Staff Profile

Professor of Clinical Genetics, Newcastle University 1991-

Consultant Clinical Geneticist, Northern Genetics Service 1984-1996, Honorary from 96-2017 and 2023-

Chairman, Newcastle Hospitals NHS Foundation Trust 2017 - 2023

Knighted for services to Medicine and Healthcare in 2010

Chief Investigator of the International Cancer Prevention Programme (CAPP)

Co-Chair of the International Scientific Advisory Committee to the Human Variome Project and Executive Chairman/ Director/ Company Board Member of the non-for profit holding company, Global Variome Ltd (Newcastle, UK). HVP/GV is a recognised NGO of UNESCO.

Co-chair to the BRCA Challenge of the Global Alliance for Genomics and Health (GA4GH)

Vice President, Human Genome Organisation. Trustee HUGO London

Member to Genomics England Scientific Advisory Committee, Bowel Cancer UK Scientific Advisory Committee Committee. Trustee and board member, European Hereditary Tumour Group.

Chairman of QuantuMDx Group Ltd - http://partners.wsj.com/dit/trading-stories/transforming-global-health-diagnostics/ 

Patron charity Veterans at Ease.

PA: Karen Ritchie

Karen.Ritchie@ncl.ac.uk or 0191 241 8794

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. I am Chief Investigator of the CaPP3 trial, a dose non-inferiority study to determine the optimal dose of aspirin for cancer chemoprevention in Lynch Syndrome, will reach last Patient Last Visit in June 2024. 1879 carriers of Lynch Syndrome have been randomised in the UK, Finland, Spain, Israel and Australia. CAPP2 also demonstrated a major reduction of non-colorectal cancers in those randomised to resistant starch (high fibre) supplements.

Our Cancer Prevention Group has developed a patented multiplex PCR assay, the Newcastle MSI-Plus Assay, which is being deployed to screen colorectal and other tumours for evidence of sporadic or germline MisMatch Repair deficiency, the underlying molecular basis of Lynch syndrome and a target for Immune Checkpoint Inhibitors. We have shown the assay to be able to detect Microsatellite Instability in cell free DNA from urine of people with Lynch syndrome who have a urinary tract cancer.

• Articles

  • Huntley C, Loong L, Mallinson C, Bethell R, Rahman T, Alhaddad N, Tulloch O, Zhou X, Lee J, Eves P, Cook J, Armstrong R, Ahmed M, McVeigh T, DeSouza B, Kulkarni A, Bezuidenhout H, Martin R, Holliday D, Hart R, Lalloo F, Donaldson A, Cleaver R, Willis C, Kiesel V, O'Reilly M-A, Halliday D, Solomons J, Ong KR, McRonald F, Torr B, Burn J, Shaw A, Morris EJA, Monahan K, Hardy S, Turnbull C. The comprehensive English National Lynch Syndrome Registry: development and description of a new genomics data resource. eClinicalMedicine 2024, 69, 102465.
  • Lincoln AG, Benton SC, Piggott C, Sheikh SR, Beggs AD, Buckley L, Desouza B, East JE, Sanders P, Lim M, Sheehan D, Snape K, Hanson H, Greenaway JR, Burn J, Nylander D, Hawkins M, Lalloo F, Green K, Lee TJ, Walker J, Matthews G, Rutherford T, Sasieni P, Monahan KJ. Risk-stratified faecal immunochemical testing (FIT) for urgent colonoscopy in Lynch syndrome during the COVID-19 pandemic. BJS Open 2023, 7(5), zrad079.
  • Rasmussen M, Sowter P, Gallon R, Durhuus JA, Hayes C, Andersen O, Nilbert M, Schejbel L, Hogdall E, Santibanez-Koref M, Jackson MS, Burn J, Therkildsen C. Mismatch repair deficiency testing in Lynch syndrome-associated urothelial tumors. Frontiers in Oncology 2023, 13, 1147591.
  • Gallon R, Phelps R, Hayes C, Brugieres L, Guerrini-Rousseau L, Colas C, Muleris M, Ryan NAJ, Evans DG, Grice H, Jessop E, Kunzemann-Martinez A, Marshall L, Schamschula E, Oberhuber K, Azizi AA, Baris Feldman H, Beilken A, Brauer N, Brozou N, Dahan K, Demirsoy U, Florkin B, Foulkes W, Januszkiewicz-Lewandowska D, Jones KJ, Kratz CP, Lobitz S, Meade J, Nathrath M, Pander HJ, Perne C, Ragab I, Ripperger T, Rosenbaum T, Rueda D, Sarosiek T, Sehested A, Spier I, Suerink M, Zimmermann SY, Zschocke J, Borthwick GM, Wimmer K, Burn J, Jackson MS, Santibanez-Koref M. Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency. Gastroenterology 2023, 164(4), 579-592.e8.
  • Bohaumilitzky L, Kluck K, Huneburg R, Gallon R, Nattermann J, Kirchner M, Kristiansen G, Hommerding O, Pfuderer PL, Wagner L, Echterdiek F, Kosegi S, Muller N, Fischer K, Nelius N, Hartog B, Borthwick G, Busch E, Haag GM, Blaker H, Moslein G, von Knebel Doeberitz M, Seppala TT, Ahtiainen M, Mecklin J-P, Bishop DT, Burn J, Stenzinger A, Budczies J, Kloor M, Ahadova A. The Different Immune Profiles of Normal Colonic Mucosa in Cancer-Free Lynch Syndrome Carriers and Lynch Syndrome Colorectal Cancer Patients. Gastroenterology 2022, 162(3), 907-919.e10.
  • Phelps R, Gallon R, Hayes C, Glover E, Gibson P, Edidi I, Lee T, Mills S, Shaw A, Heer R, Ralte A, McAnulty C, Santibanez-Koref M, Burn J, Jackson MS. Detection of Microsatellite Instability in Colonoscopic Biopsies and Postal Urine Samples from Lynch Syndrome Cancer Patients Using a Multiplex PCR Assay. Cancers 2022, 14(15), 3838.
  • Moller P, Seppala T, Dowty JG, Haupt S, Dominguez-Valentin M, Sunde L, Bernstein I, Engel C, Aretz S, Nielsen M, Capella G, Evans DG, Burn J, Holinski-Feder E, Bertario L, Bonanni B, Lindblom A, Levi Z, Macrae F, Winship I, Plazzer J-P, Sijmons R, Laghi L, Valle AD, Heinimann K, Half E, Lopez-Koestner F, Alvarez-Valenzuela K, Scott RJ, Katz L, Laish I, Vainer E, Vaccaro CA, Carraro DM, Gluck N, Abu-Freha N, Stakelum A, Kennelly R, Winter D, Rossi BM, Greenblatt M, Bohorquez M, Sheth H, Tibiletti MG, Lino-Silva LS, Horisberger K, Portenkirchner C, Nascimento I, Rossi NT, da Silva LA, Thomas H, Zarand A, Mecklin J-P, Pylvanainen K, Renkonen-Sinisalo L, Lepisto A, Peltomaki P, Therkildsen C, Lindberg LJ, Thorlacius-Ussing O, von Knebel Doeberitz M, Loeffler M, Rahner N, Steinke-Lange V, Schmiegel W, Vangala D, Perne C, Huneburg R, de Vargas AF, Latchford A, Gerdes A-M, Backman A-S, Guillen-Ponce C, Snyder C, Lautrup CK, Amor D, Palmero E, Stoffel E, Duijkers F, Hall MJ, Hampel H, Williams H, Okkels H, Lubinski J, Reece J, Ngeow J, Guillem JG, Arnold J, Wadt K, Monahan K, Senter L, Rasmussen LJ, van Hest LP, Ricciardiello L, Kohonen-Corish MRJ, Ligtenberg MJL, Southey M, Aronson M, Zahary MN, Samadder NJ, Poplawski N, Hoogerbrugge N, Morrison PJ, James P, Lee G, Chen-Shtoyerman R, Ankathil R, Pai R, Ward R, Parry S, Debniak T, John T, van Overeem Hansen T, Caldes T, Yamaguchi T, Barca-Tierno V, Garre P, Cavestro GM, Weitz J, Redler S, Buttner R, Heuveline V, Hopper JL, Win AK, Lindor N, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo J, Buchanan DD, Thibodeau SN, ten Broeke SW, Hovig E, Nakken S, Pineda M, Duenas N, Brunet J, Green K, Lalloo F, Newton K, Crosbie EJ, Mints M, Tjandra D, Neffa F, Esperon P, Kariv R, Rosner G, Pavicic WH, Kalfayan P, Torrezan GT, Bassaneze T, Martin C, Moslein G, Ahadova A, Kloor M, Sampson JR, Jenkins MA. Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium. Hereditary Cancer in Clinical Practice 2022, 20(1), 36.
  • Mathers JC, Elliott F, Macrae F, Mecklin J-P, Moslein G, McRonald FE, Bertario L, Evans DG, Gerdes A-M, Ho JWC, Lindblom A, Morrison PJ, Rashbass J, Ramesar RS, Seppala TT, Thomas HJW, Sheth HJ, Pylvanainen K, Reed L, Borthwick GM, Bishop DT, Burn J. Cancer Prevention with Resistant Starch in Lynch Syndrome Patients in the CAPP2-Randomized Placebo Controlled Trial: Planned 10-Year Follow-up. Cancer Prevention Research 2022, 15(9), 623-634.
  • Martin HC, Gardner EJ, Samocha KE, Kaplanis J, Akawi N, Sifrim A, Eberhardt RY, Tavares ALT, Neville MDC, Niemi MEK, Gallone G, McRae J, Borras S, Clark C, Dean J, Miedzybrodzka Z, Ross A, Tennant S, Dabir T, Donnelly D, Humphreys M, Magee A, McConnell V, McKee S, McNerlan S, Morrison PJ, Rea G, Stewart F, Cole T, Cooper N, Cooper-Charles L, Cox H, Islam L, Jarvis J, Keelagher R, Lim D, McMullan D, Morton J, Naik S, O'Driscoll M, Ong K-R, Osio D, Ragge N, Turton S, Vogt J, Williams D, Bodek S, Donaldson A, Hills A, Low K, Newbury-Ecob R, Norman AM, Roberts E, Scurr I, Smithson S, Tooley M, Abbs S, Armstrong R, Dunn C, Holden S, Park S-M, Paterson J, Raymond L, Reid E, Sandford R, Simonic I, Tischkowitz M, Woods G, Bradley L, Comerford J, Green A, Lynch S, McQuaid S, Mullaney B, Berg J, Goudie D, Mavrak E, McLean J, McWilliam C, Reavey E, Azam T, Cleary E, Jackson A, Lam W, Lampe A, Moore D, Porteous M, Baple E, Baptista J, Brewer C, Castle B, Kivuva E, Owens M, Rankin J, Shaw-Smith C, Turner C, Turnpenny P, Tysoe C, Bradley T, Davidson R, Gardiner C, Joss S, Kinning E, Longman C, McGowan R, Murday V, Pilz D, Tobias E, Whiteford M, Williams N, Barnicoat A, Clement E, Faravelli F, Hurst J, Jenkins L, Jones W, Kumar VKA, Lees M, Loughlin S, Male A, Morrogh D, Rosser E, Scott R, Wilson L, Beleza A, Deshpande C, Flinter F, Holder M, Irving M, Izatt L, Josifova D, Mohammed S, Molenda A, Robert L, Roworth W, Ruddy D, Ryten M, Yau S, Bennett C, Blyth M, Campbell J, Coates A, Dobbie A, Hewitt S, Hobson E, Jackson E, Jewell R, Kraus A, Prescott K, Sheridan E, Thomson J, Bradshaw K, Dixit A, Eason J, Haines R, Harrison R, Mutch S, Sarkar A, Searle C, Shannon N, Sharif A, Suri M, Vasudevan P, Canham N, Ellis I, Greenhalgh L, Howard E, Stinton V, Swale A, Weber A, Banka S, Breen C, Briggs T, Burkitt-Wright E, Chandler K, Clayton-Smith J, Donnai D, Douzgou S, Gaunt L, Jones E, Kerr B, Langley C, Metcalfe K, Smith A, Wright R, Bourn D, Burn J, Fisher R, Hellens S, Henderson A, Montgomery T, Splitt M, Straub V, Wright M, Zwolinski S, Allen Z, Bernhard B, Brady A, Brooks C, Busby L, Clowes V, Ghali N, Holder S, Ibitoye R, Wakeling E, Blair E, Carmichael J, Cilliers D, Clasper S, Gibbons R, Kini U, Lester T, Nemeth A, Poulton J, Price S, Shears D, Stewart H, Wilkie A, Albaba S, Baker D, Balasubramanian M, Johnson D, Parker M, Quarrell O, Stewart A, Willoughby J, Crosby C, Elmslie F, Homfray T, Jin H, Lahiri N, Mansour S, Marks K, McEntagart M, Saggar A, Tatton-Brown K, Butler R, Clarke A, Corrin S, Fry A, Kamath A, McCann E, Mugalaasi H, Pottinger C, Procter A, Sampson J, Sansbury F, Varghese V, Baralle D, Callaway A, Cassidy EJ, Daniels S, Douglas A, Foulds N, Hunt D, Kharbanda M, Lachlan K, Mercer C, Side L, Temple IK, Wellesley D, Wright CF, FitzPatrick DR, Firth HV, Hurles ME. The contribution of X-linked coding variation to severe developmental disorders. Nature Communications 2021, 12(1), 627.
  • Gallon R, Kibbi N, Cook S, Santibanez-Koref M, Jackson MS, Burn J, Rajan N. Sebaceous tumours: a prototypical class of skin tumour for universal germline genetic testing. British Journal of Dermatology 2021, 185(5), 1045-1046.
  • Dominguez-Valentin M, Plazzer J-P, Sampson JR, Engel C, Aretz S, Jenkins MA, Sunde L, Bernstein I, Capella G, Balaguer F, Macrae F, Winship IM, Thomas H, Evans DG, Burn J, Greenblatt M, de Vos tot Nederveen Cappel WH, Sijmons RH, Nielsen M, Bertario L, Bonanni B, Tibiletti MG, Cavestro GM, Lindblom A, Della Valle A, Lopez-Kostner F, Alvarez K, Gluck N, Katz L, Heinimann K, Vaccaro CA, Nakken S, Hovig E, Green K, Lalloo F, Hill J, Vasen HFA, Perne C, Buttner R, Gorgens H, Holinski-Feder E, Morak M, Holzapfel S, Huneburg R, Doeberitz MVK, Loeffler M, Rahner N, Weitz J, Steinke-Lange V, Schmiegel W, Vangala D, Crosbie EJ, Pineda M, Navarro M, Brunet J, Moreira L, Sanchez A, Serra-Burriel M, Mints M, Kariv R, Rosner G, Pinero TA, Pavicic WH, Kalfayan P, Ten Broeke SW, Mecklin J-P, Pylvanainen K, Renkonen-Sinisalo L, Lepisto A, Peltomaki P, Hopper JL, Win AK, Buchanan DD, Lindor NM, Gallinger S, Marchand LL, Newcomb PA, Figueiredo JC, Thibodeau SN, Therkildsen C, Hansen TVO, Lindberg L, Rodland EA, Neffa F, Esperon P, Tjandra D, Moslein G, Seppala TT, Moller P. No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in mlh1 and msh2: A prospective lynch syndrome database study. Journal of Clinical Medicine 2021, 10(13), 2856.
  • Kurzawa-Akanbi M, Keogh M, Tsefou E, Ramsay L, Johnson M, Keers S, Ochieng LW, McNair A, Singh P, Khan A, Pyle A, Hudson G, Ince PG, Attems J, Burn J, Chinnery PF, Morris CM. Neuropathological and Biochemical Investigation of Hereditary Ferritinopathycases with Ferritin Light Chain Mutation: Prominent Protein Aggregation in the Absence of Major Mitochondrial or Oxidative Stress. Neuropathology and Applied Neurobiology 2021, 47(1), 26-42.
  • Turro E, Astle WJ, Graf S, Greene D, Allen HL, Frontini M, Stephens J, Downes K, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Caulfield MJ, Chinnery PF, Dixon PH, James R, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Tan RYY, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Abbs S, Abulhoul L, Adlard J, Ahmed M, Aitman TJ, Alachkar H, Allsup DJ, Almeida-King J, Ancliff P, Antrobus R, Armstrong R, Arno G, Ashford S, Astle WJ, Attwood A, Aurora P, Babbs C, Bacchelli C, Bakchoul T, Banka S, Bariana T, Barwell J, Batista J, Baxendale HE, Beales PL, Bennett DL, Bentley DR, Bentley DR, Bierzynska A, Biss T, Bitner-Glindzicz MAK, Black GC, Bleda M, Blesneac I, Bockenhauer D, Bogaard H, Bourne CJ, Boyce S, Bradley JR, Bragin E, Breen G, Brennan P, Brewer C, Brown M, Browning AC, Browning MJ, Buchan RJ, Buckland MS, Bueser T, Diz CB, Burn J, Burns SO, Burren OS, Burren OS, Burrows N, Calleja P, Campbell C, Carr-White G, Carss K, Carss K, Casey R, Caulfield MJ, Chambers J, Chambers J, Chan MMY, Cheah C, Cheng F, Chinnery PF, Chitre M, Christian MT, Church C, Clayton-Smith J, Cleary M, Brod NC, Coghlan G, Colby E, Cole TRP, Collins J, Collins PW, Colombo C, Compton CJ, Condliffe R, Cook S, Cook HT, Cooper N, Corris PA, Furnell A, Cunningham F, Curry NS, Cutler AJ, Daniels MJ, Dattani M, Daugherty LC, Davis J, De Soyza A, Deevi SVV, Dent T, Deshpande C, Dewhurst EF, Dixon PH, Douzgou S, Downes K, Drazyk AM, Drewe E, Duarte D, Dutt T, Edgar JDM, Edwards K, Egner W, Ekani MN, Elliott P, Erber WN, Erwood M, Estiu MC, Evans DG, Evans G, Everington T, Eyries M, Fassihi H, Favier R, Findhammer J, Fletcher D, Flinter FA, Floto RA, Fowler T, Fox J, Frary AJ, French CE, Freson K, Frontini M, Gale DP, Gale DP, Gall H, Ganesan V, Gattens M, Geoghegan C, Gerighty TSA, Gharavi AG, Ghio S, Ghofrani H-A, Gibbs JSR, Gibson K, Gilmour KC, Girerd B, Gleadall NS, Goddard S, Goldstein DB, Gomez K, Gordins P, Gosal D, Graf S, Graham J, Grassi L, Greene D, Greenhalgh L, Greinacher A, Gresele P, Griffiths P, Grigoriadou S, Grocock RJ, Grozeva D, Gurnell M, Hackett S, Hadinnapola C, Hague WM, Hague R, Haimel M, Haimel M, Hall M, Hanson HL, Haque E, Harkness K, Harper AR, Harris CL, Hart D, Hassan A, Hayman G, Henderson A, Herwadkar A, Hoffman J, Holden S, Horvath R, Houlden H, Houweling AC, Howard LS, Hu F, Hudson G, Hughes J, Huissoon AP, Humbert M, Humphray S, Hunter S, Hurles M, Irving M, Izatt L, James R, Johnson SA, Jolles S, Jolley J, Josifova D, Jurkute N, Karten T, Karten J, Kasanicki MA, Kazkaz H, Kazmi R, Kelleher P, Kelly AM, Kelsall W, Kempster C, Kiely DG, Kingston N, Klima R, Koelling N, Kostadima M, Kovacs G, Koziell A, Koziell A, Kreuzhuber R, Kuijpers TW, Kumar A, Kumararatne D, Kurian MA, Laffan MA, Lalloo F, Lambert M, Allen HL, Lawrie A, Layton DM, Lench N, Lentaigne C, Lester T, Levine AP, Linger R, Longhurst H, Lorenzo LE, Louka E, Lyons PA, Machado RD, MacKenzie Ross RV, Madan B, Maher ER, Maimaris J, Malka S, Mangles S, Mapeta R, Mapeta R, Marchbank KJ, Marks S, Markus HS, Marschall H-U, Marshall A, Martin J, Mathias M, Matthews E, Maxwell H, McAlinden P, McCarthy MI, McKinney H, McMahon A, Meacham S, Mead AJ, Castello IM, Megy K, Megy K, Mehta SG, Michaelides M, Millar C, Mohammed SN, Moledina S, Montani D, Moore AT, Morales J, Morrell NW, Mozere M, Muir KW, Mumford AD, Nemeth AH, Newman WG, Newnham M, Noorani S, Nurden P, O'Sullivan J, Obaji S, Odhams C, Okoli S, Olschewski A, Olschewski H, Ong KR, Oram SH, Ormondroyd E, Ormondroyd E, Ouwehand WH, Palles C, Papadia S, Park S-M, Parry D, Patel S, Paterson J, Peacock A, Pearce SH, Peden J, Peerlinck K, Pepke-Zaba J, Petersen R, Pilkington C, Poole KES, Prathalingam R, Psaila B, Pyle A, Quinton R, Rahman S, Rankin S, Rao A, Raymond FL, Rayner-Matthews PJ, Rees C, Rendon A, Renton T, Rhodes CJ, Rice ASC, Richardson S, Richter A, Robert L, Roberts I, Rogers A, Rose SJ, Ross-Russell R, Roughley C, Roy NBA, Ruddy DM, Sadeghi-Alavijeh O, Saleem MA, Samani N, Samarghitean C, Sanchis-Juan A, Sanchis-Juan A, Sargur RB, Sarkany RN, Satchell S, Savic S, Sayer JA, Sayer G, Scelsi L, Schaefer AM, Schulman S, Scott R, Scully M, Searle C, Seeger W, Sen A, Sewell WAC, Seyres D, Shah N, Shamardina O, Shamardina O, Shapiro SE, Shaw AC, Short PJ, Sibson K, Side L, Simeoni I, Simpson MA, Sims MC, Sivapalaratnam S, Smedley D, Smith KR, Smith KGC, Snape K, Soranzo N, Soubrier F, Southgate L, Spasic-Boskovic O, Staines S, Staples E, Stark H, Stark H, Stephens J, Steward C, Stirrups KE, Stuckey A, Suntharalingam J, Swietlik EM, Syrris P, Tait RC, Talks K, Tan RYY, Tate K, Taylor JM, Taylor JC, Thaventhiran JE, Themistocleous AC, Themistocleous AC, Thomas E, Thomas D, Thomas MJ, Thomas P, Thomson K, Thrasher AJ, Threadgold G, Thys C, Thys C, Tilly T, Tischkowitz M, Titterton C, Todd JA, Toh C-H, Tolhuis B, Tomlinson IP, Toshner M, Traylor M, Treacy C, Treadaway P, Trembath R, Tuna S, Turek W, Turro E, Twiss P, Vale T, Geet CV, Zuydam N, Vandekuilen M, Vandersteen AM, Vazquez-Lopez M, von Ziegenweidt J, Noordegraaf AV, Wagner A, Waisfisz Q, Walker SM, Walker N, Walter K, Ware JS, Watkins H, Watt C, Webster AR, Wedderburn L, Wei W, Welch SB, Wessels J, Westbury SK, Westwood J-P, Wharton J, Whitehorn D, Whitworth J, Wilkie AOM, Wilkins MR, Williamson C, Wilson BT, Wong EKS, Wood N, Wood Y, Woods CG, Woodward ER, Wort SJ, Worth A, Wright M, Yates K, Yong PFK, Young T, Yu P, Yu-Wai-Man P, Zlamalova E, Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH. Whole-genome sequencing of patients with rare diseases in a national health system. Nature 2020, 583, 96-102.
  • Gallon R, Sheth H, Hayes C, Redford L, Alhilal G, O'Brien O, Spiewak H, Waltham A, McAnulty C, Izuogu OG, Arends MJ, Oniscu A, Alonso AM, Laguna SM, Borthwick GM, Santibanez-Koref M, Jackson MS, Burn J. Sequencing‐based microsatellite instability testing using as few as six markers for high‐throughput clinical diagnostics. Human Mutation 2020, 41(1), 332-341.
  • Dlay JK, Duncan GW, Khoo TK, Williams-Gray CH, Breen DP, Barker RA, Burn DJ, Lawson RA, Yarnall AJ. Progression of Neuropsychiatric Symptoms over Time in an Incident Parkinson’s Disease Cohort (ICICLE-PD). Brain Sciences 2020, 10(2), 78.
  • Burn J. Harveian Oration 2019: Prediction and prevention in the genomic era. Clinical Medicine 2020, 20(1), 8-20.
  • Burke CA, Dekker E, Lynch P, Samadder NJ, Balaguer F, Hüneburg R, Burn J, Castells A, Gallinger S, Lim R, Stoffel EM, Gupta S, Henderson A, Kallenberg FG, Kanth P, Roos VH, Ginsberg GG, Sinicrope FA, Strassburg CP, VanCutsem E, Church J, Lalloo F, Willingham FF, Wise PE, Grady WM, Ford M, Weiss JM, Gryfe R, Rustgi AK, Syngal S, Cohen A. Eflornithine plus Sulindac for Prevention of Progression in Familial Adenomatous Polyposis. The New England Journal of Medicine 2020, 383(11), 1028-1039.
  • Dominguez-Valentin M, Sampson JR, Seppala TT, ten Broeke SW, Plazzer J-P, Nakken S, Engel C, Aretz S, Jenkins MA, Sunde L, Bernstein I, Capella G, Balaguer F, Thomas H, Evans DG, Burn J, Greenblatt M, Hovig E, de Vos tot Nederveen Cappel WH, Sijmons RH, Bertario L, Tibiletti MG, Cavestro GM, Lindblom A, Della Valle A, Lopez-Kostner F, Gluck N, Katz LH, Heinimann K, Vaccaro CA, Buttner R, Gorgens H, Holinski-Feder E, Morak M, Holzapfel S, Huneburg R, Knebel Doeberitz M, Loeffler M, Rahner N, Schackert HK, Steinke-Lange V, Schmiegel W, Vangala D, Pylvanainen K, Renkonen-Sinisalo L, Hopper JL, Win AK, Haile RW, Lindor NM, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo JC, Thibodeau SN, Wadt K, Therkildsen C, Okkels H, Ketabi Z, Moreira L, Sanchez A, Serra-Burriel M, Pineda M, Navarro M, Blanco I, Green K, Lalloo F, Crosbie EJ, Hill J, Denton OG, Frayling IM, Rodland EA, Vasen H, Mints M, Neffa F, Esperon P, Alvarez K, Kariv R, Rosner G, Pinero TA, Gonzalez ML, Kalfayan P, Tjandra D, Winship IM, Macrae F, Moslein G, Mecklin J-P, Nielsen M, Moller P. Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database. Genetics in Medicine 2020, 22, 15-25.
  • Burn J, Sheth H, Elliott F, Reed L, Macrae F, Mecklin J-P, Moslein G, McRonald FE, Bertario L, Evans DG, Gerdes A-M, Ho JWC, Lindblom A, Morrison PJ, Rashbass J, Ramesar R, Seppala T, Thomas HJW, Pylvanainen K, Borthwick GM, Mathers JC, Bishop DT, Boussioutas A, Brewer C, Cook J, Eccles D, Ellis A, Hodgson SV, Lubinski J, Maher ER, Porteous ME, Sampson J, Scott RJ, Side L. Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial. The Lancet 2020, 395(10240), 1855-1863.
  • Crosbie EJ, Ryan NAJ, Arends MJ, Bosse T, Burn J, Cornes JM, Crawford R, Eccles D, Frayling IM, Ghaem-Maghami S, Hampel H, Kauff ND, Kitchener HC, Kitson SJ, Manchanda R, McMahon RFT, Monahan KJ, Menon U, Moller P, Moslein G, Rosenthal A, Sasieni P, Seif MW, Singh N, Skarrott P, Snowsill TM, Steele R, Tischkowitz M, Evans DG. The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome. Genetics in Medicine 2019, (ePub ahead of Print).
  • Dominguez-Valentin M, Seppälä TT, Sampson JR, Macrae F, Winship I, Evans DG, Scott RJ, Burn J, Möslein G, Bernstein I, Pylvänäinen K, Renkonen-Sinisalo L, Lepistö A, Lindblom A, Plazzer JP, Tjandra D, Thomas H, Green K, Lalloo F, Crosbie EJ, Hill J, Capella G, Pineda M, Navarro M, Vidal JB, Rønlund K, Nielsen RT, Yilmaz M, Elvang LL, Katz L, Nielsen M, ten Broeke SW, Nakken S, Hovig E, Sunde L, Kloor M, v Knebel Doeberitz M, Ahadova A, Lindor N, Steinke-Lange V, Holinski-Feder E, Mecklin JP, Møller P. Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report. Hereditary Cancer in Clinical Practice 2019, 17, 28.
  • Gunter MJ, Alhomoud S, Arnold M, Brenner H, Burn J, Casey G, Chan AT, Cross AJ, Giovannucci E, Hoover R, Houlston R, Jenkins M, Laurent-Puig P, Peters U, Ransohoff D, Riboli E, Sinha R, Stadler ZK, Brennan P, Chanock SJ. Meeting report from the joint IARC-NCI international cancer seminar series: A focus on colorectal cancer. Annals of Oncology 2019, 30(4), 510-519.
  • Seppala TT, Ahadova A, Dominguez-Valentin M, Macrae F, Evans DG, Therkildsen C, Sampson J, Scott R, Burn J, Moslein G, Bernstein I, Holinski-Feder E, Pylvanainen K, Renkonen-Sinisalo L, Lepisto A, Lautrup CK, Lindblom A, Plazzer J-P, Winship I, Tjandra D, Katz LH, Aretz S, Huneburg R, Holzapfel S, Heinimann K, Valle AD, Neffa F, Gluck N, De Vos Tot Nederveen Cappel WH, Vasen H, Morak M, Steinke-Lange V, Engel C, Rahner N, Schmiegel W, Vangala D, Thomas H, Green K, Lalloo F, Crosbie EJ, Hill J, Capella G, Pineda M, Navarro M, Blanco I, Ten Broeke S, Nielsen M, Ljungmann K, Nakken S, Lindor N, Frayling I, Hovig E, Sunde L, Kloor M, Mecklin J-P, Kalager M, Moller P. Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; A prospective Lynch syndrome database report. Hereditary Cancer in Clinical Practice 2019, 17, 8.
  • Arefi M, Wilson V, Muthiah S, Zwolinski S, Bajwa D, Brennan P, Blasdale K, Bourn D, Burn J, Santibanez-Koref M, Rajan N. Diverse presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent-to-child transmission. Journal of American Academy of Dermatology 2019, 81(6), 1300-1307.
  • Gallon R, Müglegger B, Wenzel S-S, Sheth H, Hayes C, Aretz S, Dahan K, Foulkes W, Kratz CP, Ripperger T, Azizi AA, Feldman HB, Chong AL, Demirsoy U, Florkin B, Imschweller T, Januskiewicz-Lewandowska D, Lobitz S, Nathrath M, Pander HJ, Perez-Alanso V, Perne C, Ragab I, Rosenbaum T, Rueda D, Seidel MG, Suerink M, Taeubner J, Zimmermann SY, Zschocke J, Borthwick GM, Burn J, Jackson MS, Santibanez-Koref M, Wimmer K. A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes. Human Mutation 2019, 40(5), 649-655.
  • Ahadova A, Gallon R, Gebert J, Ballhausen A, Endris V, Kirchner M, Stenzinger A, Burn J, von Knebel Doeberitz M, Bläker H, Kloor M. Three molecular pathways model colorectal carcinogenesis in Lynch syndrome. International Journal of Cancer 2018, 143(1), 139-150.
  • Danilenko M, Stamp E, Stocken DD, Husain A, Zangarini M, Cranston A, Stones R, Sinclair N, Hodgson K, Bowett SA, Roblin D, Traversa S, Plummer R, Veal G, Langtry JAA, Ashworth A, Burn J, Rajan N. Targeting tropomyosin receptor kinase in cutaneous CYLD defective tumors (TRAC): A randomised placebo-controlled early phase trial with pegcantratinib. JAMA Dermatology 2018, 154(8), 913-921.
  • Sheth H, Northwood E, Ulrich CM, Scherer D, Elliott F, Barrett JH, Forman D, Wolf CR, Smith G, Jackson MS, Santibanez-Koref M, Haile R, Casey G, Jenkins M, Win AK, Hopper JL, Marchand LL, Lindor NM, Thibodeau SN, Potter JD, Burn J, Bishop DT. Interaction between polymorphisms in aspirin metabolic pathways, regular aspirin use and colorectal cancer risk: A case-control study in unselected white European populations. PLoS ONE 2018, 13, e0192223.
  • Burn J, Pirmohamed M. Direct oral anticoagulants versus warfarin: is new always better than the old?. Open Heart 2018, 5, e000712.
  • Møller P, Seppälä TT, Bernstein I, Holinski-Feder E, Sala P, Evans GD, Lindblom A, Macrae F, Blanco I, Sijmons RH, Jeffries J, Vasen HFA, Burn J, Nakken S, Hovig E, Rødland EA, Tharmaratnam K, de Vos tot Nederveen Cappel WH, Hill J, Wijnen JT, Jenkins MA, Green K, Lalloo F, Sunde L, Mints M, Bertario L, Pineda M, Navarro M, Morak M, Renkonen-Sinisalo L, Valentin MD, Frayling IM, Plazzer JP, Pylvanainen K, Genuardi M, Mecklin JP, Moeslein G, Sampson JR, Capella G. Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database. Gut 2018, 67(7), 1306-1316.
  • Leenders EKSM, Westdorp H, Bruggemann RJ, Loeffen J, Kratz C, Burn J, Hoogerbrugge N, Jongmans MCJ. Cancer prevention by aspirin in children with Constitutional Mismatch Repair Deficiency (CMMRD). European Journal of Human Genetics 2018, 26(10), 1417-1423.
  • Cline MS, Liao RG, Parsons MT, Paten B, Alquaddoomi F, Antoniou A, Baxter S, Brody L, Cook-Deegan R, Coffin A, Couch FJ, Craft B, Currie R, Dlott CC, Dolman L, den Dunnen JT, Dyke SOM, Domchek SM, Easton D, Fischmann Z, Foulkes WD, Garber J, Goldgar D, Goldman MJ, Goodhand P, Harrison S, Haussler D, Kato K, Knoppers B, Markello C, Nussbaum R, Offit K, Plon SE, Rashbass J, Rehm HL, Robson M, Rubinstein WS, Stoppa-Lyonnet D, Tavtigian S, Thorogood A, Zhang C, Zimmermann M, Burn J, Chanock S, Ratsch G, Spurdle AB. BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2. PLoS Genetics 2018, 14(12), 1007752.
  • Walker J, Hutchison P, Ge J, Zhao D, Wang Y, Rothwell PM, Gaziano JM, Chan A, Burn J, Chia J, Langley R, O'Donnell V, Rocca B, Hawkey C. Aspirin: 120 Years of Innovation. A report from the 2017 Scientific Conference of the International Aspirin Foundation, 14 September 2017, Charité, Berlin. ecancermedicalscience 2018, 12, 813.
  • Redford L, Alhilal G, Needham S, O'Brien O, Coaker J, Tyson J, Amorim LM, Middleton I, Izuogu O, Arends M, Oniscu A, Alonso AM, Laguna SM, Gallon R, Sheth H, Santibanez-Koref M, Jackson MS, Burn J. A novel panel of short mononucleotide repeats linked to informative polymorphisms enabling effective high volume low cost discrimination between mismatch repair deficient and proficient tumours. PLoS ONE 2018, 13(8), e0203052.
  • Cranston A, Stocken DD, Stamp E, Roblin D, Hamlin J, Langtry J, Plummer R, Ashworth A, Burn J, Rajan N. Tropomyosin Receptor Antagonism in Cylindromatosis (TRAC), an early phase trial of a topical tropomyosin kinase inhibitor as a treatment for inherited CYLD defective skin tumours: study protocol for a randomised controlled trial. Trials 2017, 18, 111.
  • Deciphering Developmental Disorders Study, Study authors include, Bourn D, Burn J, Fisher R, Goodship J, Hellens S, Henderson A, Montgomery T, Sneddon L, Splitt M, Straub V, Wright M, Yates L. Prevalence and architecture of de novo mutations in developmental disorders. Nature 2017, 542, 433-438.
  • Burn J. ISY16-6 - Chemoprevention for Lynch patients. Annals of Oncology 2017, 28(Supplement 9), ix28.
  • Møller P, Seppälä T, Bernstein I, Holinski-Feder E, Sala P, Evans DG, Lindblom A, Macrae F, Blanco I, Sijmons R, Jeffries J, Vasen H, Burn J, Nakken S, Hovig El, Rødland EA, Tharmaratnam K, de Vos tot Nederveen Cappel WH, Hill J, Wijnen J, Jenkins M, Green K, Lalloo F, Sunde L, Mints M, Bertario L, Pineda M, Navarro M, Morak M, Renkonen-Sinisalo L, Frayling IM, Plazzer JP, Pylvanainen K, Genuardi M, Mecklin JP, Möslein G, Sampson JR, Capella G. Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database. Gut 2017, 66(9), 1657-1664.
  • Smith SG, Foy R, McGowan J, Kobayashi LC, Burn J, Brown K, Side L, Cuzick J. General practitioner attitudes towards prescribing aspirin to carriers of Lynch Syndrome: findings from a national survey. Familial Cancer 2017, 16(4), 509-516.
  • Zumwalt TJ, Wodarz D, Komarova NL, Toden S, Turner J, Cardenas J, Burn J, Chan AT, Boland CR, Goel A. Aspirin-Induced Chemoprevention and Response Kinetics Are Enhanced by PIK3CA Mutations in Colorectal Cancer Cells. Cancer Prev Res (Phila) 2017. In Preparation.
  • Burn J, Sheth H. The role of aspirin in preventing colorectal cancer. British Medical Bulletin 2016, 119(1), 17-24.
  • Burn J, Watson M. The Human Variome Project. Human Mutation 2016, 37(6), 505-507.
  • Burn J, Sheth H. Personalised approach to anticoagulation. Journal of the Royal College of Physicians of Edinburgh 2016, 46(4), 300-302.
  • Dhanoya T, Burn J. Colon cancer and Salicylates. Evolution, Medicine, and Public Health 2016, 2016(1), 146-147.
  • Kharbanda M, Pilz DT, Tomkins S, Chandler K, Saggar A, Fryer A, McKay A, Louro P, Smith JC, Burn J, Kini U, DeBurca A, FitzPatrick DR, Kinning E. Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. European Journal of Medical Genetics 2016, 60(2), 130-135.
  • Page A, Baker D, Bobrow M, Boycott K, Burn J, Chanock S, Donnelly S, Dove E, Durbin R, Dyke S, Fiume M, Flicek P, Glazer D, Goodhand P, Haussler D, Kato K, Keenan S, Knoppers BM, Liao R, Lloyd D, Mulder N, Navarro A, North K, Philippakis A, Rahman N, Rehm H, Sawyers C, Thorogood A, Wilson J, Altshuler D, Hudson TJ. A federated ecosystem for sharing genomic, clinical data. Science 2016, 352(6291), 1278-1280.
  • Movahedi M, Bishop DT, Macrae F, Mecklin JP, Moeslein G, Olschwang S, Eccles D, Evans DG, Maher ER, Bertario L, Bisgaard ML, Dunlop MG, Ho JWC, Hodgson SV, Lindblom A, Lubinski J, Morrison PJ, Murday V, Ramesar RS, Side L, Scott RJ, Thomas HJW, Vasen HF, Burn J, Mathers JC. Obesity, Aspirin, and Risk of Colorectal Cancer in Carriers of Hereditary Colorectal Cancer: A Prospective Investigation in the CAPP2 Study. Journal of Clinical Oncology 2015, 33(31), 3591-3597.
  • Fitzgerald TW, Gerety SS, Jones WD, van Kogelenberg M, King DA, McRae J, Morley KI, Parthiban V, Al-Turki S, Ambridge K, Barrett DM, Bayzetinova T, Clayton S, Coomber EL, Gribble S, Jones P, Krishnappa N, Mason LE, Middleton A, Miller R, Prigmore E, Rajan D, Sifrim A, Tivey AR, Ahmed M, Akawi N, Andrews R, Anjum U, Archer H, Armstrong R, Balasubramanian M, Banerjee R, Baralle D, Batstone P, Baty D, Bennett C, Berg J, Bernhard B, Bevan AP, Blair E, Blyth M, Bohanna D, Bourdon L, Bourn D, Brady A, Bragin E, Brewer C, Brueton L, Brunstrom K, Bumpstead SJ, Bunyan DJ, Burn J, Burton J, Canham N, Castle B, Chandler K, Clasper S, Clayton-Smith J, Cole T, Collins A, Collinson MN, Connell F, Cooper N, Cox H, Cresswell L, Cross G, Crow Y, D'Alessandro M, Dabir T, Davidson R, Davies S, Dean J, Deshpande C, Devlin G, Dixit A, Dominiczak A, Donnelly C, Donnelly D, Douglas A, Duncan A, Eason J, Edkins S, Ellard S, Ellis P, Elmslie F, Evans K, Everest S, Fendick T, Fisher R, Flinter F, Foulds N, Fryer A, Fu B, Gardiner C, Gaunt L, Ghali N, Gibbons R, Pereira SLG, Goodship J, Goudie D, Gray E, Greene P, Greenhalgh L, Harrison L, Hawkins R, Hellens S, Henderson A, Hobson E, Holden S, Holder S, Hollingsworth G, Homfray T, Humphreys M, Hurst J, Ingram S, Irving M, Jarvis J, Jenkins L, Johnson D, Jones D, Jones E, Josifova D, Joss S, Kaemba B, Kazembe S, Kerr B, Kini U, Kinning E, Kirby G, Kirk C, Kivuva E, Kraus A, Kumar D, Lachlan K, Lam W, Lampe A, Langman C, Lees M, Lim D, Lowther G, Lynch SA, Magee A, Maher E, Mansour S, Marks K, Martin K, Maye U, McCann E, McConnell V, McEntagart M, McGowan R, McKay K, McKee S, McMullan DJ, McNerlan S, Mehta S, Metcalfe K, Miles E, Mohammed S, Montgomery T, Moore D, Morgan S, Morris A, Morton J, Mugalaasi H, Murday V, Nevitt L, Newbury-Ecob R, Norman A, O'Shea R, Ogilvie C, Park S, Parker MJ, Patel C, Paterson J, Payne S, Phipps J, Pilz DT, Porteous D, Pratt N, Prescott K, Price S, Pridham A, Procter A, Purnell H, Ragge N, Rankin J, Raymond L, Rice D, Robert L, Roberts E, Roberts G, Roberts J, Roberts P, Ross A, Rosser E, Saggar A, Samant S, Sandford R, Sarkar A, Schweier S, Scott C, Scott R, Selby A, Seller A, Sequeira C, Shannon N, Shanrif S, Shaw-Smith C, Shearing E, Shears D, Simonic I, Simpkin D, Singzon R, Skitt Z, Smith A, Smith B, Smith K, Smithson S, Sneddon L, Splitt M, Squires M, Stewart F, Stewart H, Suri M, Sutton V, Swaminathan GJ, Sweeney E, Tatton-Brown K, Taylor C, Taylor R, Tei M, Temple IK, Thomson J, Tolmie J, Torokwa A, Treacy B, Turner C, Turnpenny P, Tysoe C, Vandersteen A, Vasudevan P, Vogt J, Wakeling E, Walker D, Waters J, Weber A, Wellesley D, Whiteford M, Widaa S, Wilcox S, Williams D, Williams N, Woods G, Wragg C, Wright M, Yang F, Yau M, Carter NP, Parker M, Firth HV, FitzPatrick DR, Wright CF, Barrett JC, Hurles ME, Deciphering Dev Disorders Study. Large-scale discovery of novel genetic causes of developmental disorders. Nature 2015, 519(7542), 223-228.
  • Nair R, Reading R, Killilea k. Great Imitator. Journal of Neurology, Neurosurgery and Psychiatry 2015, 86, e3.
  • Wright CF, Fitzgerald TW, Jones WD, Clayton S, McRae JF, van Kogelenberg M, King DA, Ambridge K, Barrett DM, Bayzetinova T, Bevan AP, Bragin E, Chatzimichali EA, Gribble S, Jones P, Krishnappa N, Mason LE, Miller R, Morley KI, Parthiban V, Prigmore E, Rajan D, Sifrim A, Swaminathan GJ, Tivey AR, Middleton A, Parker M, Carter NP, Barrett JC, Hurles ME, Fitzpatrick DR, Firth HV, DDD study. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. The Lancet 2015, 385(9975), 1305-1314.
  • Moller P, Seppala T, Bernstein I, HolinskiFeder E, Sala P, Evans D, Lindblom A, Macrae F, Blanco I, Sijmons R, Jeffries J, Vasen H, Burn J, Nakken S, Hovig E, Rodland E, Tharmaratnam K, de Vos Tot Nederveen Cappel W, Hill J, Wijnen J, Green K, Lalloo F, Sunde L, Mints M, Bertario L, Pineda M, Navarro M, Morak M, RenkonenSinisalo L, Frayling I, Plazzer J, Pylvanainen K, Sampson J, Capella G, Mecklin J, Moslein G. Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database. Gut 2015, (Online first).
  • Sheth H, Northwood E, Elliott F, Jackson M, Koref MS, Tyson J, Daly A, O'Halloran J, Sheth J, Sheth F, Parikh K, Bishop DT, Burn J. Point of care testing for improving risk- benefit ratio of aspirin and warfarin. Molecular Cytogenetics 2014, 7(Suppl 1:154).
  • Wieczorek D, Newman WG, Wieland T, Berulava T, Kaffe M, Falkenstein D, Beetz C, Graf E, Schwarzmayr T, Douzgou S, Clayton-Smith J, Daly SB, Williams SG, Bhaskar SS, Urquhart JE, Anderson B, O'Sullivan J, Boute O, Gundlach J, Czeschik JC, van Essen AJ, Hazan F, Park S, Hing A, Kuechler A, Lohmann DR, Ludwig KU, Mangold E, Steenpass L, Zeschnigk M, Lemke JR, Lourenco CM, Hehr U, Prott EC, Waldenberger M, Bohmer AC, Horsthemke B, O'Keefe RT, Meitinger T, Burn J, Luedecke HJ, Strom TM. Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome. American Journal of Human Genetics 2014, 95(6), 698-707.
  • Del-Giudice E, Macca M, Imperati F, D'Amico A, Parent P, Pasquier L, Layet V, Lyonnet S, Stamboul-Darmency V, Thauvin-Robinet C, Franco B. CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study. Orphanet Journal of Rare Diseases 2014, 9, 74.
  • 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.
  • Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Jos S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van-Maldergem L, Temple IK, Cole T, Seal S. Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. American Journal of Medical Genetics: Part A 2013, 161(12), 2972-2980.
  • Burn J. Obsesrvations: John Burn: Pet hate is risk averse bureaucracy. BMJ 2013, 347, f6736.
  • Burn J, Mathers JC, Bishop DT. Chemoprevention in Lynch syndrome. Familial Cancer 2013, 12(4), 707-718.
  • Bonello N, Sampson J, Burn J, Wilson IJ, McGrown G, Margison GP, Thorncroft M, Crossbie P, Povey AC, Santibanez-Koref M, Walters K. Bayesian inference supports a location and neighbour-dependent model of DNA methylation propagation at the MGMT gene promoter in lung tumours. Journal of Theoretical Biology 2013, 336, 87-95.
  • Saunders SP, Goh CSM, Brown SJ, Palmer CNA, Porter RM, Cole C, Campbell LE, Gierlinski M, Barton GJ, Schneider G, Balmain A, Prescott AR, Weidinger S, Baurecht H, Kabesch M, Gieger C, Lee YA, Tavendale R, Mukhopadhyay S, Turner SW, Madhok VB, Sullivan FM, Relton C, Burn J, Meggitt S, Smith CH, Allen MA, Barker JNWN, Reynolds NJ, Cordell HJ, Irvine AD, McLean WHI, Sandilands A, Fallon PG. Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects. Journal of Allergy and Clinical Immunology 2013, 132(5), 1121-1129.
  • 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, Mathers J, Bishop DT. Lynch Syndrome: History, Causes, Diagnosis, Treatment and Prevention (CAPP2 Trial). Digestive Diseases 2012, 30(s2), 39-47.
  • 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. 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.
  • 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.
  • 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.
  • Burn J, Gerdes AM, Macrae F, Mecklin JP, Moeslein G, Olschwang S, Eccles D, Evans DG, Maher ER, Bertario L, Bisgaard ML, Dunlop MG, Ho JWC, Hodgson SV, Lindblom A, Lubinski J, Morrison PJ, Murday V, Ramesar R, Side L, Scott RJ, Thomas HJW, Vasen HF, Barker G, Crawford G, Elliott F, Movahedi M, Pylvanainen K, Wijnen JT, Fodde R, Lynch HT, Mathers JC, Bishop DT. Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet 2011, 378(9809), 2081-2087.
  • 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.
  • Burn J. Chemoprevention. Viszeralmedizin 2011, 27(4), 322-328.
  • 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. 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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, 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • Brown SJ, Relton CL, Liao H, Zhao Y, Sandilands A, Wilson IJ, Burn J, Reynolds NJ, McLean WH, Cordell HJ. Filaggrin null mutations and childhood atopic eczema: A population-based case-control study. Journal of Allergy and Clinical Immunology 2008, 121(4), 940-946.
  • 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, for the 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.
  • Burn J. Can a cell have a soul?. British Medical Journal 2008, 336(7653), 1132.
  • 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.
  • 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.
  • Burn J. Discovery of structure of DNA: the best is yet to come. British Medical Journal 2007, 334, s9.
  • 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.
  • 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.
  • 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, 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.
  • Venables JP, Burn J. EASI - Enrichment of alternatively spliced isoforms. Nucleic Acids Research 2006, 34(15), e103.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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, 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.
  • Burn J. [abstract] Specific issues in colon cancer. EJC Supplements 2005, 3(2), 9.
  • 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.
  • 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.
  • 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, 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.
  • 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.
  • 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.
  • 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.
  • 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), -.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • Mathers JC, Mickleburgh I, Chapman PC, Bishop DT, Burn J. Can resistant starch and/or aspirin prevent the development of coloi neoplasia? The Concerted Action Polyp Prevention (CAPP) 1 Study. Proceedings of the Nutrition Society 2003, 62(1), 51-72.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • Berney TP, Ireland M, Burn J. Behavioural phenotype of Cornelia de Lange syndrome. Archives of Disease in Childhood 1999, 81(4), 333-336.
  • Chase DS, Tawn EJ, Parker L, Jonas P, Parker CO, Burn J. The North Cumbria Community Genetics Project. Journal of Medical Genetics 1998, 35(5), 413-416.
  • Chase DS, Tawn EJ, Parker L, Jonas P, Parker CO, Burn J. The North Cumbria Community Genetics Project. JOURNAL OF MEDICAL GENETICS 1998, 35(5), 413-416.
  • 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.
  • 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.
  • 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.
  • 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.
  • Green SE, Bradburn DM, Varma JS, Burn J. Hereditary non-polyposis colorectal cancer. International Journal of Colorectal Disease 1998, 13(1), 3-12.
  • 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.
  • 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.
  • 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.
  • 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.
  • Douglas F. and Burn J. Cancer genetics: a summary. Cleveland Medical Journal 1998, 1998, 4-5.
  • Mills SJ, Mathers JC, Chapman PD, Burn J, Gunn A. Aspirin, sulindac and the rectum in familial adenomatous polyposis. British Journal of Surgery 1998, 85, 55-56.
  • 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, 305-308.
  • 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.
  • 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 and N. M. Fisk. Terathanasia, folic acid, and birth defects. Lancet 1997, 350, 1322-1323.
  • Fisk N.M. and Burn J. Terathanasia, folic acid and birth defects (letter). Lancet 1997, 350, 1322-1323.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • S. A. Lynch and J. Burn. Genetic counselling in families with hereditary sacral agenesis. Journal of Medical Genetics 1997, 34, SP16-SP16.
  • 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.
  • M. P. Splitt, J. Burn and J. A. Goodship. Determination of left-right asymmetry. Journal of Medical Genetics 1997, 34, SP28-SP28.
  • Burn J. and Chapman P.D. Colon cancers: genes or environment?. Nutrition Abstracts and Reviews, Series A: Human and Experimental 1997, 67, 787-784.
  • 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.
  • 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.
  • 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.
  • 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. 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • C. Papapetrou, S. A. Lynch, J. Burn and Y. H. Edwards. Methylenetetrahydrofolate reductase and neural tube defects. Lancet 1996, 348, 58-58.
  • 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.
  • 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. McHale, M. E. M. Porteous, J. Wentzel and J. Burn. Further evidence of genetic heterogeneity in hereditary hydronephrosis. Clinical Genetics 1996, 50, 491-493.
  • J. Burn and J. Goodship. Developmental genetics of the heart. Current Opinion in Genetics & Development 1996, 6, 322-325.
  • M. P. Splitt, J. Burn and J. Goodship. Defects in the determination of left-right asymmetry. Journal of Medical Genetics 1996, 33, 498-503.
  • 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.
  • 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.
  • 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.
  • Burn J, Strachan T. Human embryo use in developmental research. Nature Genetics 1995, 11(1), 3-6.
  • Green SE, Chapman PD, Burn J, Bishop DT, Varma JS. Clinical impact of colonoscopic screening in first‐degree relatives of patients with hereditary non‐polyposis colorectal cancer. British Journal of Surgery 1995, 82(10), 1338-1340.
  • 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.
  • Goldman A, Martin RH, Johannisson R, Gould CP, Davison EV, Emslie JE, Burn J, Hulten MA. Meiotic and Sperm Chromosome Analysis In A Male Carrier Of An Inverted Insertion (3 10) (Q13.2 P14p13). Journal of Medical Genetics 1992, 29(7), 460-464.
  • Porteous MEM, Burn J, Proctor SJ. Hereditary haemorrhagic telangiectasia: a clinical analysis. Journal of Medical Genetics 1992, 29(8), 527-530.
  • Goodship J, Curtis A, Cross I, Brown J, Emslie J, Wolstenholme J, Bhattacharya S, Burn J. A Submicroscopic Translocation, T(4 10), Responsible For Recurrent Wolf-Hirschhorn Syndrome Identified By Allele Loss And Fluorescent Insitu Hybridization. Journal of Medical Genetics 1992, 29(7), 451-454.
  • 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.
  • 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, 28(9), 639-640.
  • 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.

• Book Chapters

  • Bamforth SD, Burn J. DiGeorge Syndrome. In: Stanley Maloy and Kelly Hughes, ed. Brenner's Encyclopedia of Genetics. Academic Press, 2013, pp.319-321.
  • 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.

• Conference Proceedings (inc. Abstracts)

  • Burn J. Neuroferritinopathy: iron in the brain. In: Molecular Cytogenetics. 2014, Ahmedabad, India: BioMed Central Ltd.
  • Burn J. Affordable diagnosis and prevention of genetic disease. In: Molecular Cytogenetics. 2014, Ahmedabad, India: BioMed Central Ltd.
  • Burn J. The shapes of things to come. In: Journal of Medical Genetics. 2012, Coventry, UK: BMJ Group.
  • Cowley L, Burn J. Morality and Genetic Testing - Are test decliners at risk of becoming a new "genetic underclass"?. In: Journal of Medical Genetics. 2012, London, UK: BMJ Publishing Group.
  • Rajan N, Burn J, Langtry J, Sieber-Blum M, Lord CJ, Ashworth A. Loss of organisation in CYLD defective tumours is associated with reduced DKK2 expression. In: BRITISH JOURNAL OF DERMATOLOGY. 2011, COMMERCE PLACE, 350 MAIN ST, MALDEN 02148, MA USA: WILEY-BLACKWELL.
  • Rajan N, Gillinder K, Lord C, Langtry JAA, Burn J, Ashworth A, Chaudhury B, Sieber-Blum M. Unravelling cylindromas: insights into appendageal tumour patterning from patients with truncating CYLD mutations. In: 90th Annual Meeting of the British Association of Dermatologists. 2010, Manchester, UK: Wiley-Blackwell Publishing, Inc.
  • 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.
  • 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: BMJ Publushing Group.
  • 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.
  • Rajan N, Lord CJ, Clewes O, Burn J, Sieber-Blum M, Ashworth A. Dysregulated tropomyosin receptor kinase signalling in CYLDtrunc/trunc tumours. In: BRITISH JOURNAL OF DERMATOLOGY. 2010, COMMERCE PLACE, 350 MAIN ST, MALDEN 02148, MA USA: WILEY-BLACKWELL.
  • Rajan N, Lord CJ, Clewes O, Burn J, Sieber-Blum M, Ashworth A. Dysregulated tropomyosin receptor kinase signalling in CYLDtrunc/trunc tumours. In: BRITISH JOURNAL OF DERMATOLOGY. 2010, COMMERCE PLACE, 350 MAIN ST, MALDEN 02148, MA USA: WILEY-BLACKWELL.
  • Rajan N, Elliott R, Lord C, Clewes O, Burn J, Sieber-Blum M, Ashworth A. Dysregulated tropomyosin receptor kinase (Trk) signalling in CYLD mutant tumours. In: 40th Annual Meeting of the European Society for Dermatological Research. 2010, Nature Publishing 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.
  • 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.
  • Rajan N, Elliott R, Lord CJ, Burn J, Blum MS, Ashworth A. Advances in the development of new therapies for CYLD mutation carriers Targeting Trk. In: Journal of Medical Genetics. 2010, BMJ Publishing Group.
  • Rajan N, Powell H, Langtry JAA, Carmichael A, Bourn D, Burn J. Two novel CYLD mutations associated with Brooke-Spiegler syndrome. In: 89th Annual Meeting of the British Association of Dermatologists. 2009, Glasgow, UK: Wiley-Blackwell Publishing, Inc.
  • 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: 82nd Scientific Session of the American Heart Association. 2009, Orlando, Florida, USA: Lippincott Williams & Wilkins.
  • Henderson A, Jonas P, Burn J, Douglas P. Familial Cholangiocarcinoma: Case Report and Review. In: JOURNAL OF MEDICAL GENETICS. 2009, BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND: B M J PUBLISHING GROUP.
  • 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.
  • 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: 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: Joint ECCO 15 – 34th ESMO Multidisciplinary Congress. 2009, Berlin, Germany: Pergamon.
  • 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: British Human Genetics Conference. 2009, University of Warwick, UK: BMJ Group.
  • Rajan N, Bourn D, Roberts C, Langtry JAA, Burn J. A review of seven UK pedigrees with CYLD mutations: clinical implications for mutation carriers. In: 89th Annual Meeting of the British Association of Dermatologists. 2009, Glasgow, UK: Wiley-Blackwell Publishing, Inc.
  • 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: 5th International Conference on Cancer Prevention. 2008, St Gallen, Switzerland: 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. In: EJC Supplements: 6th European Breast Cancer Conference. 2008, Berlin, Germany: Pergamon.
  • 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.
  • 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.
  • 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: Wiley-Blackwell.
  • Rajan N, Langtry J, Chapman P, Trainer A, Burn J. Familial cylindromatosis, Brooke-Spiegler syndrome and multiple famililal trichoepithiliomas: Tumour mapping of 26 patients with CYLD mutations suggest androgen stimulation may play a role in tumourigenesis. In: 2008 Annual Meeting. 2008, Nature Publishing 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.
  • 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.
  • Cilliers D, Douglas J, Tatton-Brown K, Bernhard B, Burn J, Huson S, Josifova D, Lacombe D, Malik M, Mansour S, Reid E, Cormiere-Daire V, Cole T, Rahman N. RNF135, a gene within the 17q11 NF1-microdeletion region, is responsible for a new autosomal dominant overgrowth syndrome with reduced penetrance. In: British Human Genetics Conference. 2007, University of York: BMJ Publishing Group.
  • 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: British Human Genetics Conference. 2007, University of York: 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: British Human Genetics Conference. 2005, York, UK: BMJ Group.
  • 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.
  • Burn J, Mathers J, Barker G, Bishop T. Resistant starch and aspirin in genetically predisposed people: The CAPP studies. In: 3rd Annual AACR International Conference. 2004, Seattle, Washington, USA: American Association for Cancer Research.
  • 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: 40th Annual Meeting of the American Society of Clinical Oncology. 2004, New Orleans, Lousiana, USA: American Society of Clinical Oncology.
  • Crompton DE, Griffiths TD. Not a laughing matter. In: Annual Meeting of the British Neuropsychiatry Association at the Institute of Child Health. 2004, London, UK: BMJ Group.
  • Johnson AS, Arthur HM, Burn J, Wilson RG. Bowel cancer prevention: Aspirin induces Cox-2 independent endothelial cell apoptosis facilitating angiogenesis arrest. In: Annual Meeting of the British Society of Gastroenterology. 2004, Glasgow, UK: BMJ Group.
  • Arthur H, Torsney E, Burn J. The role of endoglin in cardiovascular development. In: 13th Genetics-Societys Mammalian Genetics and Development Workshop. 2003, London, UK: Cambridge University Press.
  • 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: Annual Meeting of the American Society of Human Genetics. 2003, Los Angeles, California, USA: Cell Press.
  • 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: 2nd Annual AACR International Conference on Frontiers in Cancer Prevention Research. 2003, Phoenix, Arizona, USA: American Association for Cancer Research.
  • 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.
  • 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: 52nd Annual Meeting of the American Society of Human Genetics. 2002, Baltimore, Maryland, USA: Cell Press.
  • 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: Meeting on Molecular and Clinical Aspects of Human Iron Metabolism. 2002, Chiemesee, Germany: Academic Press.
  • Fey C, Curtis ARJ, Chinnery PF, Lombes A, Morris CM, Curtis A, Burn J. Did neuroferritinopathy originate in France?. In: European Human Genetics Conference in conjunction with the European Meeting on Psychosocial Aspects of Genetics 2002. 2002, Strasbourg, France: Nature Publishing Group.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • Arthur HM, Wilson DI, Torsney E, Renforth G, Diamond AG, Burn J. Progress towards developing a mouse model of Hereditary Haemorrhagic Telangiectasia. In: ASHG Annual Meeting. 1999, San Francisco, California: Cell Press.
  • 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.
  • 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.
  • 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.
  • Burn J, Gibbons D. May Spina-Bifida result from an X-Linked defect in a selective abortion mechanism. In: Heredity. 1978.

• Digital or Visual Media

  • Burn J. Channel 4 film: White Men Can’t Run. Ground Floor, 46 – 52 Pentonville Road, London N1 9HF: Hey Buddy TV, 2011.

• Editorials

  • Lawler M, Siu LL, Rehm HL, Chanock SJ, Alterovitz G, Burn J, Calvo F, Lacombe D, Teh BT, North KN, Sawyers CL, Global Alliance Genomics Hlth GA4G. All the World's a Stage: Facilitating Discovery Science and Improved Cancer Care through the Global Alliance for Genomics and Health. Cancer Discovery 2015, 5(11), 1133-1136.
  • Burn J. Alison's Story - A Cautionary Tale in the Age of Genomic Medicine. Surgical Oncology Clinics of North America 2015, 24(4), 635-637.
  • Burn J. Should we sequence everyone's genome? Yes. BMJ 2013, 346, f3132.
  • 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.
  • 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.
  • Burn J. Closing time for CATCH22. Journal of Medical Genetics 1999, 36(10), 737-738.

• Letters

  • Gallon R, Phelps R, Betts L, Hayes C, Masic D, Irving JAE, McAnulty C, Saha V, Vora A, Wimmer K, Motwani J, Macartney C, Burn J, Jackson MS, Moorman AV, Santibanez-Koref M. Detection of constitutional mismatch repair deficiency in children and adolescents with acute lymphoblastic leukemia. Leukemia and Lymphoma 2022, Epub ahead of print.
  • Monahan KJ, Lincoln A, East JE, Benton S, Burn J, DeSouza B, Hanson H, Lalloo F, McVeigh T, Rutter MD, Snape K, Thomas HJW, Sasieni P. Management strategies for the colonoscopic surveillance of people with Lynch syndrome during the COVID-19 pandemic. Gut 2021, 70(3), 624-626.
  • Moller P, Sampson J, Dominguez-Valentin M, Burn J, Sunde L, Moslein G, Mecklin J-P, Seppala T. Recent advances in Lynch syndrome. Familial Cancer 2020, -.
  • Cook S, Wilson V, Ness J, Burn J, Husain A, Rajan N. Detection of genetic tumour predisposition syndromes using electronic health records. British Journal of Dermatology 2020, 183(5), 949-950.
  • Monahan KJ, Alsina D, Bach S, Buchanan J, Burn J, Clark S, Dawson P, DeSouza B, Din FV, Dolwani S, Dunlop MG, East J, Evans DG, Fearnhead N, Frayling IM, GlynneJones R, Hill J, Houlston R, Hull M, Lalloo F, Latchford A, Lishman S, Quirke P, Rees C, Rutter M, Sasieni P, Senapati A, Speake D, Thomas H, Tomlinson I. Urgent improvements needed to diagnose and manage Lynch syndrome. BMJ 2017, 356, j1388.
  • Sheth H, Jackson MS, Koref MS, Parikh K, Sheth J, Sheth F, Tyson J, Daly AK, Burn J. Relevance of genetic factors to warfarin dosing in India. Blood 2015, 126(4).
  • Deciphering Developmental Disorders Study. Large-scale discovery of novel genetic causes of developmental disorders. Nature 2015, 519(7542), 223-228.
  • Burn J, Mathers JC, Bishop DT. Does aspirin really reduce the risk of colon cancer? Reply. Lancet 2012, 379(9826), 1587-1587.
  • 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.
  • Bishop D, Burn J, Mathers J. The authors reply. New England Journal of Medicine 2009, 360(14), 1462-1463.
  • 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.
  • 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.
  • Relton CL, Pearce MS, Ness A, Burn J. Folate Status and Genetic Selection. Nature Genetics 2005.
  • 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.
  • Healey CS, Dunning AM, Teare MD, 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.
  • 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.
  • 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.
  • Clarke AJ, Burn J. Modern Genetics and Neuromuscular Disorders. Lancet 1987, 1(8533), 626-626.

• Notes

  • Burn J. Recognition of clinical genetics in Europe. European Journal of Human Genetics 2018, 25, S50.
  • Burn J. The current status of chemoprevention in FAP: Commentary. Familial Cancer 2006, 5(3), 295-296.
  • Opitz JM, Burn J. RE: Correspondence from Wieczorek & Gillessen-Kaesbach and Hing & Parisi. American Journal of Medical Genetics, Part A 2006, 140(21), 2385.
  • Finnell RH, Burn J. Effect of anti-epileptic drugs on intrauterine growth. Lancet 2000, 356(9241), 1537-1538.

• Online Publications

  • Burn J. Could aspirin reverse increased cancer risk in overweight people?. The Conversation Trust (UK) Limited, 2015. Available at: https://theconversation.com/could-aspirin-reverse-increased-cancer-risk-in-overweight-people-46236.
  • Wang J, Carvajal-Carmona LG, Chu JH, Zauber AG, APC-Trial Collaborators, Kubo M, Matsuda K, Dunlop M, Houlston RS, Sieber O, Lipton L, Gibbs P, Martin NG, Montgomery GW, Young J, Baird PN, Ratain MJ, Nakamura Y, Weiss ST, Tomlinson I, Bertagnolli MM. Germline variants and advanced colorectal adenomas: adenoma prevention with celecoxib trial genome-wide association study. 2013. In Preparation.

• Reviews

  • Moller P, Seppala TT, Ahadova A, Crosbie EJ, Holinski-Feder E, Scott R, Haupt S, Moslein G, Winship I, Broeke SWB-T, Kohut KE, Ryan N, Bauerfeind P, Thomas LE, Evans DG, Aretz S, Sijmons RH, Half E, Heinimann K, Horisberger K, Monahan K, Engel C, Cavestro GM, Fruscio R, Abu-Freha N, Zohar L, Laghi L, Bertario L, Bonanni B, Tibiletti MG, Lino-Silva LS, Vaccaro C, Valle AD, Rossi BM, da Silva LA, de Oliveira Nascimento IL, Rossi NT, Debniak T, Mecklin J-P, Bernstein I, Lindblom A, Sunde L, Nakken S, Heuveline V, Burn J, Hovig E, Kloor M, Sampson JR, Dominguez-Valentin M. Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes - an EHTG, PLSD position statement. Hereditary Cancer in Clinical Practice 2023, 21(1), 19.
  • Ahadova A, Seppala TT, Engel C, Gallon R, Burn J, Holinski-Feder E, Steinke-Lange V, Moslein G, Nielsen M, ten Broeke SW, Laghi L, Dominguez-Valentin M, Capella G, Macrae F, Scott R, Huneburg R, Nattermann J, Hoffmeister M, Brenner H, Blaker H, von Knebel Doeberitz M, Sampson JR, Vasen H, Mecklin J-P, Moller P, Kloor M. The "unnatural" history of colorectal cancer in Lynch syndrome: Lessons from colonoscopy surveillance. International Journal of Cancer 2021, 148(4), 800-811.
  • Seppala TT, Latchford A, Negoi I, Sampaio Soares A, Jimenez-Rodriguez R, Sanchez-Guillen L, Evans DG, Ryan N, Crosbie EJ, Dominguez-Valentin M, Burn J, Kloor M, von Knebel Doeberitz M, van Duijnhoven FJB, Quirke P, Sampson JR, Moller P, Moslein G. European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender. British Journal of Surgery 2021, 108(5), 484-498.
  • Sheth H, McNally D, Santibanez-Koref M, Burn J. Association of stroke and bleed events in non-valvular atrial fibrillation patients with direct oral anticoagulant prescriptions in NHS England between 2013 and 2016. PLoS ONE 2019, 14(6), e0218878.
  • Cuzick J, Thorat MA, Bosetti C, Brown PH, Burn J, Cook NR, Ford LG, Jacobs EJ, Jankowski JA, La Vecchia C, Law M, Meyskens F, Rothwell PM, Senn HJ, Umar A. Estimates of benefits and harms of prophylactic use of aspirin in the general population. Annals of Oncology 2015, 26(1), 47-57.
  • Vasen HFA, Blanco I, Aktan-Collan K, Gopie JP, Alonso A, Aretz S, Bernstein I, Bertario L, Burn J, Capella G, Colas C, Engel C, Frayling IM, Genuardi M, Heinimann K, Hes FJ, Hodgson SV, Karagiannis JA, Lalloo F, Lindblom A, Mecklin JP, Moller P, Myrhoj T, Nagengast FM, Parc Y, de Leon MP, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Sijmons RH, Tejpar S, Thomas HJW, Rahner N, Wijnen JT, Jarvinen HJ, Moslein G, the Mallorca Group. Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut 2013, 62(6), 812-823.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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 JP, Moller P, Myrhoi T, Nagengast FM, Parc Y, Phillips R, Clark SK, de Leon MP, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas HJW, Wijnen J. Guidelines for the clinical management of familial adenomatous polyposis (FAP). GUT 2008, 57(5).
  • 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.
  • Burn J, Chinnery PF. Neuroferritinopathy. Seminars in Pediatric Neurology 2006, 13(3), 176-181.
  • Mathers JC, Nutr D, Burn J. Nutrition in cancer prevention. Current Opinion in Oncology 1999, 11(5), 402-407.