Newcastle University

Introduction

knighted for services to medicine and healthcare 2010

Present Posts

Professor of Clinical Genetics, Newcastle University

Honorary Consultant Clinical Geneticist, Newcastle Hospitals NHS Foundation Trust

Lead Clinician NHS North East until March 2013

Chair Genetics Speciality Group, NIHR

Director of the Collaborative Group on Genetics in Healthcare (NIHR and Dept of Health)

Member UK Human Genomics Strategy Group

Chair British Society for Human Genetics (renamed British Society for Genetic Medicine)  2011-13

Medical Director QuantuMDx Ltd 

member of the NHS Genomics Strategy Board 2013-

I now have two major areas of research:  The CAPP programme has now succeeded in establishing that aspirin significantly reduces the risk of cancer in people with Lynch syndrome, the major form of hereditary colorectal cancer.  We are now poised to transform the clinical management of cancer in all people with a family history.  Our next major trial will be called CAPP3 and will be a dose inferiority study to determine the optimal dose.  We are also exploring the development of a cell based vaccine focused on the frameshift proteins resulting from slippage in microsatellites in these tumours.

The second major direction will be to develop a new technology in genotyping and gene sequencing using the concept of using nanowires to detect the electrical imedance changes associated with nucleotide binding.  Our startup company, QuantuMDx Group Limited has received second round funding and now holds a world exclusive licence for any diagnostic use of nanowires, nanotubes or nanoribbons. 

• Sims AJ, Keltie K, Burn J, Robson SC. Assessment of competency in clinical measurement: comparison of two forms of sequential test and sensitivity of test error rates to parameter choice. International Journal for Quality in Health Care 2013, 25(epub ahead of print).
• Manoukian S, Verderio P, Tabano S, Colapietro P, Pizzamiglio S, Grati FR, Calvello M, Peissel B, Burn J, Pensotti V, Allemani C, Sirchia SM, Radice P, Miozzo M. X chromosome inactivation pattern in BRCA gene mutation carriers. European Journal of Cancer 2013, 49(5), 1136-1141.
• Chan AT, Arber N, Burn J, Chia WK, Elwood P, Hull MA, Logan RF, Rothwell PM, Schror K, Baron JA. Aspirin in the Chemoprevention of Colorectal Neoplasia: An Overview. Cancer Prevention Research 2012, 5(2), 164-178.
• Burn J, Mathers JC, Bishop DT. Does aspirin really reduce the risk of colon cancer? Reply. Lancet 2012, 379(9826), 1587-1587.
• Patrinos GP, Smith TD, Howard H, Al-Mulla F, Chouchane L, Hadjisavvas A, Hamed SA, Li XT, Marafie M, Ramesar RS, Ramos FJ, de Rave T, El-Ruby MO, Shrestha TR, Sobrido MJ, Tadmouri G, Witsch-Baumgartner M, Zilfali BA, Auerbach AD, Carpenter K, Cutting GR, Dung VC, Grody W, Hasler J, Jorde L, Kaput J, Macek M, Matsubara Y, Padilla C, Robinson H, Rojas-Martinez A, Taylor GR, Vihinen M, Weber T, Burn J, Qi M, Cotton RGH, Rimoin D, Int Confederation Countries. Human variome project country nodes: Documenting genetic information within a country. Human Mutation 2012, 33(11), 1513-1519.
• Mathers JC, Movahedi M, Macrae F, Mecklin JP, Moeslein G, Olschwang S, Eccles D, Evans G, Maher ER, Bertario L, Bisgaard ML, Dunlop M, Ho JWC, Hodgson S, Lindblom A, Lubinski J, Morrison PJ, Murday V, Ramesar R, Side L, Scott RJ, Thomas HJW, Vasen H, Gerdes AM, Barker G, Crawford G, Elliott F, Pylvanainen K, Wijnen J, Fodde R, Lynch H, Bishop DT, Burn J, CAPP 2 Investigators. Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet Oncology 2012, 13(12), 1242-1249.
• Burn J, Mathers J, Bishop DT. Lynch Syndrome: History, Causes, Diagnosis, Treatment and Prevention (CAPP2 Trial). Digestive Diseases 2012, 30(s2), 39-47.
• Keogh MJ, Jonas P, Coulthard A, Chinnery PF, Burn J. Neuroferritinopathy: a new inborn error of iron metabolism. Neurogenetics 2012, 13(1), 93-96.
• Burn J. The shapes of things to come. In: British Human Genetics Conference. 2012, Coventry, UK: BMJ Group.
• Burn J, Bishop DT, Chapman PD, Elliott F, Bertario L, Dunlop MG, Eccles D, Ellis A, Evans DG, Fodde R, Maher ER, Moslein G, Vasen HFA, Coaker J, Phillips RKS, Bulow S, Mathers JC, for the International CAPP Consortium. A Randomized Placebo-Controlled Prevention Trial of Aspirin and/or Resistant Starch in Young People with Familial Adenomatous Polyposis. Cancer Prevention Research 2011, 4(5), 655-665.
• Burn J. Channel 4 film: White Men Can’t Run. Ground Floor, 46 – 52 Pentonville Road, London N1 9HF: Hey Buddy TV, 2011.
• Burn J. Chemoprevention. Viszeralmedizin 2011, 27(4), 322-328.
• Kohonen-Corish MRJ, Macrae F, Genuardi M, Aretz S, Bapat B, Bernstein IT, Burn J, Cotton RGH, den Dunnen JT, Frebourg T, Greenblatt MS, Hofstra R, Holinski-Feder E, Lappalainen I, Lindblom A, Maglott D, Moller P, Morreau H, Moslein G, Sijmons R, Spurdle AB, Tavtigian S, Tops CMJ, Weber TK, de Wind N, Woods MO, Contributors InSiGHT-HVP Workshop. Deciphering the Colon Cancer Genes-Report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010. Human Mutation 2011, 32(4), 491-494.
• Rajan N, Elliot R, Clewes O, Mackay R, Reis-Filho JS, Burn J, Langtry J, Sieber-Blum M, Lord CJ, Ashworth A. Dysregulated TRK signalling is a therapeutic target in CYLD defective tumours. Oncogene 2011, 30(41), 4243-4260.
• Rajan N, Burn J, Langtry J, Sieber-Blum M, Lord CJ, Ashworth A. Transition from cylindroma to spiradenoma in CYLD-defective tumours is associated with reduced DKK2 expression. Journal of Pathology 2011, 224(3), 309-321.
• Batey S, Vuillaume I, Devos D, Destee A, Curtis AJ, Lombes A, Curtis A, Burn J, Chinnery PF. A novel FTL insertion causing neuroferritinopathy. Journal of Medical Genetics 2010, 47(1), 71-72.
• Rajan N, Elliott R, Lord CJ, Burn J, Sieber-Blum M, Ashworth A. Advances in the development of new therapies for CYLD mutation carriers: Targeting Trk. In: British Society of Human Genetics Annual Conference. 2010, London, UK: BMJ Group.
• Burn J, Mathers JC, Gerdes AM, Bisgaard ML, Evans G, Eccles D, Lindblom A, Macrae F, Maher ER, Mecklin JP, Moslein G, Olschwang S, Ramesar R, Vasen HFA, Wijnen J, Barker G, Elliott F, Lynch H, Bishop DT, CAPP2 Consortium. Cancer Occurrence During Follow-Up of the CAPP2 Study: Aspirin Use For Up To Four Years Significantly Reduces Lynch Syndrome Cancers for up to Several Years After Completion of Therapy. In: Annals of Oncology: European Multidisciplinary Colorectal Cancer Congress. 2010, Nice, France: Oxford University Press.
• Cunnington MS, Santibanez Koref M, Mayosi BM, Burn J, Keavney B. Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression. PLoS Genetics 2010, 6(4), e1000899.
• Rajan N, Lord CJ, Clewes O, Burn J, Sieber-Blum M, Ashworth A. Dysregulated tropomyosin receptor kinase signalling in CYLDtrunc/trunc tumours. In: Annual Meeting of the British Society for Investigative Dermatology. 2010, Edinburgh, Scotland: British Journal of Dermatology.
• Kohonen-Corish MRJ, Al-Aama JY, Auerbach AD, Axton M, Barash CI, Bernstein I, Beroud C, Burn J, Cunningham F, Cutting GR, den Dunnen JT, Greenblatt MS, Kaput J, Katz M, Lindblom A, Macrae F, Maglott D, Moslein G, Povey S, Ramesar R, Richards S, Seminara D, Sobrido MJ, Tavtigian S, Taylor G, Vihinen M, Winship I, Cotton RGH, Contributors Human Variome Project. How to Catch All Those Mutations-The Report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010. Human Mutation 2010, 31(12), 1374-1381.
• Duffy SW, Mackay J, Thomas S, Anderson E, Evans DG, Fielder H, Fox R, Gray J, Gui G, Macmillan D, Moss S, Rogers C, Sainsbury R, Sibbering M, Boggis C, Burn J, Cuzick J, Haward B, Howell A, Mansel R, Cork HM, Robertson J, Patnick J, Pharoah P, Robinson A, Sutton S, Kataoka M, Moyle P, Wallis M, Warren R, Jones EL, Austoker J, Clements A, Watson E, Young K, Allgood P, Duffy P, Gabe R, Roberts L, Warsi I, Caunt J, Brentnall A, Dungey F, Lorincz A, Offman J, Adams M, Affen J, Aldous M, Allen A, Ames A, Audisio R, Ashworth S, Barnes A, Botham P, Brown D, Bullard S, Carpenter R, Chorley W, Christensen D, Coleman C, Coe C, Collier DS, Cooke J, Cooke TG, Crichton R, Crockett S, Dalgliesh D, Davies M, Deacon C, Douglas F, Drummond S, Ebbs S, Edwardson J, Elliott J, Evans S, Farnon C, Ferguson J, Fowler G, Gallegos N, Gaskell C, Gay J, Gilbert F, Thomas KG, Greenhalgh R, Hansell D, Mackean CH, Hartup S, Hayman J, Hill P, Hodgson S, Holcombe S, Hogg M, Hubbard C, Izatt L, Jacobs C, Jmor S, Jobson I, Kanani R, Kent M, Knight K, Lannigan A, Lewis C, MacArthur S, Marano C, Martin L, Matheson D, Maurice A, McClement J, McCarrick J, Miedzybrodska Z, Mortimer C, Moss L, Nejim A, Pallister D, Paterson J, Rai S, Ramm J, Ravisekar O, Read F, Ridley P, Roche N, Rockall L, Rogers M, Rothnie N, Rubin G, Saad Z, Sheppard C, Shere M, Silva ID, Simpson C, Smith D, Stallard S, Schuh KS, Stebbing A, Steel J, Stewart R, Stone M, Strukowska O, Tee E, Taylor A, Teh W, Thompson A, Thompson WD, Thompson WO, Toye R, Turton P, Vishwanath L, Walsh J, Williams M, Williamson J, Wise J, Wise M, Whitford P, Zammit C, FH01 Collaborative Teams. Mammographic surveillance in women younger than 50 years who have a family history of breast cancer: tumour characteristics and projected effect on mortality in the prospective, single-arm, FH01 study. Lancet Oncology 2010, 11(12), 1127-1134.
• Santibanez Koref M, Wilson V, Cartwright N, Cunnington MS, Mathers JC, Bishop DT, Curtis A, Dunlop MG, Burn J. MLH1 Differential Allelic Expression in Mutation Carriers and Controls. Annals of Human Genetics 2010, 74(6), 479-488.
• Cunnington MS, Koref MS, Mayosi B, Burn J, Keavney B. Modulation of Anril Expression May Mediate the Association Between Chromosome 9P21 Variants and Coronary Atherosclerosis Risk. In: Annual Conference and Exhibition of the British Cardiovascular Society. 2010, Manchester: Heart, BMJ Publushing Group.
• Cunnington M, Koref MS, Mayosi B, Burn J, Keavney B. Modulation of anril expression may mediate the association of chromosome 9P21 variants with coronary artery disease and stroke. In: 78th Congress of the European Atherosclerosis Society. 2010, Hamburg, Germany: Atherosclerosis Supplements, Elsevier.
• Beggs A, Latchford A, Vasen H, Moslein G, Alonso A, Aretz S, Bertario L, Blanco I, Bülow S, Burn J, Capella G, Colas C, Friedl W, Møller P, Hes F, Järvinen H, Mecklin J, Nagengast F, Parc Y, Phillips R, Hyer W, Ponz De Leon M, Renkonen-Sinisalo L, Sampson J, Stormorken A, Tejpar S, Thomas H, Wijnen J, Clark S, Hodgson S. Peutz - Jeghers syndrome: A systematic review and recommendations for management. Gut 2010, 59(7), 975-986.
• Vasen HFA, Moslein G, Alonso A, Aretz S, Bernstein I, Bertario L, Blanco I, Bulow S, Burn J, Capella G, Colas C, Engel C, Frayling I, Rahner N, Hes FJ, Hodgson S, Mecklin JP, Moller P, Myrhoj T, Nagengast FM, Parc Y, de Leon MP, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas HJW, Wijnen J, Lubinski J, Jarvinen H, Claes E, Heinimann K, Karagiannis JA, Lindblom A, Dove-Edwin I, Muller H. Recommendations to improve identification of hereditary and familial colorectal cancer in Europe. Familial Cancer 2010, 9(2), 109-115.
• Griffin HR, Topf A, Glen E, Zweier C, Stuart AG, Parsons J, Peart I, Deanfield J, O'Sullivan J, Rauch A, Scambler P, Burn J, Cordell HJ, Keavney B, Goodship JA. Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants. Heart 2010, 96, 1651-1655.
• Griffin HR, Topf A, Glen E, Zweier C, Stuart AG, Parsons J, Peart I, Deanfield J, O'Sullivan J, Rauch A, Scambler P, Burn J, Cordell HJ, Keavney B, Goodship JA. Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants. Heart 2010, 96(20), 1651-1655.
• Griffin H, Brown R, Santibanez-Koref M, Burn J, Curtis A. A screening assay for BRCA1 and BRCA2 mutations based on nonsense mediated decay. In: Journal of Medical Genetics: British Human Genetics Conference. 2009, University of Warwick, UK: BMJ Group.
• Cuzick J, Otto F, Baron JA, Brown PH, Burn J, Greenwald P, Jankowski J, La Vecchia C, Meyskens F, Senn HJ, Thun M. Aspirin and non-steroidal anti-inflammatory drugs for cancer prevention: an international consensus statement. Lancet Oncology 2009, 10(5), 501-507.
• Burn J, Gerdes AM, Mathers J, Mecklin JP, Macrae F, Moeslein G, Bisgaard ML, Ramesar R, Eccles D, Maher ER, Evans G, Morrison P, Bishop DT. Aspirin prevents cancer in Lynch syndrome. In: Journal of Medical Genetics: British Human Genetics Conference. 2009, University of Warwick, UK: BMJ Group.
• Burn J, Gerdes AM, Mecklin JP, Macrae F, Moeslein G, Bisgaard ML, Ramesar R, Eccles DT, Mathers JC, Bishop DT. Aspirin prevents cancer in Lynch syndrome. In: European Journal of Cancer Supplements: 15th Congress of the European Cancer Organization. 2009, Berlin, Germany: Pergamon.
• Dronamraju SS, Coxhead JM, Kelly SB, Burn J, Mathers JC. Cell kinetics and gene expression changes in colorectal cancer patients given resistant starch: a randomised controlled trial. Gut 2009, 58(3), 413-420.
• Devos D, Tchofo PJ, Vuillaume I, Destée A, Batey S, Burn J, Chinnery PF. Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation. Brain 2009, 132(6), e109.
• Griffin H, Eden J, Burn J, Curtis A. Diagnostic analysis of Norwegian BRCA mutations using Sequenom MALDI TOF mass spectrometry. In: Journal of Medical Genetics: British Human Genetics Conference. 2009, University of Warwick, UK: BMJ Group.
• Bishop DT, Burn J, Mathers JC. Effect of Aspirin or Resistant Starch on Colorectal Neoplasia in the Lynch Syndrome THE AUTHORS REPLY. New England Journal of Medicine 2009, 360(14), 1462-1463.
• Rajan N, Trainer A, Burn J, Langtry J. Familial cylindromatosis and brooke-spiegler syndrome: A review of current therapeutic approaches and the surgical challenges posed by two affected families. Dermatologic Surgery 2009, 35(5), 845-852.
• Bertagnolli MM, Eagle CJ, Zauber AG, Redston M, Breazna A, Kim K, Tang J, Rosenstein RB, Umar A, Bagheri D, Collins NT, Burn J, Chung DC, Dewar T, Foley TR, Hoffman N, Macrae F, Pruitt RE, Saltzman JR, Salzberg B, Sylwestrowicz T, Hawk ET, Adenoma Prevention Celecoxib Study. Five-Year Efficacy and Safety Analysis of the Adenoma Prevention with Celecoxib Trial. Cancer Prevention Research 2009, 2(4), 310-321.
• Griffin HR, Hall DH, Topf A, Eden J, Stuart AG, Parsons J, Peart I, Deanfield JE, O'Sullivan J, Babu-Narayan SV, Gatzoulis MA, Bu'lock FA, Bhattacharya S, Bentham J, Farrall M, Riveron JG, Brook JD, Burn J, Cordell HJ, Goodship JA, Keavney B. Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation. PLoS ONE 2009, 4(3), e4978.
• Grindedal EM, Blanco I, Stormorken A, Maehle L, Clark N, Gonzalez S, Capella G, Vasen H, Burn J, Moller P. High risk of endometrial cancer in colorectal cancer kindred is pathognomonic for MMR-mutation carriers. Familial Cancer 2009, 8(2), 145-151.
• Cunnington MS, Santibanez Koref MS, Mayosi BM, Burn J, Keavney B. Modulation of ANRIL Expression is a Possible Mechanism Mediating the Association Between Chromosome 9p21 Polymorphisms and Coronary Atherosclerosis Risk. In: Circulation: 82nd Scientific Session of the American Heart Association. 2009, Orlando, Florida, USA: Lippincott Williams & Wilkins.
• Kaput J, Cotton RGH, Hardman L, Watson M, Al Aqeel AI, Al-Aama JY, Al-Mulla F, Alonso S, Aretz S, Auerbach AD, Bapat B, Bernstein IT, Bhak J, Bleoo SL, Blocker H, Brenner SE, Burn J, Bustamante M, Calone R, Cambon-Thomsen A, Cargill M, Carrera P, Cavedon L, Cho YS, Chung YJ, Claustres M, Cutting G, Dalgleish R, den Dunnen JT, Diaz C, Dobrowolski S, dos Santos MRN, Ekong R, Flanagan SB, Flicek P, Furukawa Y, Genuardi M, Ghang H, Golubenko MV, Greenblatt MS, Hamosh A, Hancock JM, Hardison R, Harrison TM, Hoffmann R, Horaitis R, Howard HJ, Barash CI, Izagirre N, Jung J, Kojima T, Laradi S, Lee YS, Lee JY, Gil-da-Silva-Lopes VL, Macrae FA, Maglott D, Marafie MJ, Marsh SGE, Matsubara Y, Messiaen LM, Moslein G, Netea MG, Norton ML, Oefner PJ, Oetting WS, O'Leary JC, de Ramirez AMO, Paalman MH, Parboosingh J, Patrinos GP, Perozzi G, Phillips IR, Povey S, Prasad S, Qi M, Quin DJ, Ramesar RS, Richards CS, Savige J, Scheible DG, Scott RJ, Seminara D, Shephard EA, Sijmons RH, Smith TD, Sobrido MJ, Tanaka T, Tavtigian SV, Taylor GR, Teague J, Topel T, Ullman-Cullere M, Utsunomiya J, van Kranen HJ, Vihinen M, Webb E, Weber TK, Yeager M, Yeom YI, Yim SH, Yoo HS, Human Variome Project Planning. Planning the Human Variome Project: The Spain Report. Human Mutation 2009, 30(4), 496-510.
• Bishop D, Burn J, Mathers J. The authors reply. New England Journal of Medicine 2009, 360(14), 1462-1463.
• Rajan N, Langtry JAA, Ashworth A, Roberts C, Chapman P, Burn J, Trainer AH. Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations: Implications for Disease Management and Tumor Induction. Archives of Dermatology 2009, 145(11), 1277-1284.
• Burn J. Can a cell have a soul?. British Medical Journal 2008, 336(7653), 1132.
• Curtis A, Chinnery PF, Batey SJ, Curtis A, Burn J. Characterisation of a novel neuroferritinopathy mutation in a French family. In: British Human Genetics Conference 2008. 2008, University of York, UK: Journal of Medical Genetics: BMJ Group.
• Stanley L, Coxhead J, Burn J, Curtis A. Early experiences in amplicon sequencing using the Roche GS-FLX massively parallel DNA sequencer and its application within a diagnostic laboratory. In: British Human Genetics Conference 2008. 2008, University of York, UK: Journal of Medical Genetics: BMJ Group.
• Burn J, Bishop DT, Mecklin JP, Macrae F, Moslein G, Olschwang S, Bisgaard ML, Ramesar R, Eccles D, Maher ER, Bertario L, Jarvinen HJ, Lindblom A, Evans DG, Lubinski J, Morrison PJ, Ho JWC, Vasen HFA, Side L, Thomas HJW, Scott RJ, Dunlop M, Barker G, Elliott F, Jass JR, Fodde R, Lynch HT, Mathers JC, CAPP2 Investigators. Effect of Aspirin or Resistant Starch on Colorectal Neoplasia in the Lynch Syndrome. New England Journal of Medicine 2008, 359(24), 2567-2578.
• Brown SJ, Relton CL, Liao H, Zhao Y, Sandilands A, Wilson IJ, Burn J, Reynolds NJ, McLean WH, Cordell HJ. Filaggrin loss-of-function mutations and childhood atopic eczma: a population-based case-control study. Journal of Allergy and Clinical Immunology 2008, 121(4), 940-946.e3.
• Brown S, Relton C, Liao H, Zhao Y, Sandilands A, Burn J, Cordell H, McLean WHI, Reynolds N. Filaggrin mutations in atopic eczema: genotype-phenotype correlation. In: 88th Annual Meeting of the British Association of Dermatologists. 2008, Liverpool, UK: British Journal of Dermatology: Wiley-Blackwell.
• Brown SJ, Relton CL, Liao H, Zhao Y, Sandilands A, Wilson IJ, Burn J, Reynolds NJ, McLean W, Cordell HJ. Filaggrin null mutations in mild-moderate atopic eczema: a population-based case-control study. In: International Investigative Dermatology Meeting. 2008, Kyoto, Japan: Journal of Investigative Dermatology: Nature Publishing Group.
• Cotton RGH, Auerbach AD, Axton M, Barash CI, Berkovic SF, Brookes AJ, Burn J, Cutting G, den Dunnen JT, Flicek P, Freimer N, Greenblatt MS, Howard HJ, Katz M, Macrae FA, Maglott D, Moslein G, Povey S, Ramesar RS, Richards CS, Seminara D, Smith TD, Sobrido M-J, Solbakk JH, Tanzi RE, Tavtigian SV, Taylor GR, Utsunomiya J, Watson M. GENETICS: The Human Variome Project. Science 2008, 322(5903), 861-862.
• Vasen HFA, Moslein G, Alonso A, Aretz S, Bernstein I, Bertario L, Blanco I, Bulow S, Burn J, Capella G, Colas C, Engel C, Frayling I, Friedl W, Hes FJ, Hodgson S, Jarvinen H, Mecklin J-P, Moller P, Myrhoi T, Nagengast FM, Pare Y, Phillips R, Clark SK, Ponz De Leon M, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas HJW, Wijnen J. Guidelines for the clinical management of familial adenomatous polyposis (FAP). In: Gut: Workshop on Hereditary Gastrointestinal Cancer. 2008, Mallorca, Spain: BMJ Group.
• Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B, Abdulla F, Abramowicz M, Amy S, Schafer I, Bankier A, White S, Barcina MG, Bartoshesky LE, Jenny K, Beemer FA, Benke P, Betz RC, Bianchini G, Garavelli L, Bigoni S, Bird L, Chibuk J, Masser-Frye D, Brunetti N, Scarcella A, Brunner HG, Burn J, Carmi R, Castellan C, Castelluccio P, Castle B, Chiong MA, Cutiongco EM, Collins F, Couchon E, Curry A, Pastore M, Curry C, Swenerton A, Treisman T, Dean J, Devriendt K, Matthijs G, Dunlap JW, Shashi V, Elcioglu N, Farndon P, Ferrero GB, Ferrier R, Foulds N, Friedman JM, Gal A, Orth U, Gardner M, Gerola O, Gillessen-Kaesbach G, Giuliano F, Turc-Carel C, Godde E, Graber V, Graham GE, Gurrieri F, Harbour L, Henderson A, Jones E, Heran H, Homfray T, Taylor R, Iwarsson E, Jensen P, Jezela-Stanek A, Joss S, Taylor G, Keeling SL, Klatt R, Teebi A, Klehr-Martinelli M, Kotzot D, Lees M, Loughlin S, Lhotta K, Macdonald F, Mari F, Renieri A, Marlin S, McGaughran J, McKenzie F, McLeod DR, Megarbane A, Mota CR, Mucke J, Tzschach A, Obersztyn E, Okhowat R, Shinzel A, Pfau R, Pober B, Raymond FL, Reich E, Reimschisel T, Robertson J, Roggenbuck J, Sabato A, Sanchez Del Pozo J, Schell-Apacik C, Schwaab E, Selicorni A, Sell S, Smithson S, Stray-Pedersen A, Tan T, Thiese H, Tol J, Toprak O, Trump D, Whittaker J, Williams D, Zelante L, Zoll B. Mutational spectrum of the oral-facial-digital type I syndrome: A study on a large collection of patients. Human Mutation 2008, 29(10), 1237-1246.
• Liljegren A, Barker G, Elliott F, Bertario L, Bisgaard ML, Eccles D, Evans G, Macrae F, Maher E, Lindblom A, Rotstein S, Nilsson B, Mecklin JP, Moslein G, Jass J, Fodde R, Mathers J, Burn J, Bishop DT. Prevalence of Adenomas and Hyperplastic Polyps in Mismatch Repair Mutation Carriers Among CAPP2 Participants: Report by the Colorectal Adenoma/Carcinoma Prevention Programme 2. Journal of Clinical Oncology 2008, 26(20), 3434-3439.
• Norum J, Hagen AI, Maehle L, Apold J, Burn J, Moller P. Prophylactic bilateral salpingo-oophorectomy (PBSO) with or without prophylactic bilateral mastectomy (PBM) or no intervention in BRCA1 mutation carriers. A cost-effectiveness analysis. In: EJC Supplements: 6th European Breast Cancer Conference. 2008, Berlin, Germany: Pergamon.
• Norum J, Hagen AI, Maehle L, Apold J, Burn J, Moller P. Prophylactic bilateral salpingo-oophorectomy (PBSO) with or without prophylactic bilateral mastectomy (PBM) or no intervention in BRCA1 mutation carriers: A cost-effectiveness analysis. European Journal of Cancer 2008, 44(7), 963-971.
• Burn J, Bishop DT, Mecklin J, Macrae F, Moslein G, Olschwang S, Bisgaard M, Ramesar R, Elliott F, Mathers J. Results of the CAPP-2-trial (Aspirin and resistant starch) in HNPCC gene carriers. In: EJC Supplements: 5th International Conference on Cancer Prevention. 2008, St Gallen, Switzerland: Pergamon.
• Irving C, Basu A, Richmond S, Burn J, Wren C. Twenty-year trends in prevalence and survival of Down syndrome. European Journal of Human Genetics 2008, 16(11), 1336-1340.
• Burn J, Bishop DT, Mecklin JP, Macrae F, Moeslein G, Olschwang S, Bisgaard MLS, Ramesar R, Jass J, Lynch HT, Barker G, Elliott F, Mathers JCM. CAPP2: a randomised chemoprevention trial of aspirin and resistant starch in Lynch Syndrome. In: Journal of Medical Genetics. 2007, B M A House, Tavistock Sq, London WC1H 9JR United Kingdom: BMJ Group.
• Chinnery PF, Crompton DE, Birchall D, Jackson MJ, Coulthard A, Lombes A, Quinn N, Wills A, Fletcher N, Mottershead JP, Cooper P, Kellett M, Bates D, Burn J. Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation. Brain 2007, 130(1), 110-119.
• Burn J. Discovery of structure of DNA: the best is yet to come. British Medical Journal 2007, 334(Suppl 1), s9.
• Burn J. Discovery of structure of DNA: the best is yet to come. British Medical Journal 2007, 334, s9-.
• Vasen HFA, Moslein G, Alonso A, Bernstein I, Bertario L, Blanco I, Burn J, Capella G, Engel C, Frayling I, Friedl W, Hes FJ, Hodgson S, Mecklin J-P, Moller P, Nagengast F, Parc Y, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Wijnen J. Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). Journal of Medical Genetics 2007, 44(6), 353-362.
• Douglas J, Cilliers D, Coleman K, Tatton-Brown K, Barker K, Bernhard B, Burn J, Huson S, Josifova D, Lacombe D, Malik M, Mansour S, Reid E, Cormier-Daire V, Cole T, Rahman N. Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth. Nature Genetics 2007, 39(8), 963-965.
• Hautot D, Pankhurst QA, Morris CM, Curtis A, Burn J, Dobson J. Preliminary observation of elevated levels of nanocrystalline iron oxide in the basal ganglia of neuroferritinopathy patients. Biochimica et Biophysica Acta - Molecular Basis of Disease 2007, 1772(1), 21-25.
• Bertagnolli MM, Eagle CJ, Zauber AG, Redston M, Solomon SD, Kim K, Tang J, Rosenstein RB, Wittes J, Corle D, Hess TM, Woloj GM, Boisserie F, Anderson WF, Viner JL, Bagheri D, Burn J, Chung DC, Dewar T, Foley TR, Hoffman N, Macrae F, Pruitt RE, Saltzman JR, Salzberg B, Sylwestrowicz T, Gordon GB, Hawk ET. Celecoxib for the prevention of sporadic colorectal adenomas. New England Journal of Medicine 2006, 355(9), 873-884.
• Venables JP, Burn J. EASI - Enrichment of alternatively spliced isoforms. Nucleic Acids Research 2006, 34(15), e103.
• Burn J, Sims AJ, Ford GA, Murray A. Factors affecting the use of cumulative sums in the analysis of circadian blood pressure. Physiological Measurement 2006, 27(6), 529-538.
• Park J-G, Kim D-W, Hong CW, Nam B-H, Shin Y-K, Hong S-H, Kim I-J, Lim S-B, Aronson M, Bisgaard ML, Brown GJ, Burn J, Chow E, Conrad P, Douglas F, Dunlop M, Ford J, Greenblatt MS, Heikki J, Heinimann K, Lynch EL, Macrae F, McKinnon WC, Moeslein G, Rossi BM, Rozen P, Schofield L, Vaccaro C, Vasen H, Velthuizen M, Viel A, Wijnen J. Germ line mutations of mismatch repair genes in hereditary nonpolyposis colorectal cancer patients with small bowel cancer: International society for gastrointestinal hereditary tumours collaborative study. Clinical Cancer Research 2006, 12(11), 3389-3393.
• Burn J, Chinnery PF. Neuroferritinopathy. Seminars in Pediatric Neurology 2006, 13(3), 176-181.
• Opitz JM, Burn J. RE: Correspondence from Wieczorek & Gillessen-Kaesbach and Hing & Parisi. American Journal of Medical Genetics, Part A 2006, 140(21), 2385.
• Burn J. The current status of chemoprevention in FAP: Commentary. Familial Cancer 2006, 5(3), 295-296.
• Borthwick GM, Johnson AS, Partington M, Burn J, Wilson R, Arthur HM. Therapeutic levels of aspirin and salicylate directly inhibit a model of angiogenesis through a Cox-independent mechanism. The FASEB Journal 2006, 20(12), 2009-2016.
• Cockburn D, Dyson L, Emslie J, Ellwood S, Kennedy D, Williams K, Blair M, Shaw R, Burn J. A pragmatic solution to data exchange between NHS regional molecular genetics laboratories: L2L. In: British Human Genetics Conference. 2005, University of York, UK: Journal of Medical Genetics, BMJ Group.
• Wilson V, Santibanez-Koref M, Strain L, Eden J, Curtis A, Burn J. Altered allele expression in hereditary nonpolyosis colon cancer (HNPCC) patients with nonsense mutations in the Mut L homologue (MLH1) gene. In: Journal of Medical Genetics: British Human Genetics Conference. 2005, York, UK: BMJ Group.
• Relton CL, Pearce MS, Burn J, Parker L. An investigation of folate-related genetic factors in the determination of birthweight. Paediatric and Perinatal Epidemiology 2005, 19(5), 360-367.
• Crossland DS, Jackson SP, Lyall R, Burn J, O'Sullivan JJ. Employment and advice regarding careers for adults with congenital heart disease. Cardiology in the Young 2005, 15(4), 391-395.
• Relton CL, Pearce MS, Ness A, Burn J. Folate Status and Genetic Selection. Nature Genetics 2005.
• Hitchins M, Williams R, Cheong K, Halani N, Lin VAP, Packham D, Ku S, Buckle A, Hawkins N, Burn J, Gallinger S, Goldblatt J, Kirk J, Tomlinson I, Scott R, Spigelman A, Suter C, Martin D, Suthers G, Ward R. MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer. Gastroenterology 2005, 129(5), 1392-1399.
• Van Der Klift H, Wijnen J, Wagner A, Verkuilen P, Tops C, Otway R, Kohonen-Corish M, Vasen H, Oliani C, Barana D, Moller P, DeLozier-Blanchet C, Hutter P, Foulkes W, Lynch H, Burn J, Moslein G, Fodde R. Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2, MLH1, MSH6, and PMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC). Genes Chromosomes and Cancer 2005, 44(2), 123-138.
• Crossland DS, Jackson SP, Lyall R, Hamilton JRL, Hasan A, Burn J, O'Sullivan JJ. Patient attitudes to sternotomy and thoracotomy scars. Thoracic and Cardiovascular Surgeon 2005, 53(2), 93-95.
• Arun R, Khazim R, Webb JK, Burn J. Scoliosis in association with infantile hypophosphatasia - A case study in two siblings. Spine 2005, 30(16), E471-E476.
• Crompton DE, Chinnery PF, Bates D, Walls TJ, Jackson MJ, Curtis AJ, Burn J. Spectrum of movement disorders in neuroferritinopathy. Movement Disorders 2005, 20(1), 95-99.
• Chow E, Macrae F, Burn J. Survey of HNPCC management: Analysis of responses from 18 International Cancer Centres. Hereditary Cancer in Clinical Practice 2005, 3(4), 137-146.
• Bian Y, Caldes T, Wijnen J, Franken P, Vasen H, Kaklamani V, Nafa K, Peterlongo P, Ellis N, Baron JA, Burn J, Moeslein G, Morrison PJ, Chen Y, Ahsan H, Watson P, Lynch HT, de la Chapelle A, Fodde R, Pasche B. TGFBR1*6A may contribute to hereditary colorectal cancer. Journal of Clinical Oncology 2005, 23(13), 3074-3078.
• Burn J. [abstract] Specific issues in colon cancer. EJC Supplements 2005, 3(2), 9.
• Tonkin ET, Smith M, Eichhorn P, Jones S, Imamwerdi B, Lindsay S, Jackson M, Wang T-J, Ireland M, Burn J, Krantz ID, Carr P, Strachan T. A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3. Human Genetics 2004, 115(2), 139-148.
• Johnson AS, Arthur HM, Burn J, Wilson RG. Bowel cancer prevention: Aspirin induces Cox-2 independent endothelial cell apoptosis facilitating angiogenesis arrest. In: Gut: Annual Meeting of the British Society of Gastroenterology. 2004, Glasgow, UK: BMJ Group.
• Relton CL, Daniel CP, Hammal DM, Parker L, Tawn EJ, Burn J. DNA repair gene polymorphisms, pre-natal factors and the frequency of somatic mutations in the glycophorin-A gene among healthy newborns. Mutation Research: Fundamental and Molecular Mechanisms of Mutagenesis 2004, 545(1-2), 49-57.
• Relton CL, Daniel CP, Hammal DM, Parker L, Tawn EJ, Burn J. DNA repair gene polymorphisms, pre-natal factors and the frequency of somatic mutations in the glycophorin-A gene among healthy newborns. Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis 2004, 545(1-2), 49-57.
• Relton CL, Wilding CS, Pearce MS, Laffling AJ, Jonas PA, Lynch SA, Tawn EJ, Burn J. Gene-gene interaction in folate-related genes and risk of neural tube defects in a UK population. Journal of Medical Genetics 2004, 41(4), 256-260.
• Crossland DS, Jackson SP, Lyall R, Hamilton JRL, Hasan A, Burn J, O'Sullivan JJ. Life insurance and mortgage application in adults with congenital heart disease. European Journal of Cardio-Thoracic Surgery 2004, 25(6), 931-934.
• Relton CL, Wilding CS, Laffling AJ, Jonas PA, Burgess T, Binks K, Tawn EJ, Burn J. Low erythrocyte folate status and polymorphic variation in folate-related genes are associated with risk of neural tube defect pregnancy. Molecular Genetics and Metabolism 2004, 81(4), 273-281.
• Crompton DE, Griffiths TD. Not a laughing matter. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2004.
• Liljegren A, Barker G, Mathers J, Lindblom A, Nilsson B, Rotstein S, Burn J, Bishop T, CAPP2 Study Grp. Prevalence of adenomas and hyperplastic polyps in carriers of HNPCC (LYNCH Syndrome). In: Journal of Clinical Oncology: 40th Annual Meeting of the American Society of Clinical Oncology. 2004, New Orleans, Lousiana, USA: American Society of Clinical Oncology.
• Burn J, Mathers J, Barker G, Bishop T. Resistant starch and aspirin in genetically predisposed people: The CAPP studies. In: Cancer Epidemiology, Biomarkers & Prevention: 3rd Annual AACR International Conference. 2004, Seattle, Washington, USA: American Association for Cancer Research.
• Wilding CS, Relton CL, Sutton MJ, Jonas PA, Lynch S-A, Tawn EJ, Burn J. Thymidylate synthase repeat polymorphisms and risk of neural tube defects in a population from the northern United Kingdom. Birth Defects Research Part A - Clinical and Molecular Teratology 2004, 70(7), 483-485.
• Adams JM, White M, Barker G, Mathers JC, Burn J. Are there socio-economic inequalities in age of resection of colorectal cancer in people with HNPCC?. Familial Cancer 2003, 2(3-4), 169-173.
• Mathers JC, Mickleburgh I, Chapman PC, Bishop DT, Burn J. Can resistant starch and/or aspirin prevent the development of colonic neoplasia?. Proceedings of the Nutrition Society 2003, 62(1), 51-72.
• Mathers JC, Mickleburgh I, Chapman PC, Bishop DT, Burn J. Can resistant starch and/or aspirin prevent the development of colonic neoplasia? The Concerted Action Polyp Prevention (CAPP) 1 Study. In: 7th International Vahouny Fibre Symposium. 2003, Royal College of Physicians, Edinburgh: Proceedings of the Nutrition Society: Cambridge University Press.
• Boyle P, Autier P, Bartelink H, Baselga J, Boffetta P, Burn J, Burns HJG, Christensen L, Denis L, Dicato M, Diehl V, Doll R, Franceschi S, Gillis CR, Gray N, Griciute L, Hackshaw A, Kasler M, Kogevinas M, Kvinnsland S, La Vecchia C, Levi F, McVie JG, Maisonneuve P, Martin-Moreno JM, Newton Bishop J, Oleari F, Perrin P, Quinn M, Richards M, Ringborg U, Scully C, Siracka E, Storm H, Tubiana M, Tursz T, Veronesi U, Wald N, Weber W, Zaridze DG, Zatonski W, zur Hausen H. European Code Against Cancer and scientific justification: Third version (2003). Annals of Oncology 2003, 14(7), 973-1005.
• Taylor CF, Charlton RS, Burn J, Sheridan E, Taylor GR. Genomic Deletions in MSH2 or MLH1 Are a Frequent Cause of Hereditary Non-Polyposis Colorectal Cancer: Identification of Novel and Recurrent Deletions by MLPA. Human Mutation 2003, 22(6), 428-433.
• Ewart-Toland A, Briassouli P, De Koning JP, Mao J-H, Yuan J, Chan F, MacCarthy-Morrogh L, Ponder BAJ, Nagase H, Burn J, Ball S, Almeida M, Linardopoulos S, Balmain A. Identification of Stk6/STK15 as a candidate low-penetrance tumor-susceptibility gene in mouse and human. Nature Genetics 2003, 34(4), 403-412.
• Wagner A, Barrows A, Wijnen JTh, Van Der Klift H, Franken PF, Verkuijlen P, Nakagawa H, Geugien M, Jaghmohan-Changur S, Breukel C, Meijers-Heijboer H, Morreau H, Van Puijenbroek M, Burn J, Coronel S, Kinarski Y, Okimoto R, Watson P, Lynch JF, De La Chapelle A, Lynch HT, Fodde R. Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: High mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. American Journal of Human Genetics 2003, 72(5), 1088-1100.
• Torsney E, Charlton R, Diamond AG, Burn J, Soames JV, Arthur HM. Mouse model for hereditary hemorrhagic telangiectasia has a generalized vascular abnormality. Circulation 2003, 107(12), 1653-1657.
• Chinnery PF, Curtis ARJ, Fey C, Coulthard A, Crompton D, Curtis A, Lombes A, Burn J. Neuroferritinopathy in a French family with late onset dominant dystonia. Journal of Medical Genetics 2003, 40(5), -.
• Johnson S, Arthur HM, Burn J, Wilson RG. Non steroidal anti-inflammatory drugs and colorectal cancer prevention: Evidence for a cox-2 independent anti-angiogenic effect. In: Cancer Epidemiology, Biomarkers & Prevention: 2nd Annual AACR International Conference on Frontiers in Cancer Prevention Research. 2003, Phoenix, Arizona, USA: American Association for Cancer Research.
• Burn J, Chapman PD, Bishop DT, Dixon R, Turner F, Coaker J, Dunlop MG, Eccles D, Ellis A, Fidalgo P, Vasen HF, Fodde R, Moslein G, Bulow S, Phillips RKS, Bertario L, Evans G, Mathers J. Results of the CAPP1 Study: aspirin and resistant starch are beneficial in familial adenomatous polyposis. In: American Journal of Human Genetics: Annual Meeting of the American Society of Human Genetics. 2003, Los Angeles, California, USA: Cell Press.
• Meijers-Heijboer H, Wijnen J, Vasen H, Wasielewski M, Wagner A, Hollestelle A, Elstrodt F, Van Den Bos R, De Snoo A, Fat GTA, Brekelmans C, Jagmohan S, Franken P, Verkuijlen P, Van Den Ouweland A, Chapman P, Tops C, Moslein G, Burn J, Lynch H, Klijn J, Fodde R, Schutte M. The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype. American Journal of Human Genetics 2003, 72(5), 1308-1314.
• Arthur H, Torsney E, Burn J. The role of endoglin in cardiovascular development. In: Genetical Research: 13th Genetics-Societys Mammalian Genetics and Development Workshop. 2003, London, UK: Cambridge University Press.
• Klauck SM, Lindsay S, Beyer KS, Splitt M, Burn J, Poustka A. A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome. American Journal of Human Genetics 2002, 70(4), 1034-1037.
• Hutter P, Wijnen J, Rey-Berthod C, Thiffault I, Verkuijlen P, Farber D, Hamel N, Bapat B, Thibodeau SN, Burn J, Wu J, MacNamara E, Heinimann K, Chong G, Foulkes WD. An MLH1 haplotype is over-represented on chromosomes carrying an HNPCC predisposing mutation in MLH1. Journal of Medical Genetics 2002, 39(5), 323-327.
• Fey C, Curtis ARJ, Chinnery PF, Lombes A, Morris CM, Curtis A, Burn J. Did neuroferritinopathy originate in France?. In: European Journal of Human Genetics: European Society of Human Genetics European Human Genetics Conference in Conjuction With European Meeting on Psychosocial Aspects of Genetics. 2002, Strasbourg, France: Nature Publishing Group.
• Chinnery PF, Reading PJ, McCarthy EL, Curtis A, Burn J. Late-onset axial jerky dystonia due to the DYT1 deletion. Movement Disorders 2002, 17(1), 196-198.
• Chinnery PF, Curtis AR, Fey C, Jackson MJ, Bates D, Morris CM, Bindoff LA, Coulthard A, Ince PG, Curtis A, Burn J. Neuroferritinopathy. Journal of Neurology, Neurosurgery and Psychiatry 2002, 73(2), 213-213.
• Crompton DE, Chinnery PF, Fey C, Curtis ARJ, Morris CM, Kierstan J, Burt A, Young F, Coulthard A, Curtis A, Ince PG, Bates D, Jackson MJ, Burn J. Neuroferritinopathy: A window on the role of iron in neurodegeneration. In: Blood Cells, Molecules and Diseases: Meeting on Molecular and Clinical Aspects of Human Iron Metabolism. 2002, Chiemesee, Germany: Academic Press.
• Relton CL, Daniel CP, Fisher A, Chase DS, Burn J, Tawn EJ. Polymorphisms of the DNA repair gene XRCC1 and the frequency of somatic mutations at the glycophorin A locus in newborns. Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis 2002, 502(1-2), 61-68.
• Toutain A, Dessay B, Ronce N, Ferrante MI, Tranchemontagne J, Newbury-Ecob R, Wallgren-Pettersson C, Burn J, Kaplan J, Rossi A, Russo S, Walpole I, Hartsfield JK, Oyen N, Nemeth A, Bitoun P, Trump D, Moraine C, Franco B. Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes. European Journal of Human Genetics 2002, 10(9), 516-520.
• Hutter P, Wijnen J, Chong G, Ray-Berthod C, Thiffault I, Thibodeau S, Burn J, Wong N, Chappuis P. Some germ-line mutations in mismatch repair genes in HNPCC patients may confer an increased risk for additional germline defects. In: American Journal of Human Genetics: 52nd Annual Meeting of the American Society of Human Genetics. 2002, Baltimore, Maryland, USA: Cell Press.
• Fey C, Curtis ARJ, Chinnery PF, Morris CM, Ince PG, Coulthard A, Jackson MJ, Barker WA, Curtis A, Burn J. A dominant FTL mutation causes a novel and pleiotropic basal ganglia disorder that can mimic torsion-dystonia, Huntington's Disease and parkinsonism. American Journal of Human Genetics 2001, 69(4), 97.
• Tonkin E, Smith M, Eichhorn P, Hagan DM, Herrell S, Lusher M, Ireland M, Burn J, Strachan T. A novel gene is disrupted by a Cornelia de Lange-associated translocation breakpoint at 3q26.3. In: American Journal of Human Genetics. 2001, Cell Press.
• Mills SJ, Mathers JC, Chapman PD, Burn J, Gunn A. Colonic crypt cell proliferation state assessed by whole crypt microdissection in sporadic neoplasia and familial adenomatous polyposis. Gut 2001, 48(1), 41-46.
• Witsch-Baumgartner M, Ciara E, Loffler J, Menzel HJ, Seedorf U, Burn J, Gillessen-Kaesbach G, Hoffmann GF, Fitzky BU, Mundy H, Clayton P, Kelley RI, Krajewska-Walasek M, Utermann G. Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: Evidence for different origins of common mutations. European Journal of Human Genetics 2001, 9(1), 45-50.
• Curtis A, Fey C, Morris CM, Ince PG, Bindoff LA, Jackson MJ, Coulthard A, Curtis A, Burn J. Mutation in ferritin light chain causes dominant adult onset basal ganglia disease. In: Journal of Medical Genetics. 2001, BMJ Group.
• Curtis ARJ, Fey C, Morris CM, Bindoff LA, Ince PG, Chinnery PF, Coulthard A, Jackson MJ, Jackson AP, McHale DP, Hay D, Barker WA, Markham AF, Bates D, Curtis A, Burn J. Mutation in ferritin light chain causes dominant adult onset neurodegeneration. Nature Genetics 2001, 28(4), 350-354.
• Curtis ARJ, Fey C, Morris CM, Bindoff LA, Ince PG, Chinnery PF, Coulthard A, Jackson MJ, Jackson AP, McHale DP, Hay D, Barker WA, Markham AF, Bates D, Curtis A, Burn J. Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nature Genetics 2001, 28(4), 350-354.
• Chase DS, Tawn EJ, Jonas P, Parker L, Killip J, Burn J. The North Cumbria Community Genetics Project - Public support for a DNA bank. In: Journal of Medical Genetics. 2001, BMJ Group.
• Healey CS, Dunning AM, Dawn Teare M, Chase D, Parker L, Burn J, Chang-Claude J, Mannermaa A, Kataja V, Huntsman DG, Pharoah PDP, Luben RN, Easton DF, Ponder BAJ. A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability. Nature Genetics 2000, 26(3), 362-364.
• Burn J, Curtis AR, Bindoff L, Ince P, Coulthard A, Jackson A, Jackson M, Fey C, Hay D, Shepherd D, Bates D, Curtis A. A novel autosomal dominant basal ganglia degeneration with cavitation on 19q can mimic Parkinson's disease and Huntington's disease. American Journal of Human Genetics 2000, 67(4), 371-371.
• Healey C, Dunning AM, Teare DM, Chase D, Burn J, Chang-Claude J, Mannermaa A, Easton DF, Ponder BAJ, Parker L, Kataja V, Pharoah PDP, Luben RN. Association of a common variant in BRCA2 with breast cancer and pre-natal development. In: JOURNAL OF MEDICAL GENETICS. 2000.
• Lynch SA, Wang Y, Strachan T, Burn J, Lindsay S. Autosomal dominant sacral agenesis: Currarino syndrome. Journal of Medical Genetics 2000, 37(8), 561-566.
• Hopwood P, Wonderling D, Cull A, Douglas F, Watson M, Burn J, McPherson K, Cole T, Eccles D, Gray J, Murday V, Steel M. Cancer genetics counselling - psychosocial outcomes one month after first consultation. In: JOURNAL OF MEDICAL GENETICS. 2000.
• Fidalgo P, Almeida MR, West S, Gaspar C, Maia L, Wijnen J, Albuquerque C, Curtis A, Cravo M, Fodde R, Leitao CN, Burn J. Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach. European Journal of Human Genetics 2000, 8(1), 49-53.
• Finnell RH, Burn J. Effect of anti-epileptic drugs on intrauterine growth. Lancet 2000, 356(9241), 1537-1538.
• Pinkett R, Spencer V, Curtis A, Hamzehloei T, Cross I, Burn J, Douglas F, West S, Chapman P, Gunn A. Genetic testing for familiar adenomatous polyposis coli (FAP) in Newcastle: eight years on. In: JOURNAL OF MEDICAL GENETICS. 2000.
• Bignell GR, Warren W, Seal S, Takahashi M, Rapley E, Barfoot R, Green H, Brown C, Biggs PJ, Lakhani SR, Jones C, Hansen J, Blair E, Hofmann B, Siebert R, Turner G, Gareth Evans D, Schrander-Stumpel C, Beemer FA, Van Den Ouweland A, Halley D, Delpech B, Cleveland MG, Leigh I, Leisti J, Rasmussen S, Wallace MR, Fenske C, Banerjee P, Oiso N, Chaggar R, Merrett S, Leonard N, Huber M, Hohl D, Chapman P, Burn J, Swift S, Smith A, Ashworth A, Stratton MR. Identification of the familial cylindromatosis tumour-suppressor gene. Nature Genetics 2000, 25(2), 160-165.
• Daniel CP, Fisher A, Parker L, Burn J, Tawn EJ. Individual variation in somatic mutations of the glycophorin-A gene in neonates in relation to pre-natal factors. Mutation Research - Genetic Toxicology and Environmental Mutagenesis 2000, 467(2), 153-159.
• Takahashi M, Rapley E, Biggs PJ, Lakhani SR, Cooke D, Hansen J, Blair E, Hofmann B, Siebert R, Turner G, Evans DG, Schrander-Stumpel C, Beemer FA, Van Vloten WA, Breuning MH, Van Den Ouweland A, Halley D, Delpech B, Cleveland M, Leigh I, Chapman P, Burn J, Hohl D, Gorog J-P, Seal S, Mangion J, Warren W, Bignell G, Stratton MR. Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13. Human Genetics 2000, 106(1), 58-65.
• Satoda M, Zhao F, Diaz GA, Burn J, Goodship J, Davidson HR, Pierpont MEM, Gelb BD. Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus. Nature Genetics 2000, 25(1), 42-46.
• Vigen T, Haites N, Burn J, Moller P, Steel M. Patenting genes: a dangerous EU directive. British Journal of General Practice 2000, 50(453), 337.
• Fairgrieve SD, Jackson M, Jonas P, Walshaw D, White K, Montgomery TL, Burn J, Lynch SA. Population based, prospective study of the care of women with epilepsy in pregnancy. British Medical Journal 2000, 321(7262), 674-675.
• Goodship JA, Burn J. UFD1L is not the monogenic basis for heart defects-associated with the CATCH phenotype [4]. Molecular Medicine Today 2000, 6(1), 14.
• Wonderling D, Hopwood P, Cull A, Douglas F, Watson M, Burn J, McPherson K. UK cancer genetics services - the response to a new need. In: JOURNAL OF MEDICAL GENETICS. 2000.
• Berney TP, Ireland M, Burn J. Behavioural phenotype of Cornelia de Lange syndrome. Archives of Disease in Childhood 1999, 81(4), 333-336.
• Burn J. Closing time for CATCH22. Journal of Medical Genetics 1999, 36(10), 737-738.
• Burn J, Chapman PD, Mathers J, Bishop DT. Concerted action polyp prevention: A trial of aspirin and or resistant starch in people at risk of hereditary colon cancer. In: Utsunomiya, J; Mulvihill, JJ; Weber, W, ed. Familial Cancer and Prevention: Molecular Epidemiology - A New Strategy Toward Cancer Control: UICC Symposium on Familial Cancer and Prevention. Kobe, Japan: Wiley-Liss, Inc, 1999, pp.279-284.
• Kartheuser A, Walon C, West S, Breukel C, Detry R, Gribomont AC, Hamzehloei T, Hoang P, Maiter D, Pringot J, Rahier J, Khan PM, Curtis A, Burn J, Fodde R, Verellen-Dumoulin C. Familial adenomatous polyposis associated with multiple adrenal adenomas in a patient with a rare 3' APC mutation. Journal of Medical Genetics 1999, 36(1), 65-67.
• Liling J, Cross I, Burn J, Daniel CP, Tawn EJ, Parker L. Frequency and predictive value of 22q11 deletion. Journal of Medical Genetics 1999, 36(10), 794-795.
• Chapman PD, Burn J. Genetic predictive testing for bowel cancer predisposition: The impact on the individual. Cytogenetics and Cell Genetics 1999, 86(2), 118-124.
• Almeida M, Coaker J, Gunn A, Bradburn M, Curtis A, Burn J, Mathers JC, West SP. Hereditary nonpolyposis colorectal cancer (HNPCC) amongst patients with apparently sporadic colorectal cancer. In: Journal of Medical Genetics. 1999, BMJ Group.
• Williamson SLH, Kartheuser A, Coaker J, Kooshkghazi MD, Fodde R, Burn J, Mathers JC. Intestinal tumorigenesis in the Apc1638N mouse treated with aspirin and resistant starch for up to 5 months. Carcinogenesis 1999, 20(5), 805-810.
• Almelda M, Fidalgo P, Wijnen J, Fodde R, Burn J, Curtis A, West SP. Mutation detection strategy in hereditary nonpolyposis colon cancer families. In: Journal of Medical Genetics. 1999, BMJ Group.
• Mathers JC, Nutr D, Burn J. Nutrition in cancer prevention. Current Opinion in Oncology 1999, 11(5), 402-407.
• Chu C, Sheridan E, Turner G, Robson F, Mason G, Thornton J, Burn J. Prenatal testing for cancer predisposition syndromes. Journal of Medical Genetics 1999, 36, S35-S35.
• Arthur HM, Wilson DI, Torsney E, Renforth G, Diamond AG, Burn J. Progress towards developing a mouse model of Hereditary Haemorrhagic Telangiectasia. In: American Journal of Human Genetics. 1999, Cell Press.
• Denison CK, Barnes R, Gibson B, Hunt A, Hart I, Steel M, Casismir C, Liu D, Nevin NC, Anionwu E, Burn J, Dayan A, Denison K, Johnston P, Marteau T, Neil J, Pinching A, Platt E, Richards B, Steel CM, Train I. Regulatory Issues Gene Therapy Advisory Committee Report on the Potential Use of Gene Therapy in Utero. Human Gene Therapy 1999, 10(4), 689-692.
• Aitken DA, Ireland M, Berry E, Crossley JA, Macri JN, Burn J, Connor JM. Second-trimester pregnancy associated plasma protein-A levels are reduced in Cornelia de Lange syndrome pregnancies. Prenatal Diagnosis 1999, 19(8), 706-710.
• Ryan A, Burn J, Court S, Jackson T, Smith JC, Barwick D. Two brothers with varying combinations of severe developmental delay, epilepsy, microcephaly, tetralogy of Fallot and hydronephrosis. Clinical Dysmorphology 1999, 8(1), 15-18.
• S. J. Mills, J. C. Mathers, P. D. Chapman, J. Burn and A. Gunn. Aspirin, sulindac and the rectum in familial adenomatous polyposis. British Journal of Surgery 1998, 85, 55-56.
• Mills SJ, Mathers JC, Chapman PD, Burn J, Gunn A. Aspirin, sulindac and the rectum in familial adenomatous polyposis. In: BRITISH JOURNAL OF SURGERY. 1998.
• Douglas F. and Burn J. Cancer genetics: a summary. Cleveland Medical Journal 1998, 1998, 4-5.
• S. E. Green, P. Chapman, J. Burn, A. D. Burt, M. Bennett, D. R. Appleton, J. S. Varma and J. C. Mathers. Colonic epithelial cell proliferation in hereditary non- polyposis colorectal cancer. Gut 1998, 43, 85-92.
• Green SE, Chapman P, Burn J, Burt AD, Bennett M, Appleton DR, Varma JS, Mathers JC. Colonic epithelial cell proliferation in hereditary non-polyposis colorectal cancer. Gut 1998, 43(1), 85-92.
• Green SE, Chapman P, Burn J, Burt AD, Bennett M, Appleton DR, Varma JS, Mathers JC. Colonic epithelial cell proliferation in hereditary non-polyposis colorectal cancer. GUT 1998, 43(1), 85-92.
• S. J. Mills, J. C. Mathers, P. D. Chapman, J. Burn and A. Gunn. Crypt cell proliferation state in the human colon. Validation of results obtained by whole crypt microdissection and the findings in patients with familial adenomatous polyposis, sporadic adenomas and colorectal cancer. British Journal of Surgery 1998, 85, 84-84.
• J. Burn, P. D. Chapman, D. T. Bishop and J. Mathers. Diet and cancer prevention: the Concerted Action Polyp Prevention (CAPP) Studies. Proceedings of the Nutrition Society 1998, 57, 183-186.
• J. M. Varley, P. Chapman, G. McGown, M. Thorncroft, G. R. M. White, M. J. Greaves, D. Scott, A. Spreadborough, K. J. Tricker, J. M. Birch, D. G. R. Evans, R. Reddel, R. S. Camplejohn, J. Burn and J. M. Boyle. Genetic and functional studies of a germline TP53 splicing mutation in a Li-Fraumeni-like family. Oncogene 1998, 16, 3291-3298.
• S. E. Green, D. M. Bradburn, J. S. Varma and J. Burn. Hereditary non-polyposis colorectal cancer. International Journal of Colorectal Disease 1998, 13, 3-12.
• Green SE, Bradburn DM, Varma JS, Burn J. Hereditary non-polyposis colorectal cancer. International Journal of Colorectal Disease 1998, 13(1), 3-12.
• Green SE, Bradburn DM, Varma JS, Burn J. Hereditary non-polyposis colorectal cancer. INTERNATIONAL JOURNAL OF COLORECTAL DISEASE 1998, 13(1), 3-12.
• D. G. R. Evans, J. Hill, T. Dudding, J. Burn and E. R. Maher. Molecular genetic tests in surgical management of familial adenomatous polyposis - reply. Lancet 1998, 351, 1131-1132.
• J. Burn, P. Brennan, J. Little, S. Holloway, R. Coffey, J. Somerville, N. R. Dennis, L. Allan, R. Arnold, J. E. Deanfield, M. Godman, A. Houston, B. Keeton, C. Oakley, O. Scott, E. Silove, J. Wilkinson, M. Pembrey and A. S. Hunter. Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study. Lancet 1998, 351, 311-316.
• A. K. Ryan, K. Bartlett, P. Clayton, S. Eaton, L. Mills, D. Donnai, R. M. Winter and J. Burn. Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. Journal of Medical Genetics 1998, 35, 558-565.
• K. Morrison, C. Papapetrou, F. A. Hol, E. C. M. Mariman, S. A. Lynch, J. Burn and Y. H. Edwards. Susceptibility to spina bifida; an association study of five candidate genes. Annals of Human Genetics 1998, 62, 379-396.
• D. S. Chase, E. J. Tawn, L. Parker, P. Jonas, C. O. Parker and J. Burn. The North Cumbria Community Genetics Project. Journal of Medical Genetics 1998, 35, 413-416.
• M. P. Splitt, M. Y. Tsai, J. Burn and J. A. Goodship. Absence of mutations in the regulatory domain of the gap junction protein connexin 43 in patients with visceroatrial heterotaxy. Heart 1997, 77, 369-370.
• S. A. Lynch, D. GardnerMedwin, J. Burn and K. M. D. Bushby. Absent nails, kinesogenic choreoathetosis, epilepsy and developmental delay - A new autosomal dominant disorder?. Clinical Dysmorphology 1997, 6, 133-138.
• M. G. Dunlop, S. M. Farrington, A. D. Carothers, A. H. Wyllie, L. Sharp, J. Burn, B. Liu, K. W. Kinzler and B. Vogelstein. Cancer risk associated with germline DNA mismatch repair gene mutations. Human Molecular Genetics 1997, 6, 105-110.
• J. Burn, P. D. Chapman, J. Mathers, D. T. Bishop and H. Lynch. CAPP2: An international controlled trial of aspirin and resistant starch in carriers of HNPCC. Journal of Medical Genetics 1997, 34, 518-518.
• Fairgrieve S., Magnay D., White I. and Burn J. Case report. Maternal serum screening: a team approach. British Journal of Midwifery 1997, 5, 152-153.
• Burn J. and Chapman P.D. Colon cancers: genes or environment?. Nutrition Abstracts and Reviews, Series A: Human and Experimental 1997, 67, 787-784.
• M. P. Splitt, J. Burn and J. A. Goodship. Determination of left-right asymmetry. Journal of Medical Genetics 1997, 34, SP28-SP28.
• S. J. Mills, P. D. Chapman, J. Burn and A. Gunn. Endoscopic screening and surgery for familial adenomatous polyposis: Dangerous delays. British Journal of Surgery 1997, 84, 74-77.
• S. A. Lynch and J. Burn. Genetic counselling in families with hereditary sacral agenesis. Journal of Medical Genetics 1997, 34, SP16-SP16.
• S. Lindsay, M. Ireland, O. Obrien, J. ClaytonSmith, J. A. Hurst, J. Mann, T. Cole, J. Sampson, S. Slaney, D. Schlessinger, J. Burn and G. Pilia. Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome. Journal of Medical Genetics 1997, 34, 480-483.
• Chinnery PF, Cartlidge N, Burn DJ, Cleland PG, McKeith I. Management of parkinsonism and psychotic depression in a case of acute intermittent porphyria. Journal of Neurology, Neurosurgery and Psychiatry 1997, 62(5), 542-542.
• S. Fairgrieve, D. Magnay, I. White and J. Burn. Maternal serum screening for Down's syndrome: a survey of midwives' views. Public Health 1997, 111, 383-385.
• K. Morrison, Y. H. Edwards, S. A. Lynch, J. Burn, F. Hol and E. Mariman. Methionine synthase and neural tube defects. Journal of Medical Genetics 1997, 34, 958-958.
• D. G. R. Evans, J. Hill, T. Dudding, J. Burn and E. R. Maher. Molecular genetic tests in surgical management of familial adenomatous polyposis. Lancet 1997, 350, 1777-1777.
• P. Jonas, D. S. Chase, C. Parker, E. J. Tawn, L. Parker and J. Burn. Setting up a DNA bank: Practical issues. Journal of Medical Genetics 1997, 34, 707-707.
• B. Casey, M. Gebbia, G. B. Ferrero, G. Pilia, M. Yamada, A. S. Aylsworth, M. Penman-Splitt, L. M. Bird, J. S. Bamforth, J. Burn, D. Schlessinger and D. L. Nelson. Sites inversus, heart defects, and other manifestations of X- linked heterotaxy caused by mutations in the zinc-finger transcription factor ZIC3. American Journal of Human Genetics 1997, 61, 90.
• Casey B, Gebbia M, Ferrero GB, Pilia G, Yamada M, Aylsworth AS, Penman-Splitt M, Bird LM, Bamforth JS, Burn J, Schlessinger D, Nelson DL. Sites inversus, heart defects, and other manifestations of X-linked heterotaxy caused by mutations in the zinc-finger transcription factor ZIC3. In: AMERICAN JOURNAL OF HUMAN GENETICS. 1997.
• A. K. Ryan, K. Barlett, P. Clayton, S. Eaton, K. Mills, J. Collins, D. Donnai, R. Winter and J. Burn. Smith Lemli Opitz syndrome: a variable phenotype caused by 7 dehydro cholesterol reductase deficiency. Journal of Medical Genetics 1997, 34, SP39-SP39.
• A. K. Ryan, K. Bartlett, P. Clayton, S. Eaton, K. Mills, J. Collins, D. Donnai, R. Winter and J. Burn. Smith-Lemli-Opitz syndrome: A variable phenotype caused by 7 dehydro cholesterol reductase deficiency. American Journal of Human Genetics 1997, 61, 10.
• Wyllie J.P., Madar R.J., Wright M. and Burn J. Strategies for antenatal detection of Down's syndrome. Arch Dis Child 1997, 76, F26-F30.
• Fisk N.M. and Burn J. Terathanasia, folic acid and birth defects (letter). Lancet 1997, 350, 1322-1323.
• J. Burn and N. M. Fisk. Terathanasia, folic acid, and birth defects. Lancet 1997, 350, 1322-1323.
• P. Brennan, S. Holloway, J. Little and J. Burn. Tetralogy of Fallot: a triad of susceptibility genes?. Journal of Medical Genetics 1997, 34, 701-701.
• J. Burn, J. Camm, M. J. Davies, L. Peltonen, P. J. Schwartz and H. Watkins. The phenotype/genotype relation and the current status of genetic screening in hypertrophic cardiomyopathy, Marfan syndrome, and the long QT syndrome. Heart 1997, 78, 110-116.
• M. Gebbia, G. B. Ferrero, G. Pilia, M. T. Bassi, A. S. Aylsworth, M. PenmanSplitt, L. M. Bird, J. S. Bamforth, J. Burn, D. Schlessinger, D. L. Nelson and B. Casey. X-linked situs abnormalities result from mutations in ZIC3. Nature Genetics 1997, 17, 305-308.
• Gebbia M, Ferrero GB, Pilia G, Bassi MT, Aylsworth AS, Penman-Splitt M, Bird LM, Bamforth JS, Burn J, Schlessinger D, Nelson DL, Casey B. X-linked situs abnormalities result from mutations in ZIC3. Nature Genetics 1997, 17(3), 305-308.
• Gebbia M, Ferrero GB, Pilia G, Bassi MT, Aylsworth AS, PenmanSplitt M, Bird LM, Bamforth JS, Burn J, Schlessinger D, Nelson DL, Casey B. X-linked situs abnormalities result from mutations in ZIC3. NATURE GENETICS 1997, 17(3), 305-308.
• J. Burn, S. Fairgrieve, P. Franks, I. White and D. Magnay. Audit of maternal serum screening: Strategies to augment counselling in response to women's views. European Journal of Human Genetics 1996, 4, 108-112.
• P. Baxter, S. Connolly, A. Curtis, V. Spencer, C. Ravindranath, J. Burn and D. GardnerMedwin. Co-dominant inheritance of hyperekplexia and spastic paraparesis. Developmental Medicine and Child Neurology 1996, 38, 739-743.
• M. P. Splitt, J. Burn and J. Goodship. Defects in the determination of left-right asymmetry. Journal of Medical Genetics 1996, 33, 498-503.
• J. Burn and J. Goodship. Developmental genetics of the heart. Current Opinion in Genetics & Development 1996, 6, 322-325.
• D. McHale, M. E. M. Porteous, J. Wentzel and J. Burn. Further evidence of genetic heterogeneity in hereditary hydronephrosis. Clinical Genetics 1996, 50, 491-493.
• K. Morrison, C. Papapetrou, J. Attwood, F. Hol, S. A. Lynch, A. Sampath, B. Hamel, J. Burn, J. Sowden, D. Stott, E. Mariman and Y. H. Edwards. Genetic mapping of the human homologue (T) of mouse T(Brachyury) and a search for allele association between human T and spina bifida. Human Molecular Genetics 1996, 5, 669-674.
• D. M. Eccles, R. vanderLuijt, C. Breukel, H. Bullman, D. Bunyan, A. Fisher, J. Barber, C. duBoulay, J. Primrose, J. Burn and R. Fodde. Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene. American Journal of Human Genetics 1996, 59, 1193-1201.
• C. Papapetrou, S. A. Lynch, J. Burn and Y. H. Edwards. Methylenetetrahydrofolate reductase and neural tube defects. Lancet 1996, 348, 58-58.
• T. Hamzehloei, S. P. West, P. Chapman, J. Burn and N. Curtis. Mutation detection in exons 1-14 of the adenomatous polyposis coli gene: Identification of an alternatively spliced transcript. Molecular and Cellular Probes 1996, 10, 379-385.
• N. D. Embleton, J. P. Wyllie, M. J. Wright, J. Burn and S. Hunter. Natural history of trisomy 18. Archives of Disease in Childhood 1996, 75, F38-F41.
• S. Lindsay, M. Splitt, S. Edney, T. P. Berney, S. J. L. Knight, K. E. Davies, O. Obrien, M. Gale and J. Burn. PPM-X: A new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28. American Journal of Human Genetics 1996, 58, 1120-1126.
• S. Chatkupt, T. Lehner, Q. Li, R. Sun, K. Tolba, S. Chaudhari, C. V. Torigian, E. S. Stenroos, M. Thomas, T. Strachan, J. Burn and W. G. Johnson. Sacral defect families with wide phenotypic variation map to the same chromosomal region. Neurology 1996, 46, 2006-2006.
• P. J. Biggs, P. Chapman, S. R. Lakhani, J. Burn and M. R. Stratton. The cylindromatosis gene (cyld1) on chromosome 16q may be the only tumour suppressor gene involved in the development of cylindromas. Oncogene 1996, 12, 1375-1377.
• J. Goodship, J. Carter and J. Burn. X-inactivation patterns in monozygotic and dizygotic female twins. American Journal of Medical Genetics 1996, 61, 205-208.
• GREEN SE, CHAPMAN PD, BURN J, BISHOP DT, VARMA JS. CLINICAL IMPACT OF COLONOSCOPIC SCREENING IN FIRST-DEGREE RELATIVES OF PATIENTS WITH HEREDITARY NONPOLYPOSIS COLORECTAL-CANCER. BRITISH JOURNAL OF SURGERY 1995, 82(10), 1338-1340.
• Burn J, Strachan T. Human embryo use in developmental research. NATURE GENETICS, 1995, Vol.11, No.1, pp.3-6<br>(Letter) 1995.
• Wright MJ, Newell JN, Charlton ME, Hey EN, Donaldson LJ, Burn J. Limb reduction defects in the northern region of England 1985-92. Journal of Epidemiology & Community Health 1995, 49(3), 305-308.
• Porteous ME, Curtis A, Williams O, Marchuk D, Bhattacharya SS & Burn J. Genetic heterogeneity in hereditary haemorrhagic telangiectasia. J Med Genet 31: 925-926 1993.
• Porteous MEM, Burn J, Proctor SJ. Hereditary haemorrhagic telangiectasia: a clinical analysis. Journal of Medical Genetics 1992, 29(8), 527-530.
• Ireland M, English C, Cross I, Houlsby WT, Burn J. A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome. JOURNAL OF MEDICAL GENETICS, 1991, Vol.28, No.9, pp.639-40<br>(Article) 1991.
• Wilson DI, Cross IE, Goodship JA, Coulthard S, Carey AH, Scambler PJ, Bain HH, Hunter AS, Carter PE, Burn J. DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin. British Heart Journal 1991, 66(4), 308-312.
• CLARKE AJ, BURN J. MODERN GENETICS AND NEUROMUSCULAR DISORDERS. LANCET 1987, 1(8533), 626-626.
• BURN J, GIBBENS D. MAY SPINA-BIFIDA RESULT FROM AN X-LINKED DEFECT IN A SELECTIVE ABORTION MECHANISM. JOURNAL OF MEDICAL GENETICS 1979, 16(3), 210-214.
• BURN J, GIBBONS D. MAY SPINA-BIFIDA RESULT FROM AN X-LINKED DEFECT IN A SELECTIVE ABORTION MECHANISM. In: HEREDITY. 1978.