WMRGL Publications list April 2009- March 2010
Publications in journals
An Q, Wright SL, Konn ZJ, Matheson E, Minto L, Moorman AV, Parker H, Griffiths M, Ross FM, Davies T, Hall AG, Harrison CJ, Irving JA, Strefford JC. ‘Variable breakpoints target PAX5 in patients with dicentric chromosomes: a model for the basis of unbalanced translocations in cancer.’ Proc Natl Acad Sci U S A. 2008 Nov 4;105(44):17050-4. Epub 2008 Oct 28. http://www.pnas.org/content/105/44/17050.abstract
An Q, Wright SL, Moorman AV, Parker H, Griffiths M, Ross FM, Davies T, Harrison CJ, Strefford JC. ‘Heterogeneous breakpoints in patients with acute lymphoblastic leukemia and the dic(9;20)(p11-13;q11) show recurrent involvement of genes at 20q11.21.’ Haematologica. 2009 Aug;94(8):1164-9. Epub 2009 Jul 7.
http://www.haematologica.org/cgi/content/abstract/94/8/1164
Armstrong R, Greenhalgh KL, Rattenberry E, Judd B, Shukla R, Losty PD, Maher ER. ‘Succinate dehydrogenase subunit B (SDHB) gene deletion associated with a composite paraganglioma/neuroblastoma.’ J Med Genet. 2009 Mar;46(3):215-6.
http://jmg.bmj.com/content/46/3/215.extract
Bruce CK, Smith M, Rahman F, Liu ZF, McMullan DJ, Ball S, Hartley J, Kroos MA, Heptinstall L, Reuser AJ, Rolfs A, Hendriksz C, Kelly DA, Barrett TG, Macdonald F, Maher ER, Gissen P. ‘Design and validation of a metabolic disorder resequencing microarray (BRUM1).’ Hum Mutat. (2010) 31(7):858-65.
Crompton D, Rehal PK, Macpherson L, Foster K, Lunt P, Hughes I, Brady AF, Pike MG, De Gressi S, Morgan NV, Hardy C, Smith M, Macdonald F, Maher ER, Kurian MA. 'Multiplex Ligation-dependent Probe Amplification (MLPA) Analysis is an Effective Tool for the Detection of Novel Intragenic PLA2G6 Mutations: Implications for Molecular Diagnosis' Molecular Genetics and Metabolism. Feb 2010 e-pub ahead of print http://www.sciencedirect.com/science?_ob=ArticleURL&_udi=B6WNG-4YDC3SG-2&_user=10&_coverDate=02%2F16%2F2010&_alid=1323818165&_rdoc=1&_fmt=high&_orig=search&_cdi=6962&_sort=r&_docanchor=&view=c&_ct=1&_acct=C000050221&_version=1&_urlVersion=0&_userid=10&md5=c0225e727f0cac1697518de385a642af
Dunwell TL, Hesson LB, Pavlova T, Zabarovska V, Kashuba V, Catchpoole D, Chiaramonte R, Brini AT, Griffiths M, Maher ER, Zabarovsky E, Latif F. ‘Epigenetic analysis of childhood acute lymphoblastic leukemia.’ Epigenetics. 2009 Apr;4(3):185-93. Epub 2009 Apr 12. http://www.landesbioscience.com/journals/epigenetics/article/8752
Foster N, Paulsson K, Sales M, Cunningham J, Groves M, O'Connor N, Begum S, Stubbs T, McMullan DJ, Griffiths M, Pratt N, Tauro S. ‘Molecular characterisation of a recurrent, semi-cryptic RUNX1 translocation t(7;21) in myelodysplastic syndrome and acute myeloid leukaemia.’ Br J Haematol. 2010 Mar;148(6):938-43. Epub 2010 Jan 11.
http://www3.interscience.wiley.com/journal/123237076/abstract
Ghosh A, Higgins L, Larkins SA, Miller C, Ostojic N, Martin WL, Kilby MD. ‘Prenatal diagnosis and prenatal imaging of a de novo 46,X,der(Y)t(X;Y)(p22.13;q11.23) leading to functional disomy for the distal end of the X chromosome short arm from Xp22.13 in a phenotypically male fetus with posterior fossa abnormalities.’ Prenat Diagn. 2008 Nov;28(11):1068-71. http://www3.interscience.wiley.com/journal/121459038/abstract
Henderson A, Douglas F, Perros P, Morgan C, Maher ER. ‘SDHB-associated renal oncocytoma suggests a broadening of the renal phenotype in hereditary paragangliomatosis.’ Fam Cancer. (2009) 8(3):257-60
http://springerlink.com/content/n626381731099430/?p=b9f65c410b1546a79e8498bf5f232686&pi=11
Hesson LB, Dunwell TL, Cooper WN, Catchpoole D, Brini AT, Chiaramonte R, Griffiths M, Chalmers AD, Maher ER, Latif F. ‘The novel RASSF6 and RASSF10 candidate tumour suppressor genes are frequently epigenetically inactivated in childhood leukaemias.’ Mol Cancer. 2009 Jul 1;8:42. http://www.molecular-cancer.com/content/8/1/42
Khanim FL, Bradbury CA, Arrazi J, Hayden RE, Rye A, Basu S, MacWhannell A, Sawers A, Griffiths M, Cook M, Freeman S, Nightingale KP, Grimwade D, Falciani F, Turner BM, Bunce CM, Craddock C. ‘Elevated FOSB-expression; a potential marker of valproate sensitivity in AML.’ Br J Haematol. (2009); 144(3): 332-41.
Li F, Shen Y, Köhler U, Sharkey FH, Menon D, Coulleaux L, Malan V, Rio M, McMullan DJ, Cox H, Fagan KA, Gaunt L, Metcalfe K, Heinrich U, Hislop G, Maye U, Sutcliffe M, Wu BL, Thiel BD, Mulchandani S, Conlin LK, Spinner NB, Murphy KM, Batista DA. ‘Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?’ Eur J Med Genet. 2010 Mar-Apr;53(2):93-9. Epub 2010 Feb 2.
http://www.sciencedirect.com/science?_ob=ArticleURL&_udi=B7RKV-4Y9CFHT-2&_user=10&_coverDate=04%2F30%2F2010&_rdoc=9&_fmt=high&_orig=browse&_srch=doc-info(%23toc%2325732%232010%23999469997%231885724%23FLA%23display%23Volume)&_cdi=25732&_sort=d&_docanchor=&_ct=14&_acct=C000050221&_version=1&_urlVersion=0&_userid=10&md5=3144c7172033263a10d00b4e04175cb1
Lim D, Bowdin SC, Tee L, Kirby GA, Blair E, Fryer A, Lam W, Oley C, Cole T, Brueton LA, Reik W, Macdonald F, Maher ER. ‘Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies.’ Hum Reprod. 2009 Mar;24(3):741-7. Epub 2008 Dec 10
http://humrep.oxfordjournals.org/cgi/content/abstract/24/3/741
Lim DH, Rehal PK, Nahorski MS, Macdonald F, Claessens T, Van Geel M, Gijezen L, Gille JJ, Giraud S, Richard S, van Steensel M, Menko FH, Maher ER. ‘A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.’ Hum Mutat. 2010 Jan;31(1):E1043 -51. http://www3.interscience.wiley.com/journal/122615430/abstract
McMullan DJ, Bonin M, Hehir-Kwa JY, de Vries BB, Dufke A, Rattenberry E, Steehouwer M, Moruz L, Pfundt R, de Leeuw N, Riess A, Altug-Teber O, Enders H, Singer S, Grasshoff U, Walter M, Walker JM, Lamb CV, Davison EV, Brueton L, Riess O, Veltman JA. ‘Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study.’ Hum Mutat. 2009 Jul;30(7):1082-92.
http://www3.interscience.wiley.com/journal/122265990/abstract
McNeill A, Rattenberry E, Barber R, Killick P, MacDonald F, Maher ER. ‘Genotype-phenotype correlations in VHL exon deletions.’ Am J Med Genet A. 2009 Oct;149A(10):2147-51. http://www3.interscience.wiley.com/journal/122600022/abstract
Parker H, An Q, Barber K, Case M, Davies T, Konn Z, Stewart A, Wright S, Griffiths M, Ross FM, Moorman AV, Hall AG, Irving JA, Harrison CJ, Strefford JC. ‘The complex genomic profile of ETV6-RUNX1 positive acute lymphoblastic leukemia highlights a recurrent deletion of TBL1XR1.’ Genes Chromosomes Cancer. 2008); 47(12): 1118-25.
Patel C, Hardy G, Cox P, Bowdin S, McKeown C, Russell AB. ‘Mosaic trisomy 1q: The longest surviving case.’ Am J Med Genet A. 2009 Aug;149A(8):1795-800.
http://www3.interscience.wiley.com/journal/122514603/abstract
Paulsson K, An Q, Moorman AV, Parker H, Molloy G, Davies T, Griffiths M, Ross FM, Irving J, Harrison CJ, Young BD, Strefford JC. ‘Methylation of tumour suppressor gene promoters in the presence and absence of transcriptional silencing in high hyperdiploid acute lymphoblastic leukaemia.’ Br J Haematol. 2009 Mar;144(6):838-47. Epub 2008 Dec 19.
http://www3.interscience.wiley.com/journal/121581351/abstract
Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B; Oral-Facial-Digital Type I (OFDI) Collaborative Group. ‘Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.’ Hum Mutat. 2008 Oct;29(10):1237-46. http://www3.interscience.wiley.com/journal/119818437/abstract
Ricketts CJ, Forman JR, Rattenberry E, Bradshaw N, Lalloo F, Izatt L, Cole TR, Armstrong R, Kumar VK, Morrison PJ, Atkinson AB, Douglas F, Ball SG, Cook J, Srirangalingam U, Killick P, Kirby G, Aylwin S, Woodward ER, Evans DG, Hodgson SV, Murday V, Chew SL, Connell JM, Blundell TL, Macdonald F, Maher ER. ‘Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.’ Hum Mutat. 2010 Jan;31(1):41-51. http://www3.interscience.wiley.com/journal/122615434/abstract
Russell LJ, De Castro DG, Griffiths M, Telford N, Bernard O, Panzer-Grümayer R, Heidenreich O, Moorman AV, Harrison CJ. ‘A novel translocation, t(14;19)(q32;p13), involving IGH@ and the cytokine receptor for erythropoietin.’ Leukemia. 2009 Mar;23(3):614-7. Epub 2008 Sep 25. http://www.nature.com/leu/journal/v23/n3/abs/leu2008250a.html
Russell LJ, Capasso M, Vater I, Akasaka T, Bernard OA, Calasanz MJ, Chandrasekaran T, Chapiro E, Gesk S, Griffiths M, Guttery DS, Haferlach C, Harder L, Heidenreich O, Irving J, Kearney L, Nguyen-Khac F, Machado L, Minto L, Majid A, Moorman AV, Morrison H, Rand V, Strefford JC, Schwab C, Tönnies H, Dyer MJ, Siebert R, Harrison CJ. ‘Deregulated expression of cytokine receptor gene, CRLF2, is involved in lymphoid transformation in B-cell precursor acute lymphoblastic leukemia.’ Blood. 2009 Sep 24;114(13):2688-98. Epub 2009 Jul 29. http://bloodjournal.hematologylibrary.org/cgi/content/abstract/114/13/2688
Sanders DS, Yousef A, Carr RA, Murphy P, Taniere P, Glendinning K, Macdonald F, McKeown C; ‘MSI-H 'medullary type' adenocarcinoma complicating ileal Crohn's disease; further molecular insight into Crohn's-related carcinogenesis’ Histopathology. (2008) 52(4):519-23.
Schoemaker MJ, Swerdlow AJ, Higgins CD, Wright AF, Jacobs PA; United Kingdom Clinical Cytogenetics Group. ‘Mortality in women with turner syndrome in Great Britain: a national cohort study.’J Clin Endocrinol Metab. 2008 Dec;93(12):4735-42. Epub 2008 Sep 23. http://jcem.endojournals.org/cgi/content/abstract/93/12/4735
Shuib S, McMullan D, Rattenberry E, Barber RM, Rahman F, Zatyka M, Chapman C, Macdonald F, Latif F, Davison V, Maher ER. ‘Microarray based analysis of 3p25-p26 deletions (3p- syndrome).’ Am J Med Genet A. 2009 Oct;149A(10):2099-105. http://www3.interscience.wiley.com/journal/122598177/abstract
Srirangalingam U, Khoo B, Walker L, MacDonald F, Skelly RH, George E, Spooner D, Johnston LB, Monson JP, Grossman AB, Drake WM, Akker SA, Pollard PJ, Plowman N, Avril N, Berney DM, Burrin JM, Reznek RH, Kumar VK, Maher ER, Chew SL. ‘Contrasting clinical manifestations of SDHB and VHL associated chromaffin tumours.’ Endocr Relat Cancer. (2009)16(2):515-25
http://erc.endocrinology-journals.org/cgi/content/abstract/16/2/515
Srirangalingam U, Walker L, Khoo B, MacDonald F, Gardner D, Wilkin TJ, Skelly RH, George E, Spooner D, Monson JP, Grossman AB, Akker SA, Pollard PJ, Plowman N, Avril N, Berney DM, Burrin JM, Reznek RH, Kumar VK, Maher ER, Chew SL. ‘Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B (SDH-B) gene mutation carriers.’ Clin Endocrinol (Oxf). (2008); 69(4): 587-96.
Taibjee SM, Hall D, Balderson D, Larkins S, Stubbs T, Moss C. ‘Keratinocyte cytogenetics in 10 patients with pigmentary mosaicism: identification of one case of trisomy 20 mosaicism confined to keratinocytes.’ Clin Exp Dermatol. 2009 Oct;34(7):823-9. Epub 2009 May 5. http://www3.interscience.wiley.com/journal/122373864/abstract
Van der Aa N, Rooms L, Vandeweyer G, van den Ende J, Reyniers E, Fichera M, Romano C, Delle Chiaie B, Mortier G, Menten B, Destrée A, Maystadt I, Männik K, Kurg A, Reimand T, McMullan D, Oley C, Brueton L, Bongers EM, van Bon BW, Pfund R, Jacquemont S, Ferrarini A, Martinet D, Schrander-Stumpel C, Stegmann AP, Frints SG, de Vries BB, Ceulemans B, Kooy RF. ‘Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.’ Eur J Med Genet. (2009); 52(2-3): 94-100.
Oral presentations
Aldridge F., ‘Effects of haemopoietic growth factors on cytogenetic cultures of MDS, AML and B-lineage acute lymphoblastic leukaemia’ ACC Spring Conference (2009)
Bohanna D., ‘Immunostimulatory oligonucleotide-induced metaphase cytogenetics for improved detection of chromosomal abnormalities in CLL’ ACC Spring Conference (2008)
Campbell C., ‘Improving diagnosis of Beckwith-Wiedemann syndrome using methylation sensitive MLPA and Pyrosequencing’ CMGS Spring Conference (2008)
Clavering D., ‘The introduction of ABL kinase domain mutation testing in CML patients showing resistance to Imatinib’ CMGS Spring Conference (2008)
Croft L., Assessment of the efficacy of Metasystems focus modes for the capture of bone marrow metaphase cells.’ ACC Spring Conference (2009)
Crosby C., ‘Implementation of a new diagnostic service for congenital adrenal hyperplasia’ CMGS Spring Conference (2008)
Harris J., ‘Detection of copy number changes and loss of heterozygosity in CLL patients using Affymetrix 250K SNP arrays.’ ACC Spring Conference (2009)
McMullan DJ, ‘New microdeletion syndromes’ ACC Spring Conference (2008)
McMullan DJ, ‘Screening X-linked mental retardation patients using exon resolution arrays (ACC Research Fund award)’ ACC Spring Conference (2008)
Perrott E., ‘Apparent homozygous deletion identified in Alstrom syndrome patient’ CMGS Spring Conference (2008)
Sach E., ‘Implementation of a new cDNA screening strategy as an adjunct to the West Midlands Regional Genetics Breast Cancer Service’ CMGS Spring Conference (2008)
Silcock, L. McMullan D, Brueton L, Lim D, Davison V, ‘XMLR patients screened using exon resolution X chromosome array CGH’ BSHG Conference (2009)
Silcock L., ‘XLMR patients screened using exon resolution X chromosome array CGH.’ ACC Spring Conference (2009)
Slowther K., ‘Microsatellite instability in sporadic colorectal cancer: a retrospective study’ CMGS Spring Conference (2008)
Posters
A.S., Hendriksz C.J., Kelly D.A., Gissen P., Menko F.H., The use of BRUM1 resequencing microarray to identify mutations in patients with cholestatic disorders(BSHG conference 2010)
Bowles C, Mason J, Akiki S, Griffiths, ‘Identification and RQ-PCR monitoring of CML patients with rare variant BCR-ABL transcipts’ BSHG Conference (2009)
Bruce C.K., Hartley J., McKay K., Brown R., Baumann U., Clayton P., Sturm E, Udd B, McKiernan P., Shah I., Mirza R., Cheema H., McCullen D., MacDonald F., Maher E.R., Knisely
Colman LK., Reali LJ, McKay, K, Larkins SA, Allen S, Davison EV, ‘Discordant results in 4 cases of monosomy X mosaicism detected at CVS by QF-PCR FISH and chromosomal analysis’ ACC Spring Conference (2009)
Coleman R., Akiki S., Griffiths M., Macdonald F. Implementation of nucleophosmin (NPM1) screening in acute myeloid leukaemia (AML) patients (BSHG conference 2010)
Cooper N, Cole T, Rattenberry E, Rehal P, Stewart PM, Stewart S, Benn J,SDHB: further evidence of the pathogenicity of the Ser163Pro variant associated with phaeochromocytoma and a Cowden-like phenotype’ BSHG Conference (2009)
Crompton D, Rehal P, Kurian M, MacDonald F, ‘Extended analysis of possible PLA2G6 deletions in 2 patients with infantile Neuroaxonal Dystrophy’ BSHG Conference (2009)
Crosby C, Perrott E, Clavering D, Ormshaw E, Borrow J, Mason J, Akiki S, Griffiths M,‘An update on the BCR/ABL kinase domain mutation analysis service in CML patients at the West Midlands Regional Genetics Laboratory’ BSHG Conference (2009)
Fews G., O’Neill F., Larkins S.A., Davison E.V. An audit of the cytogenetic findings and referral patterns for 7089 patients referred with infertility or reduced fertility in the West Midlands Region of the UK between 2000 and 2010 (BSHG conference 2010)
Fulton P., Nicholl D.J., Lewthwaite A.J.,MacDonald F., J Bell J., Wallis Y., Smith M., McKay K.
Analysis of the Glucocerebrosidase (GBA) and GTP Cyclohydrolase 1 (GCH1) genes in a UK cohort of familial Parkinson’s disease patients (BSHG conference 2010)
Hall G, Cooper-Charles L., Silcock L, James N, Morton J, Aligianis I, McMullan D, Davison V ‘Identification of cryptic genomic imbalances in both de novo and familial blanced chromosome rearrangements using aCGH’ BSHG Conference (2009)
Halford G., Rose S., Page P., Griffiths M. A CML patient with a cryptic insertion of BCR into both chromosomes 9 (BSHG conference 2010)
Hunt J., Macdonald F., Bell J., Gissen P. Implementation of a Diagnostic Service for Niemann-Pick Type C Testing (BSHG conference 2010)
Jones L, McMullan D, Ely A, Jeffries S, James N, Silcock L, Griffiths M ‘ Development of a BAC-FISH test to detect FGFR1 rearrangements in patients with 8p11 Myeloproliferative Syndrome’ BSHG Conference (2009)
Kurian M, Rehal, Morgan NV, Gissen P, MacDonald F, Maher E ‘ Phenotypic Spectrum of PLA2G6-related disorders: infantile, Childhood and Adult onset Presentation of Phospholiapase associated Neurodegeneration (PLAN)’ BSHG Conference (2009)
Larkins S, Higgins L, Ghosh A, Miller C, Ostojic N, Martin WL, Kilby MD, Luharia A., ‘Prenatal diagnosis and imaging of a 46,X,der(Y)t(X;Y)(p22.13;q11.23)dn leading to functional disomy for distal Xp in a phenotypic male fetus with posteria fossa anomalies’ BSHG Conference (2008)
Larkins S, McMullen DJ, Slater ML, Walker JM, Davison EV., ‘A case of an inherited subtle add(13(q34) detected prenatally which was resolved using microarrays’ BSHG Conference (2008)
Lim D, Rehal PK, Kirby GA, MacDonald F, Maher ER., ‘The clinical, therapeutic and molecular genetic investigation of Birt-Hogg-Dube syndrome’ BSHG Conference (2009)
McCutcheon F, Dom J McMullan, Lisa Cooper-Charles, Lisa Reali, Simon Larkins, Chirag Patel, EV Davison ‘Validation of BlueGnome’s Constitutional Focus CytoChip for application to Prenatal Diagnosis’ European Cytogenetics Association Seventh European Cytogenetics Conference (2009)
MacDonald F., ‘An audit of the outcomes of send-away samples’ CMGS Spring Conference (2008)
McKay K., Hartley J., Bruce C., Gissen P., Macdonald F. New molecular services for the diagnosis of neonatal cholestasis (BSHG conference 2010)
McNeill A, Rattenberry E, Barber R, MacDonald F, Killick P, Maher ER,. ‘Genotype - Phenotype correlations in VHL exon deletions’ BSHG Conference (2009)
Meadows J, Reali LJ, Cooper Charles L, McMullan D, Davison EV, ‘Characterisation of a prenatally ascertained unbalanced rearrangement of chromosome 2 using array CGH’ ACC Spring Conference (2009)
Motton N, Forsyth J, Williams D, Rehal PK., ‘Use of RNA studies to confirm pathogenicity of novel NSD1 intronic variant in Sotos syndrome case BSHG Conference (2008)
Rattenberry E, Woodward R, Bradshaw N, Izatt L, Wren A, Aylwin S, Bell J, Rehal P, Maher E, MacDonald F, ‘MLPA analysis to detect large deletions and duplications of SDHB, SDHC and SDHD: interesting findings since establishment of a diagnostic service’ BSHG Conference (2009)
Danielle Crompton'Multiplex Ligation-dependent Probe Amplification (MLPA) Analysis is an Effective Tool for the Detection of Novel Intragenic PLA2G6 Mutations: Implications for Molecular Diagnosis' Molecular Genetics and Metabolism. Accepted March 2010
Nahorski M., Lim D.H.K., Martin L., Gille J.P., McKay K., Rehal P.K., Ploeger H.M., van Steensel M., Tomlinson I.P., Latif F. Investigation of the Birt-Hogg-Dubé tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer (BSHG conference 2010)
Page P., Rindl M., Doak R., Griffiths M., Kelly D., Velangi M., Unintentional ‘stem cell transplant’ following a liver transplant in a patient with monosomy 7 AML (BSHG conference 2010)
Perrott E, Rehal P, Ricketts C, Barber R, Bell JA, MacDonald F., ‘Homozygous deletion identified in Alstrom syndrome patient’ BSHG Conference (2008)
Slowther K, Bell JA, MacDonald F, Taniere P., ‘Incorporation of V600E BRAF mutation analysis into the West Midlands Regional Genetics HNPCC service’ BSHG Conference (2008)
Sims K., Jeffries S., Strachan M., Almond C., Moorman A., Griffiths M. An 18 year old male with ALL and two extra intrachromosomal copies of RUNX1 at relapse: triplication or iAMP21? (BSHG conference 2010)
Smith M., Slowther K., Crosby C., Perrott E., Rehal P., Hardy C., Macdonald F. Diagnostic Testing for CHARGE Syndrome - Three years since service implementation (BSHG conference 2010)
Terrenoire E., Rose S., Huxley E., Akiki S., Evans R, Walker J., Mason J., Tabrah S., Jeffries S., Page P., Griffiths M., A case of CML with granulocytic sarcoma (BSHG conference 2010)
Walker JM, Russell LJ, Strachan M, Geddes N, Jeffries S Griffiths MJ, ‘A recurrent cryptic t(X;14)(p22;q32) IGH@ rearrangement in B lineage precursor ALL; a series of 4 patients’ ACC Spring Conference (2009)
Wall K., Mason J., Akiki S., Griffiths M. A Diagnostic Service for Familial Platelet Disorder with Propensity to Develop Acute Myeloid Leukaemia (FPD/AML) (BSHG conference 2010)
Watts RE, Glover KJ, Fews GA, Farndon P, Moore J, Davison EV, ‘Case report of an inverted X chromosome implicated in the disruption of the DMD gene’ ACC Spring Conference (2009)
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