Publications


A Burns, R Alsolami, J Becq, A Timbs, D Bruce, P Robbe, D Vavoulis, M Cabes, H Dreau, J Taylo, S J L Knight, R Mansson, D Bentley, R Beekman, J I Martín-Subero, E Campo, R S Houlston, K E Ridout and A Schuh. Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHVmut and IgHVunmut subgroups. Leukemia. 2017 Jun 6. doi: 10.1038/leu.2017.177. [Epub ahead of print]

Hamblin A, Wordsworth S, Fermont JM, Page S, Kaur K, Camps C, Kaisaki P, Gupta A, Talbot D, Middleton M, Henderson S, Cutts A, Vavoulis DV, Housby N, Tomlinson I, Taylor JC, Schuh A. Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service. PLoS Med. 2017 Feb 14;14(2):e1002230.

Stamatopoulos B, Timbs A, Bruce D, Smith T, Clifford R, Robbe P, Burns A, Vavoulis DV, Lopez L, Antoniou P, Mason J, Dreau H, Schuh A. Targeted deep sequencing reveals clinically relevant subclonal. Leukemia. 2017 Apr;31(4):837-845

Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM. Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations. Hemoglobin. 2016;40(2):75-84

Roy NB, Wilson EA, Henderson S, Wray K, Babbs C, Okoli S, Atoyebi W, Mixon A, Cahill MR, Carey P, Cullis J, Curtin J, Dreau H, Ferguson DJ, Gibson B, Hall G, Mason J, Morgan M, Proven M, Qureshi A, Sanchez Garcia J, Sirachainan N, Teo J, Tedgård U, Higgs D, Roberts D, Roberts I, Schuh A. A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias. Br J Haematol. 2016 Oct;175(2):318-330. doi: 10.1111/bjh.14221.

Kaisaki PJ, Cutts A, Popitsch N, Camps C, Pentony MM, Wilson G, Page S, Kaur K, Vavoulis D, Henderson S, Gupta A, Middleton MR, Karydis I, Talbot DC, Schuh A, Taylor JC. Targeted Next-Generation Sequencing of Plasma DNA from Cancer Patients: Factors Influencing Consistency with Tumour DNA and Prospective Investigation of Its Utility for Diagnosis. PLoS One. 2016 Sep 14;11(9):e0162809

Guièze R, Robbe P, Clifford R, de Guibert S, Pereira B, Timbs A, Dilhuydy MS, Cabes M, Ysebaert L, Burns A, Nguyen-Khac F, Davi F, Véronèse L, Combes P, Le Garff-Tavernier M, Leblond V, Merle-Béral H, Alsolami R, Hamblin A, Mason J, Pettitt A, Hillmen P, Taylor J, Knight SJ, Tournilhac O, Schuh A. Presence of multiple recurrent mutations confers poor trial outcome of relapsed/refractory CLL. Blood. 2015 Oct 29;126(18):2110-7. doi: 10.1182/blood-2015-05-647578.

Clifford R, Louis T, Robbe P, Ackroyd S, Burns A, Timbs AT, Wright Colopy G, Dreau H, Sigaux F, Judde JG, Rotger M, Telenti A, Lin YL, Pasero P, Maelfait J, Titsias M, Cohen DR, Henderson SJ, Ross MT, Bentley D, Hillmen P, Pettitt A, Rehwinkel J, Knight SJ, Taylor JC, Crow YJ, Benkirane M, Schuh A. SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage. Blood. 2014 Feb 13;123(7):1021-31. doi: 10.1182/blood-2013-04-490847.

Lutz C, Woll PS, Hall G, Castor A, Dreau H, Cazzaniga G, Zuna J, Jensen C, Clark SA, Biondi A, Mitchell C, Ferry H, Schuh A, Buckle V, Jacobsen SE, Enver T. Quiescent leukaemic cells account for minimal residual disease in childhood lymphoblastic leukaemia. Leukemia. 2012 Oct 22. doi: 10.1038/leu.2012.306.

Misbah SA, Kokkinou V, Jeffery K, Oosterhuis W, Shine B, Schuh A, Theodoridis T. The role of the physician in laboratory medicine: a European perspective. J Clin Pathol 2013 May;66(5):432-7

Bench AJ, White HE, Foroni L, Godfrey AL, Gerrard G, Akiki S, Awan A, Carter I, Goday-Fernandez A, Langabeer SE, Clench T, Clark J, Evans PA, Grimwade D, Schuh A, McMullin MF, Green AR, Harrison CN, Cross NC. Molecular diagnosis of the myeloproliferative neoplasms: UK guidelines for the detection of JAK2 V617F and other relevant mutations. Br J Haematol. 2012 Oct 11. doi: 10.1111/bjh.12075. [Epub ahead of print] PubMed PMID: 23057517.

Oscier D, Dearden C, Erem E, Fegan C, Follows G, Hillmen P, Illidge T, Matutes E, Milligan DW, Pettitt A, Schuh A, Wimperis J; Writing group: On behalf of the British Committee for Standards in Haematology. Guidelines on the diagnosis, investigation and management of chronic lymphocytic leukaemia. Br J Haematol. 2012 Oct 11. doi: 10.1111/bjh.12067. [Epub ahead of print] PubMed PMID: 23057493.

Schuh A, Becq J, Humphray S, Alexa A, Burns A, Clifford R, Feller SM, Grocock R, Henderson S, Khrebtukova I, Kingsbury Z, Luo S, McBride D, Murray L, Menju T, Timbs A, Ross M, Taylor J, Bentley D. Monitoring chronic lymphocytic leukemia progression by whole genome sequencing reveals heterogeneous clonal evolution patterns. Blood. 2012 Aug 22. [Epub ahead of print] PubMed PMID: 22915640.

Mead AJ, Rugless MJ, Jacobsen SE, Schuh A. Germline JAK2 mutation in a family with hereditary thrombocytosis. N Engl J Med. 2012 Mar 8;366(10):967-9. PubMed PMID: 22397670.

Pettitt AR, Jackson R, Carruthers S, Dodd J, Dodd S, Oates M, Johnson GG, Schuh A, Matutes E, Dearden CE, Catovsky D, Radford JA, Bloor A, Follows GA, Devereux S, Kruger A, Blundell J, Agrawal S, Allsup D, Proctor S, Heartin E, Oscier D, Hamblin TJ, Rawstron A, Hillmen P. Alemtuzumab in combination with methylprednisolone is a highly effective induction regimen for patients with chronic lymphocytic leukemia and deletion of TP53: final results of the national cancer research institute CLL206 trial. J Clin Oncol. 2012 May 10;30(14):1647-55. Epub 2012 Apr 9. PubMed PMID: 22493413.

Clifford R, Schuh A. State-of-the-Art Management of Patients Suffering from Chronic Lymphocytic Leukemia. Clin Med Insights Oncol. 2012;6:165-78. Epub 2012 Mar 19. PubMed PMID: 22474408; PubMed Central PMCID: PMC3315290.

Knight S YC, Clifford R, Timbs A, Sadighi E, Dreau H, Burns A, Ciria C, Oscier D, Pettitt A, Dutton S, Holmes C, Taylor J, Cazier JB, Schuh A. Quantification of subclonal distributions of recurrent genomic aberrations in paired pre-treatment and relapse samples from patients with B-cell chronic lymphocytic leukemia. Leukemia. 2012; Jan 19. doi: 10.1038/leu.2012.13 Schuh A: Anti-CD20: tales of identical twins? Blood 118:5066-7, 2011

Gallienne AE, Dreau HM, Schuh A, Old J, Henderson S. Ten novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults. Haematologica. 2011 Nov 18. [Epub ahead of print]

Coyle P, Frayling I, Novelli M, Schuh A, Tomlinson I (Chair). The future provision of molecular diagnostic services for acquired disease in the UK Royal College of Pathologists publ 13.10.2010

Roy NB, Myerson S, Schuh AH, Bignell P, Patel R, Wainscoat JS, McGowan S, Marchi E, Atoyebi W, Littlewood T, Chacko J, Vyas P, Killick SB. Cardiac iron overload in transfusion-dependent patients with myelodysplastic syndromes. Br J Haematol. 2011 Aug;154(4):521-4. doi: 10.1111/j.1365-2141.2011.08749.x. Epub 2011 Jun 21. PubMed PMID: 21689086.

Chowdhury O, Varghese A, Pattinson J, Carrington P, Bloor A, Follows GA, Hillmen P, Schuh A. Ofatumumab in advanced stage chronic lymphocytic leukaemia: results of the UK named patient compassionate use programme. Br J Haematol. 2011 May 12. doi: 10.1111/j.1365 2141.2011.08711.x. [Epub ahead of print] PubMed PMID: 21564074.

Foroni L, Wilson G, Gerrard G, Mason J, Grimwade D, White HE, de Castro DG, Austin S, Awan A, Burt E, Clench T, Farruggia J, Hancock J, Irvine AE, Kizilors A, Langabeer S, Milner BJ, Nickless G, Schuh A, Sproul A, Wang L, Wickham C, Cross NC. Guidelines for the measurement of BCR-ABL1 transcripts in chronic myeloid leukaemia. Br J Haematol. 2011 Mar 8. doi: 10.1111/j.1365-2141.2011.08603.x. [Epub ahead of print] PubMed PMID: 21382019.

Goardon N, Marchi E, Atzberger A, Quek L, Schuh A, Soneji S, Woll P, Mead A, Alford KA, Rout R, Chaudhury S, Gilkes A, Knapper S, Beldjord K, Begum S, Rose S, Geddes N, Griffiths M, Standen G, Sternberg A, Cavenagh J, Hunter H, Bowen D, Killick S, Robinson L, Price A, Macintyre E, Virgo P, Burnett A, Craddock C, Enver T, Jacobsen SE, Porcher C, Vyas P. Coexistence of LMPP-like and GMP-like leukemia stem cells in acute myeloid leukemia. Cancer Cell. 2011 Jan 18;19(1):138-52. PubMed PMID: 21251617.

Haywood A, Dreau H, Timbs A, Schuh A, Old J, Henderson S. Screening for clinically significant non-deletional alpha thalassaemia mutations by pyrosequencing. Ann Hematol. 2010 Dec;89(12):1215-21. Epub 2010 Jun 22. PubMed PMID: 20567827.

Gallienne AE, Iberson NM, Dreau HM, Jackson H, Bignell PA, Old JM, Schuh A, Henderson SJ. Characterization of a novel deletion causing beta-thalassemia major in an Afghan family. Hemoglobin. 2010;34(1):110-4. PubMed PMID: 20113295.

Mattsson G, Turner SH, Cordell J, Ferguson DJ, Schuh A, Grimwade LF, Bench AJ, Weinberg OK, Marafioti T, George TI, Arber DA, Erber WN, Mason DY. Can cytoplasmic nucleophosmin be detected by immunocytochemical staining of cell smears in acute myeloid leukemia? Haematologica. 2010 Apr;95(4):670-3. Epub 2009 Dec 16. PubMed PMID: 20015883; PubMed Central PMCID: PMC2857199.

Gallienne AE, Dreau HM, McCarthy J, Timbs AT, Hampson JM, Schuh A, Old JM, Henderson SJ. Multiplex ligation-dependent probe amplification identification of 17 different beta-globin gene deletions (including four novel mutations) in the UK population. Hemoglobin. 2009;33(6):406-16. PubMed PMID: 19958185.

Khalil MS, Molyneux AT, Marouf S, Eldamanhory GA, Schuh AH, Henderson SJ, Old JM. The accurate prediction of rare hemoglobin variants using a combination of high performance liquid chromatography, retention time and isoelectric focusing electrophoresis position. Saudi Med J. 2009 Sep;30(9):1158-64. PubMed PMID:19750260.

Henderson S, Timbs A, McCarthy J, Gallienne A, Van Mourik M, Masters G, May A, Khalil MS, Schuh A, Old J. Incidence of haemoglobinopathies in various populations - the impact of immigration. Clin Biochem. 2009 Dec;42(18):1745-56. Epub 2009 Jun 1. PubMed PMID: 19497317.

Schuh AH, Tipping AJ, Clark AJ, Hamlett I, Guyot B, Iborra FJ, Rodriguez P, Strouboulis J, Enver T, Vyas P, Porcher C. ETO-2 associates with SCL in erythroid cells and megakaryocytes and provides repressor functions in erythropoiesis. Mol Cell Biol. 2005 Dec;25(23):10235-50. PubMed PMID: 16287841; PubMed Central PMCID: PMC1291220.

Davis SL, Vaidya A, Timbs A, Schuh A, Staves J, Murphy MF. Severe haemolysis due to passenger lymphocyte syndrome after an ABO mismatched bowel transplant - a case report. Transfus Med. 2010 Nov 10 Charles H. Lawrie, Erica Ballabio, Oliver-James Dyar, Margaret Jones, Roland Ventura, Jianxiang Chi, Daniela Tramonti, Sarah Gooding, Jacqueline Boultwood, James S. Wainscoat, Christian S.R. Hatton, Anna Schuh: MicroRNA expression in chronic lymphocytic leukaemia. Br J Haematol 2009 Aug 13. Schlaeger T.M, Schuh A, Flitter S, Fisher A, Mikkola H, Orkin S.H, Vyas P and Porcher C. Decoding haematopoietic specificity in the helix-loop-helix domain of the transcription factor SCL/Tal-1. Mol. Cell. Biol. 2004; 7491-502.

N Goardon*,Schuh A*, I Hajar, X Ma, H Jouault, E Dzierzak, P-H Romeo and L Maouche-Chretien: Ectopic expression of TAL-1 protein in Ly-6E.1-htal-1 transgenic mice induces defects in B and T lymphoid differentiation. Blood. 2002;100:491-500 *both authors contributed equally

Schuh A, Atoyebi W, Littlewood T, Hatton C, Bradburn M, Murphy MF: Prevention of worsening of severe thrombocytopenia after red cell transfusion by the use of leucocyte depleted blood. BJH 2000 Feb; 108 (2): 455-7

Schuh A, Dandridge J, Haydon P, Littlewood TJ. Encephalopathy complicating high dose melphalan. Bone Marrow Transplant 1999, Nov;24(10):1141-3.

M Schwonzen, M Pfreundschuh, C Pohl, AH Schuh, B Lathan, V Diehl: Binding of monoclonal anti-interleukin 2 antibody to nucleoli in acute leukaemic blast cells. 1992, Leukaemia Research Vol 16, No 617, pp 589-595.

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Last updated 23 Feb 2017.