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WMRGL Publications list

Peer reviewed journal publications (2011- 2013)

Decker J, Neuhaus C, Macdonald F, Brauch H, Maher ER. (2013) Clinical utility gene card for von Hippel-Lindau (VHL). Eur J Hum Genet. 2013 Aug 28. doi: 10.1038/ejhg.2013.180.

Hillman SC, McMullan DJ, Silcock L, Maher ER, Kilby MD. How does altering the resolution of chromosomal microarray analysis in the prenatal setting affect the rates of pathological and uncertain findings? J Matern Fetal Neonatal Med. 2013 Aug 19. [Epub ahead of print] PubMed PMID: 23869996

Hillman SC, McMullan DJ, Maher ER, Kilby MD. Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data: does increased diagnostic power outweigh the dilemma of rare variants. BJOG. 2013 Sep;120(10):1296.

Tee L, Lim DH, Dias RP, Baudement MO, Slater AA, Kirby G, Hancocks T, Stewart H, Hardy C, Macdonald F, Maher ER. (2013) Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive. Clin Epigenetics. 2013 Dec 10;5(1):23.

Dias RP, Nightingale P, Hardy C, Kirby G, Tee L, Price S, Macdonald F, Barrett TG, Maher ER. Comparison of the clinical scoring systems in Silver-Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing. J Med Genet. 2013 Sep 50, 635-9.

Krone N, Rose IT, Willis DS, Hodson J, Wild SH, Doherty EJ, Hahner S, Parajes S, Stimson RH, Han TS, Carroll PV, Conway GS, Walker BR, MacDonald F, Ross RJ, Arlt W; United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE). (2013) Genotype-phenotype correlations in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxlase deficiency: analysis of the United Kingdom Congenital adrenal hyperplasia Adult Study Executive (CaHASE) cohort. J Clin Endocrinol Metab. 98, E346-54.

Handley MT, Morris-Rosendahl DJ, Brown S, Macdonald F, Hardy C, Bem D, Carpanini SM, Borck G, Martorell L, Izzi C, Faravelli F, Accorsi P, Pinelli L, Basel-Vanagaite L, Peretz G, Abdel-Salam GM, Zaki MS, Jansen A, Mowat D, Glass I, Stewart H, Mancini G, Lederer D, Roscioli T, Giuliano F, Plomp AS, Rolfs A, Graham JM, Seemanova E, Poo P, García-Cazorla A, Edery P, Jackson IJ, Maher ER, Aligianis IA. (2013) Mutation spectrum in RAB3GAP1, RAB3GAP2 and RAB18 and genotype-phenotype correlations in Warburg micro syndrome and Martsof syndrome. Hum Mutat. 2013 May;34(5):686-96.

Volpe G, Walton DS, Del Pozzo W, Garcia P, Dasse E, O’Neill LP, Griffiths M, Frampton J, Dumon S. C/EBPα and MYB Regulate FLT3 expression in AML. Leukemia 2013 Jul;27(7):1487-96.

Hillman SC, McMullan DJ, Hall G, Togneri FS, James N, Maher EJ, Meller CH, Williams D, Wapner RJ, Maher ER, Kilby MD. Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2013 Jun;41(6):610-620.

Speight RA, Nicolle A, Needham SJ, Verrill MW, Bryon J, Panter S: Rare Germline Mutation of KIT With Imatinib-Resistant Multiple GI Stromal Tumors and Mastocytosis. J Clin Oncol 2013 Jun 1;31(16):e245-7.

Tonks AM, Gornall AS, Larkins SA, Gardosi JO: Trisomies 18 and 13: trends in prevalence and prenatal diagnosis - population based study. Prenat Diagn. 2013 Apr 2:1-9.

Nikolousis E, Robinson S, Nagra S, Brookes C, Kinsella F, Tauro S, Jeffries S, Griffiths M, Mahendra P, Cook M, Paneesha S, Lovell R, Kishore B, Chaganti S, Malladi R, Raghavan M, Moss P, Milligan D, Craddock C: Post-transplant T cell chimerism predicts graft versus host disease but not disease relapse in patients undergoing an alemtuzumab based reduced intensity conditioned allogeneic transplant. Leuk Res. 2013 May; 37(5):561-5.

Akiki S, Dyer SA, Grimwade D, Ivey A, Abou-Zeid N, Borrow J, Jeffries S, Caddick J, Newell H, Begum S, Tawana K, Mason J, Velangi M,Griffiths M, NUP98-NSD1 fusion in association with FLT3-itd mutation identifies a prognostically relevant subgroup of paediatric acute myeloid leukaemia patients suitable for monitoring by real time quantitative PCR. Genes Chromosomes and Cancer, 52:1053–1064 (2013).

Rattenberry E, Vialard L, Yeung A, Bair H, McKay K, Jafri M, Canham N, Cole TR, Denes J, Hodgson SV, Irving R, Izatt L, Korbonits M, Kumar AV, Lalloo F, Morrison PJ, Woodward ER, Macdonald F, Wallis Y, Maher ER. A comprehensive next generation sequencing based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma. J Clin Endocrinol Metab. July 2013, 98(7):E1248–E1256.

Jafri M, Whitworth J, Rattenberry E, Vialard L, Kilby G, Kumar AV, Izatt L, Lalloo F, Brennan P, Cook J, Morrison PJ, Canham N, Armstrong R, Brewer C, Tomkins S, Donaldson A, Barwell J, Cole TR, Atkinson AB, Aylwin S, Ball SG, Srirangalingam U, Chew SL, Evans DG, Hodgson SV, Irving R, Woodward E, Macdonald F, Maher ER. Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma.. Clin Endocrinol (Oxf). 2013 Jun;78(6):898-906.

Cilliers D, Park S-M, Sarson K, Kenwrick S, Simpson H, Bradley L, Lalloo F, McConachie M, Maher ER. A Family with Co-existing SDHB and SDHD Mutations Causing Hereditary Paraganglioma Syndrome. American Journal of Cancer Case Reports. Mar 2013, 1:27-33.

J V Jovanovic, A Ivey, A M Vannucchi, E Lippert, E O Leibundgut, B Cassinat, N Pallisgaard, N Maroc, S Hermouet, G Nickless, P Guglielmelli, B A van der Reijden, J H Jansen, T Alpermann, S Schnittger, A Bench, K Tobal, B Wilkins, K Cuthill, D McLornan, K Yeoman, S Akiki, J Bryon, S Jeffries, A Jones, M J Percy, S Schwemmers, A Gruender, T W Kelley, S Reading, A Pancrazzi, M F McMullin, H L Pahl, N C P Cross, C N Harrison, J T Prchal, C Chomienne, J J Kiladjian, T Barbui, D Grimwade,Establishing optimal quantitative-Polymerase chain reaction assays for routine diagnosis and tracking of minimal residual disease in JAK2-V617F associated myeloproliferative neoplasms: a joint european Leukemianet/ MPN&MPNr-EuroNet (COST Action BM0902) study, Leukemia (2013) 27, 2032–2039.

RK Dhillon, SC Hillman, RK Morris, D McMullan, D Williams, A Coomarasamy, MD Kilby, Additional information from chromosomal microarray analysis (CMA) over conventional karyotyping when diagnosing chromosomal abnormalities in miscarriage: a systematic review and meta-analysis, BJOG (2013) 1-1.

M Kucka, I Bjelobaba, SJH Clokie, DC Klien, SS Stojikovic. Female-specific induction of rat pituitary dentin matrix protein-1 by GnRH. MolEndrocrinol 27: 1840-1855.

C Craddock, L Quek, N Goardon, S Freeman, S Siddique, M Raghavan, A Aztberger, ASchuh, D Grimwade, A Ivey, P Virgo, R Hills, T McSkeane, J Arrazi, S Knapper, C Brookes, B Davies, A Price, K Wall, M Griffiths, J Cavenagh, R Majeti, I Weissman, A Burnett and P Vyas: Azacitidine fails to eradicate leukemic stem/progenitor cell populations in patients with acute myeloid leukemia and myelodysplasia. Leukemia 2013 Apr;27(5):1028-36.

A.Bench, H. White, L. Foroni, A.Godfrey, G.Gerrard, S.Akiki, A. Awan, A.Goday-Fernandez, S. Langabeer, T. Clench, P. Evans, D.Grimwade, M. McMullin, A. Green. Molecular diagnosis of the myeloproliferative neoplasms: guidelines for the detection of the JAK2 V617F mutation and other relevant mutations. BJHaem, 2013 Jan;160(1):25-34

Smith H, Galmes R, Gogolina E, Straatman-Iwanowska A, Reay K, Banushi B, Bruce CK, Cullinane AR, Romero R, Chang R, Ackermann O, Baumann C, Cangul H, Cakmak Celik F, Aygun C, Coward R, Dionisi-Vici C, Sibbles B, Inward C, Kim CA, Klumperman J, Knisely AS, Watson SP, Gissen P: Associations among genotype, clinical phenotype and intracellular localization of trafficking proteins in ARC syndrome. Hum Mutat. 2012 Dec;33(12): 1656-64.

CD Gocke, J Mason, L Brusca, W Laosinchai-Wolf, C Higgs, H Newell, A Masters, L Friar, J Karp, M Griffiths, Q Wei3and E Labourier. Risk-based classification of leukemia by cytogenetic and multiplex molecular methods: results from a multicenter validation study Blood Cancer Journal (2012) 2, e78

Farrell MP, Hughes DJ, Berry IR, Gallagher DJ, Glogowski EA, Payne SJ, Kennedy MJ, Clarke RM, White SA, Muldoon CB, Macdonald F, Rehal P, Crompton D, Roring S, Duke ST, McDevitt T, Barton DE, Hodgson SV, Green AJ, Daly PA.Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome. Fam Cancer. 2012 Sep;11(3):509-18.

S. Hebbali, S. Akiki, , D. Bareford. Resolution of post-polycythaemic myelofibrosis with a combination of thalidomide and interferon.Clin Path 2012 Aug;65(8):762-3.

Krone N, Reisch N, Idkowiak J, Dhir V, Ivison HE, Hughes BA, Rose IT, O'Neil DM, Vijzelaar R, Smith MJ, MacDonald F, Cole TR, Adolphs N, Barton JS, Blair EM, Braddock SR, Collins F, Cragun DL, Dattani MT, Day R, Dougan S, Feist M, Gottschalk ME, Gregory JW, Haim M, Harrison R, Olney AH, Hauffa BP, Hindmarsh PC, Hopkin RJ, Jira PE, Kempers M, Kerstens MN, Khalifa MM, Köhler B, Maiter D, Nielsen S, O'Riordan SM, Roth CL, Shane KP, Silink M, Stikkelbroeck NM, Sweeney E, Szarras-Czapnik M, Waterson JR, Williamson L, Hartmann MF, Taylor NF, Wudy SA, Malunowicz EM, Shackleton CH, Arlt W. (2012) Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase activity. J Clin Endocrin Metab, 97, E257-67

Hill M, Lewis C, Jenkins L, Allen S, Elles RG, Chitty LS. Implementing non-invasive prenatal fetal sex determination using cell-free fetal DNA in the United Kingdom. Expert Opin. Biol. Ther. (2012) 12(Suppl.1). S119-26.

Chakupurakal G, Bell A, Griffiths M, Wandroo F, Moss P. Estimation of ZAP70 expression is demonstrated in adult acute lymphoblastic leukaemia by real time quantitative PCR Analysis. Molecular Cytogenetics 2012;5:22.

Goodyear OC, Dennis M, Jilani NY, Loke J, Siddique S, Ryan G, Nunnick J, Khanum R, Raghavan M, Cook M, Snowden JA, Griffiths M, Russell N, Yin J, Crawley C, Cook G, Vyas P, Moss P, Malladi R, Craddock CF. Azacitidine Augments Expansion of Regulatory T Cells After Allogeneic Stem Cell Transplantation in Patients with Acute Myeloid Leukemia. Blood 2012;119(14):3361-9.

Hamilton S, Waters JJ. Correspondence Re: Incidence of discrepant results between QF-PCR and karyotype testing in chorion villus samples: UK experience. Prenat Diagn 2012; 32(5) 503.

Vogt J, Morgan NV, Rehal P, Faivre L, Brueton LA, Becker K, Fryns JP, Holder S, Islam L, Kivuva E, Lynch SA, Touraine R, Wilson LC, Macdonald F, Maher ER. CHRNG genotype-phenotype correlations in the multiple pterygium syndromes. J Med Genet 2012; 49 91) 21-26

Patel C, Silcock L, McMullan D, Brueton L, Cox H. TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype. Eur J Hum Genet 2012 Aug;20(8):863-9.

Hillman SC, McMullan DJ, Williams D, Maher ER, Kilby MD. Microarray comparative genomic hybridization in prenatal diagnosis: a review.Ultrasound Obstet Gynecol. 2012 Oct;40(4):385-91.

Dixit A, Patel C, Harrison R, Jarvis J, Hulton S, Smith N, Yates K, Silcock L, McMullan DJ, Suri M.17q12 microdeletion syndrome: three patients illustrating the phenotypic spectrum. Am J Med Genet A. 2012 Sep;158A(9):2317-21.

Hillman SC, McMullan DJ, Maher ER, Kilby MD.Clinical utility of array comparative genomic hybridisation for prenatal diagnosis: a cohort study of 3171 pregnancies. BJOG. 2012 Sep;119(10):1281-2

Vetro A, Bouman K, Hastings R, McMullan DJ, Vermeesch JR, Miller K,Sikkema-Raddatz B, Ledbetter DH, Zuffardi O, van Ravenswaaij-Arts CM. The introduction of arrays in prenatal diagnosis: a special challenge.Hum Mutat. 2012 Jun;33(6):923-9.

Mason J, Griffiths M. Molecular diagnosis of leukemia. Expert Rev Mol Diagn. 2012 Jun;12(5):511-26

Hammond P, Hannes F, Suttie M, Devriendt K, Vermeesch JR, Faravelli F, Forzano F, Parekh S, Williams S, McMullan D, South ST, Carey JC, Quarrell O. Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome. Eur J Hum Genet. 2012 Jan;20(1):33-40

Hamilton S, Waters JJ. Correspondence Re: Incidence of discrepant results between QF-PCR and karyotype testing in chorion villus samples: UK experience. Prenat Diagn 2012; 32(5) 503.

Hamilton SJ, Waters JJ. Completely discrepant results between prenatal QF-PCR rapid aneuploidy testing and cultured cell karyotyping obtained from CVS: lessons from UK audit and re-audit of 22,221 cases. Prenat Diagn 2012; 32(9) 5 909–911.

Vogt J, Morgan NV, Rehal P, Faivre L, Brueton LA, Becker K, Fryns JP, Holder S, Islam L, Kivuva E, Lynch SA, Touraine R, Wilson LC, MacDonald F, Maher ER.CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.J Med Genet. 2012 Jan;49(1):21-6.

Rowan C, Hansell DM, Renzoni E, Maher TM, Wells AU, Polkey MI, Rehal PK, Ibrahim WH, Kwong GN, Colby TV, Pistolesi M, Bigazzi F, Comin CE, Nicholson AG. Diffuse cystic lung disease of unexplained cause with coexistent small airway disease: a possible causal relationship?Am J Surg Pathol. 2012 Feb;36(2):228-34.

Astuti D, Morris MR, Cooper WN, Staals RH, Wake NC, Fews GA, Gill H, Gentle D, Shuib S, Ricketts CJ, Cole T, van Essen AJ, van Lingen RA, Neri G, Opitz JM, Rump P, Stolte-Dijkstra I, Müller F, Pruijn GJ, Latif F, Maher ER. Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility. Nat Genet. 2012 Feb 5; 44(3):277-84.

Hill M, Lewis C, Jenkins L, Allen S, Elles RG, Chitty LS. Implementing non-invasive prenatal fetal sex determination using cell-free fetal DNA in the United Kingdom. Expert Opin. Biol. Ther. (2012) 12(Suppl.1). S119-26.

Saporta MA, Katona I, Zhang X, Roper HP, McClelland L, Macdonald F, Brueton L, Blake J, Suter U, Reilly MM, Shy ME, Li J. Neuropathy in a Human Without the PMP22 Gene. Arch Neurology (2011); 68 (6) 814-821.

Miller S, Rogers HA, Lyon P, Rand V, Adamowicz-Brice M, Clifford SC, Hayden JT, Dyer S, Pfister S, Korshunov A, Brundler MA, Lowe J, Coyle B, Grundy RG.Genome-wide molecular characterization of central nervous system primitive neuroectodermal tumor and pineoblastoma. Neuro Oncol. 2011 Aug;13(8):866-79.

McClelland LS, Allen SK, Larkins SA, Hamilton SJ, Marton T, Cox PM, Hargitai B, Johnston EH, Morgan C, Hardy G. Implementation and experience of an alternative QF-PCR and MLPA diagnostic strategy to detect chromosomal abnormalities in fetal and neonatal pathology samples. Pediatr Dev Pathol. 2011 Nov-Dec;14(6):460-8.

Mason J, Akiki S, Griffiths M. Pitfalls in molecular diagnostics in haemato-oncology. Invited editorial review for J Clin Path. 2011;64(4):275-8.

Hill VK, Thomas Dunwell T, Catchpoole D, Krex D, Brini AT, Griffiths M, Craddock C, Maher ER, Latif F. Frequent epigenetic inactivation of KIBRA an upstream member of the Salvador/Warts/Hippo (SWH) tumor suppressor network is associated with specific genetic event in B-cell acute lymphocytic leukemia. Epigenetics 2011 Mar 1;6(3);326-32.

Parker H, Rose-Zenilli MJJ, Parker A, Chaplin T, Gardiner A, Griffiths M, Young BD, Oscier DG, Strefford JC. 13q deletion anatomy and disease progression in patients with chronic lymphocytic leukaemia. Leukemia 2011 Mar;25(3):489-97.

Groves MJ, Sales M, Baker L, Griffiths M, Pratt N, Tauro S. Factors influencing a second myeloid malignancy in patients with Philadelphia negative -7 or del(7q) clones during tyrosine kinase inhibitor therapy of chronic myeloid leukemia. Cancer Genetics and Cytogenetics 2011 Jan;204(1):39-44.

Shuib S, Wei W, Sur H, Morris MR, McMullan D, Rattenberry E, Meyer E, Maxwell PH, Kishida T, Yao M, Latif F, Maher ER Copy number profiling in von hippel-lindau disease renal cell carcinoma. Genes Chromosomes Cancer. (2011) Jul;50(7):479-88.

Patel C, Cooper-Charles L, McMullan DJ, Walker J, Davison EV, Morton J. Translocation breakpoint at 7q31 associated with tics: further evidence for IMMP2L as a candidate gene for Tourette syndrome. Eur.J.Hum.Genet. (2011); 19:634-639.

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 MJ, 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 SEW, Porcher C, Vyas P . Coexistence of LMPP-like and GMP-like Leukemia Stem Cells in Acute Myeloid Leukemia. Cancer Cell (2011) 19 (138-152).

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 Apr;153(2):179-90.

Mason J, Griffiths M. Detection of minimal residual disease in leukaemia by RT-PCR. Methods Mol Biol. 2011;688:269-80.

Yvonne Wallis "Automated DNA Sequencing" in PCR Mutation Detection Protocols, second edition, Humana Press 2011. Eds B Theophilus and R Rapley; pp173-186.

Recent Poster Presentations (From April 13)

Kimberley Reay, Jennie Bell, Cyril Chapman and Yvonne Wallis. Next generation sequencing services for inherited colorectal cancer. CGG Meeting Leeds May 13.

Lindsey Vialard, Eleanor Rattenberry, Jennie Bell, Eamonn Maher, Yvonne Wallis. Genetic screening service for genes associated with familial phaeochromocytoma and paraganglioma. CGG Meeting Leeds May 13.

Lindsey Vialard, Eleanor Rattenberry, Jennie Bell, Eamonn Maher, Yvonne Wallis: Implementation of a comprehensive genetic screening strategy for multiple genes associated with familial renal cell carcinoma .CGG Meeting Leeds May 13 .

Rehal P1, Bell J1, Butler S1, Macdonald F1, O’Sullivan B1, Smith M1, Taniere P1, Griffiths M1, Butler R2, Roberts H2, Gonzalez de Castro D3, Lillis S3, Walker I4, Johnson P.W.M.4 cancer research uk stratified medicine programme - update from phase one. CGG Meeting Leeds May 13.

Anita Luharia, Jennie Bell, Cyril Chapman, Richard Barber, Yvonne Wallis: The use of RNA studies to investigate pathogenicity of variants of uncertain clinical significance: a 10 year review from the WMRGL. CGG Meeting Leeds May 13.

Richard Barber, Jennie Bell, Cyril Chapman, Yvonne Wallis: The challenge of interpretation and reporting unclassified sequence variants of unknown clinical significance in the diagnostic laboratory, present and future strategies. CGG Meeting Leeds May 13.

Ann M Tonks, Adam S Gornall, Simon A Larkins, Susan Hamilton, Jason O Gardosi.
Advances in trisomy 21 screening in the West Midlands, 1995-2011. British Maternal and Fetal Medicine Society Meeting, Dublin April 13.

Alison Foster, Fiona S Togneri, Trevor Cole, Georgina Hall, Dominic McMullan. A wide spectrum of intellectual disability in two siblings with a 6p22.3-p23 microdeletion encompassing JARID2. ESHG, Paris, June 2013.

K McKay, Z Gray, C Lloyd, J Hartley, F MacDonald, CJ Hendriksz, P Gissen, D Kelly: Identifying the incidence of rare genetic disorders in infants with liver disease using targeted next generation sequencing. British Association for the Study of the Liver(BASL) Annual Conference, Sept 2013.

K McKay, Z Gray, C Lloyd, J Hartley, F MacDonald, CJ Hendriksz, P Gissen, D Kelly: Identifying the incidence of rare genetic disorders in infants with liver disease using targeted next generation sequencingESHG, Paris, June 2013.

Kirsten McKay, Anna Yeung, Piers Fulton, Johanna Hunt, Denise Williams and Fiona Macdonald: Enhanced Genetic Services Project: Expanding genetic testing for autosomal recessive disorders associated with childhood morbidity and mortality in Birmingham. British Society for Genetic Medicine (BSGM) Liverpool, Sept 2013.

Mark Watson, Sudhir Tauro, Mark Sales, Robert Hislop, Joan Cunningham, Norman Pratt, Nadja Kaklaj Vokac, Mike Griffiths & Susanna Akiki: Cytogenetic and clinical refinement of the rare but recurrent unbalanced der(1;16) translocation in MDS.British Society for Genetic Medicine (BSGM,) Liverpool, Sept 2013.

Lisa Reali, Carol Hardy, Julie Vogt, Nicole Motton, Sylvia Keigwin1 and Dominic McMullan: Chromosomal microarray detection of a de novo der(X)t(X;11)(p22.12;p15.4) in a neonate with macrosomia and dysmorphism. British Society for Genetic Medicine (BSGM), Liverpool, Sept 2013.

G. Hall, F. Mackie, S. Hamilton, A. Evans, D. J. McMullan, D. Williams, S. Allen, M. D. Kilby: Chromosomal microarray analysis allows the detection of low level prenatal mosaic autosomal aneuploidy which may not have been detected by conventional chromosome analysis. British Society for Genetic Medicine (BSGM), Liverpool, Sept 2013.

Fiona S. Togneri, Saba Sharif, Chirag Patel, David Bohanna, Lisa Reali and Dominic J. McMullan: Split Hand Foot Malformation 3: Presentation of 2 unrelated patients with familial 10q24 microduplications. British Society for Genetic Medicine (BSGM), Liverpool, Sept 2013.

Malgorzata Drozniewska, Jenny Morton, Nicola James, Fiona S Togneri, Lisa Reali and Dominic J McMullan: Cleft palate and developmental delay in two patients with SATB2 deletion. British Society for Genetic Medicine (BSGM) 16-18th Sept 2013 Liverpool.

Lowri Hughes, Trevor Cole, Nils Krone, Graham Fews, Stephanie Allen, Fiona MacDonald: Development of a Next Generation Sequencing Assay for Disorders of Sex Development. British Society for Genetic Medicine (BSGM) 16-18th Sept 2013 Liverpool.

Lowri Hughes, Trevor Cole, Nils Krone, Graham Fews, Stephanie Allen, Fiona MacDonald: Development of a Next Generation Sequencing Assay for Disorders of Sex Development. 41st Meeting of the British Society for Paediatric Endocrinology and Diabetes (BSPED), 13-15 November 2013, Brighton UK.

Nicola James, L.J. Reali, B. Horsthemke, R. Price, C. Hardy, D.J. McMullan, D.H.K. Lim: Chromosomal microarray detection of a novel maternally inherited deletion of ~30kb encompassing exon 1 of UBE3A in a child with microcephaly and significant speech and language delay: a case report. British Society for Genetic Medicine (BSGM) 16-18th Sept 2013 Liverpool.

Huxley EM, Campbell C, Bryon J, Akiki SA, Griffiths MJ: Clinical implementation of Droplet Digital PCR in the diagnosis and management of Myeloproliferative Neoplasms (MPNs). British Society for Genetic Medicine (BSGM) 16-18th Sept 2013 Liverpool.

Kerry Wall, Richard Evans, Joanne Mason, Adam Ivey, David Grimwade, Susanna Akiki, Mike Griffiths: NPM1 mutated AML masquerading as APL: Resolving a diagnostic conundrum. British Society for Genetic Medicine (BSGM) 16-18th Sept 2013 Liverpool.

Mark Tein, Simon Bodek, David Bohanna, Meryl Lam, Henrietta Lefroy, Evangeline Toleman, Melissa Connolly, Georgina Hall, Dominic McMullan: Juvenile Paget disease secondary to a homozygous 8q24.12 deletion encompassing the TNFRSF11B gene. British Society for Genetic Medicine (BSGM) 16-18th Sept 2013 Liverpool.

Smith Matt. The CRUK–SMP: Working Towards Delivering Stratified Medicine for Solid Tumours using Next Generation Sequencing of FFPE extracted DNA. WIN symposium Paris, July 2013.

Smith Matt. Cancer Research UK stratified medicine programme : Delivering Routine Molecular Testing of Solid Tumours in the UK - EACR Summer Conference: Cancer Genomics, Cambridge June 2013.

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