, D., Shipley, D., Whitehorn, D., Fletcher, D., Krishnakumar, D., Grozeva, D., Kumararatne, D., Thompson, D., Josifova, D., Maher, E., Wong, E. K. S., Murphy, E., Dewhurst, E., Louka, E., Rosser, E., Chalmers, E., Colby, E., Drewe, E., McDermott, E., Thomas, E., Staples, E., Clement, E., Matthews, E., Wakeling, E., Oksenhendler, E., Turro, E., Reid, E., Wassmer, E., Raymond, F. L., Hu, F., Kennedy, F., Soubrier, F., Flinter, F., Kovacs, G., Polwarth, G., Ambegaonkar, G., Arno, G., Hudson, G., Woods, G., Coghlan, G., Hayman, G., Arumugakani, G., Schotte, G., Cook, H. T., Alachkar, H., Lango Allen, H., Lango-Allen, H., Stark, H., Stauss, H., Schulze, H., Boggard, H. J., Baxendale, H., Dolling, H., Firth, H., Gall, H., Watson, H., Longhurst, H., Markus, H. S., Watkins, H., Simeoni, I., Emmerson, I., Roberts, I., Quinti, I., Wanjiku, I., Gibbs, J. S. R., Thaventhiran, J., Whitworth, J., Hurst, J., Collins, J., Suntharalingam, J., Payne, J., Thachil, J., Martin, J. M., Carmichael, J., Maimaris, J., Paterson, J., Pepke-Zaba, J., Heemskerk, J. W. M., Gebhart, J., Davis, J., Pasi, J., Bradley, J. R., Wharton, J., Stephens, J., Rankin, J., Anderson, J., Vogt, J., Von Ziegenweldt, J., Rehnstrom, K., Megy, K., Talks, K., Peerlinck, K., Yates, K., Freson, K., Stirrups, K., Gomez, K., Smith, K. G. C., Rue-Albrecht, K., Gilmour, K., Masati, L., Scelsi, L., Southgate, L., Ranganathan, L., Ginsberg, L., Devlin, L., Willcocks, L., Ormondroyd, L., Lorenzo, L., Harper, L., Allen, L., Daugherty, L., Chitre, M., Kurian, M., Humbert, M., Tischkowitz, M., Bitner-Glindzicz, M., Erwood, M., Scully, M., Veltman, M., Caulfield, M., Layton, M., McCarthy, M., Ponsford, M., Toshner, M., Bleda, M., Wilkins, M., Mathias, M., Reilly, M., Afzal, M., Brown, M., Rondina, M., Stubbs, M., Haimel, M., Lees, M., Laffan, M. A., Browning, M., Gattens, M., Richards, M., Michaelides, M., Lambert, M. P., Makris, M., De Vries, M., Mahdi-Rogers, M., Saleem, M., Thomas, M., Holder, M., Eyries, M., Clements-Brod, N., Canham, N., Dormand, N., Zuydam, N. V., Kingston, N., Ghali, N., Cooper, N., Morrell, N. W., Yeatman, N., Roy, N., Shamardina, O., Alavijeh, O. S., Gresele, P., Nurden, P., Chinnery, P., Deegan, P., Yong, P., Man, P. Y. W., Corris, P. A., Calleja, P., Gissen, P., Bolton-Maggs, P., Rayner-Matthews, P., Ghataorhe, P. K., Gordins, P., Stein, P., Collins, P., Dixon, P., Kelleher, P., Ancliff, P., Yu, P., Tait, R. C., Linger, R., Doffinger, R., Machado, R., Kazmi, R., Sargur, R., Favier, R., Tan, R., Liesner, R., Antrobus, R., Sandford, R., Scott, R., Trembath, R., Horvath, R., Hadden, R., Mackenzieross, R. V., Henderson, R., MacLaren, R., James, R., Ghurye, R., Dacosta, R., Hague, R., Mapeta, R., Armstrong, R., Noorani, S., Murng, S., Santra, S., Tuna, S., Johnson, S., Chong, S., Lear, S., Walker, S., Goddard, S., Mangles, S., Westbury, S., Mehta, S., Hackett, S., Nejentsev, S., Moledina, S., Bibi, S., Meehan, S., Othman, S., Revel-Vilk, S., Holden, S., McGowan, S., Staines, S., Savic, S., Burns, S., Grigoriadou, S., Papadia, S., Ashford, S., Schulman, S., Ali, S., Park, S. M., Davies, S., Stock, S., Ali, S., Deevi, S. V. V., Gräf, S., Ghio, S., Wort, S. J., Jolles, S., Austin, S., Welch, S., Meacham, S., Rankin, S., Walker, S., Seneviratne, S., Holder, S., Sivapalaratnam, S., Richardson, S., Kuijpers, T. W., Kuijpers, T. W., Bariana, T. K., Bakchoul, T., Everington, T., Renton, T., Young, T., Aitman, T., Warner, T. Q., Vale, T., Hammerton, T., Pollock, V., Matser, V., Cookson, V., Clowes, V., Qasim, W., Wei, W., Erber, W. N., Ouwehand, W. H., Astle, W., Egner, W., Turek, W., Henskens, Y., Tan, Y. & Lynch, A. G., 1 Dec 2018, In : Scientific Reports. 8, 1, 1300.

Research output: Contribution to journalArticle

Open Access
9 Citations (Scopus)

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 journalArticle

22 Citations (Scopus)

TGFα expression in myeloid malignancies

Kavanagh, S., Mirzai, B., Fuller, K. & Erber, W., 2016, In : Journal of Clinical Pathology. 69, 6, p. 543-546

Research output: Contribution to journalArticle

Open Access
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 journalArticle

7 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 journalArticle

8 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 journalArticle

2 Citations (Scopus)
Chapter

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 Press

Research output: Chapter in Book/Conference paperChapter

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. 528-542

Research output: Chapter in Book/Conference paperChapter

Letter

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-e264

Research output: Contribution to journalLetter

Open Access
6 Citations (Scopus)
Review article