Selected publications


Cardiovascular genetics

Tafelmeier M, Baessler A, Wagner S, Unsoeld B, Preveden A, Barlocco F, Tomberli A, Popovic D, Brennan P, MacGowan GA, Ristic A, Velicki L, Olivotto I, Jakovljevic DG, Maier LS. Design of the SILICOFCM study: Effect of sacubitril/valsartan vs. lifestyle intervention on functional capacity in patients with hypertrophic cardiomyopathy. Clin Cardiol 2020;43(5):430-440

Velicki LJakovljevic DGPreveden AGolubovic MBjelobrk MIlic AStojsic SBarlocco FTafelmeier MOkwose NTesic MBrennan PPopovic DRistic AMacGowan GAFilipovic NMaier LSOlivotto I. Genetic determinants of clinical phenotype in hypertrophic cardiomyopathy. BMC Cardiovascular Disorders 2020;20(1):516 et seq

Mullen M Jin, X, Child A, Stuart A, Dodd M, Aragon-Martin J, Gaze D, Kiotsekoglou A, Yuan L, Hu J, Foley C, Dyck L, Knight R, Clayton T, Swan L, Thomson J, Erdem G, Crossman D, Flather M, MacAllister R on behalf of the AIMS investigators. Irbesartan in Marfan syndrome (AIMS): a double-blind, placebo-controlled randomised trial. The Lancet 2019; 10216:2263-2270 

Preveden A, Djorovic S, Tafelmeier M, Barloco F, Okwose N, Yavuz S, Mijailovic S, Aguado-Sierra J, Stojanovic B, Maier L, Geeves M, Olivotto I, Bosnic Z, Regnier M, Tachos N, Fotiadis D, Brennan P, MacGowan GA, Poggesi C, Redzek A, Velicki L, Jakovljevic DG, Filipovic N.   In silico trials for drug tracing the effects of sarcomeric protein mutations leading to familial cardiomyopathy – SILICOFCM European Society of Cardiology Digital Summit, Tallinn – Estonia, 5-6 October 2019

Jewell R, Clasper S, Page S, Watson CM, Claber O, Hayes C, Sergeant K, Coates A, Crinnion LA, Hewitt S, Miossec M, Santibanez-Koref M, Ashcroft K, Bonthron DT,  Thomson J, Keavney B, Brennan P, Bennett C. Brugada syndrome caused by a 3p22.2 deletion including SCN5A and SCN10A defined using medium coverage whole exam sequencing. Research Gate 2018.

Thomson KL, Ormondroyd E, Harper AR, Dent T, McGuire  K, Baksi J, Blair E, Brennan P, Buchan R, Bueser T, Campbell C, Carr-White G, Cook S, Daniels M, Deevi SVV, Goodship J, Hayesmoore JBG, Henderson A, Lamb T, Prasad S, Rayner-Matthews P, Robert L, Sneddon L, Stark H, Walsh R, Ware JS, Farrall, Watkins HC & NIHR BioResource Rare Diseases Consortium. Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield. Genetics in Medicine published online 11th December 2018

Brown S, Ahmed J, Zwolinski S, Brennan P, Rajan N. A novel link between keratoderma and cardiomyopathy: Contiguous gene deletion involving the desmoglein gene cluster. British Journal of Dermatology 2018;178:284–285

Walsh MA, Turner C, Timothy KW, Seller N, Hares DL, James AF,  Hancox JC, Uzun O, Boyce D,  Stuart AG,  Brennan P, Sarton C, McGuire K, Newbury-Ecob RA, Mcleod K. A multicentre study of patients with Timothy syndrome.  EP Europace 2017 Published online 24 March 2017

Wilson BT, Jensen SA, McAnulty CPP, Brennan P, Handford PA, Splitt MP. Juvenile idiopathic arthritis, mitral valve proplapse and a familial variant involving the integrin-binding fragment of FBN1. Am J Med Genet 2013; 161:2047-2051

Lee D, Brennan P, Lord S. The extent and consequences of diagnostic uncertainty in individuals assessed for arrhythmogenic right ventricular cardiomyopathy. Eur Heart J 2012; 33:743 (suppl 1) doi: 10.1093/eurheartj/ehs283

Oliver J, Goodfellow J, Hammond A, Farrer M, Stewart M, Bourke J, Brennan P. The impact of cardiac genetics nurses in a pre-genetic screening clinic. In: 12th Annual Spring Meeting on Cardiovascular Nursing. 2012, Copenhagen, Denmark: Sage Publications Ltd.

Blakemore S, Brennan P, Bailey K. Pre-genetics triage by nurses reduces pressure on services. Cancer Nursing Practice 2011;10: 4

Ormondroyd L, Blair E, McClymont C, McKeown P, McOsker J, Stewart F, Brennan P, Ecob RN, Stewart G, Mehta S, Newman W, Metcalfe K, Storrar LK, Watkins H. UK GenetICC – Inherited Cardiac Conditions Register. J Med Genet 2011; 48 (suppl)

Brennan P. Clinical Opinion: Revised diagnostic criteria for Marfan syndrome. J R Coll Phys Ed 2011;41:223

Oliver, J, Goodfellow J, Smyth L, Bourne R, Farrer M, Brennan P. Using patient experiences to develop a pre cardiac genetic service around family needs. British Journal of Cardiac Nursing 2011;6:291-4

Steward CG, Newbury-Ecob RA, Hastings R, Smithson SF, Quarrell OW, Kulik W, Wanders R, Jones M, Williams M, JL Cresswell, Gonzalez IL, Brennan P. Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth. Prenatal Diagnosis 2010;30:970-976

Brennan P. A new syndrome of hypoplastic left heart and postaxial polydactyly. Clin Dysmorph 2001;10:219-222

Brennan P, Young ID. Congenital heart malformations: aetiology and associations. Sem Neonatol 2001;6:17-25

Burn J, Brennan P, Little J, et al.  Recurrence risks in the offspring of adults with major heart defects: results from the first cohort of a British collaborative study. Lancet 1998;351:311-316

Cancer genetics

Barnes DRRookus MAMcGuffog LLeslie GMooij TMDennis JMavaddat NAdlard JAhmed MAittomaki KAndrieu NAndrulis ILArnold NArun BKAzzollini JBalmana JBarkardottir RBBarrowdale DBenitez JBerthet PBialkowska KBlanco AMBlok MJBonanni BBoonen SEBorg ABozsik ABradbury ARBrennan P, et al. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants. Genetics in Medicine 2020;22(10):1653-1666

Hanson H, Brady AF, Crawford G, Eeles RA, Gibson S, Jorgensen M, Izatt L, Sohaib A, Tischkowitz M, Evans DG, Consensus Group Members [Brennan P]. UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants. J Med Genet 2020

Evans DG, Edwards M, Duffy SW, Cancer Genetics Group clinical leads, Tischkowitz M.  Sporadic implementation of UK familial mammographic surveillance guidelines 15 years after original publication. Br J Cancer 2020 

Rosenthal ANFraser LSMPhilpott SManchanda RBurnell MBadman PHadwin RRizzuto 1, Benjamin ESingh NEvans DGEccles DMRyan AListon RDawnay AFord JGunu RMackay JSkates SJMenon UJacobs IJ, United Kingdom Familial Ovarian Cancer Screening Study collaborators. Evidence of Stage Shift in Women Diagnosed With Ovarian Cancer During Phase II of the United Kingdom Familial Ovarian Cancer Screening  Study. J Clin Oncol 2017; 35:1411-1420

Brennan P, Claber O, Brennan T. Cancer family history triage: a key step in the decision to offer screening and genetic testing. Familial Cancer 2013 12:497-502

Brennan P, Claber O, Shaw T. The Teesside Cancer Family History Service: change management and innovation at cancer network level. Familial Cancer 2007 6:181–187

Endocrine genetics

Williams ST, Chatzikyriakou P, McGowan B, Velusamy A, Obholzer R, Carrol P, Akker S, Tufton N, Khatun A, Casey RT, Porteous M, Dyer R, Tan T, Wernig F, Chung T-T, Brady A, Kosicka-Slawinska M, Whitelaw M, Barwell J, Dorkins H, Lalloo F, Brennan P, Martin R, Mitchell AL, Carlow J, Harrison R, Hawkes L, Newell-Price J, Kershall A, Igbowe R, Schirwani S, Davidson R, Morrison P, Izatt L. SDHC pheochromocytoma and paraganglioma: a UK-wide case series. Clinc Endocrinol 2021 (in press)

Tee S, Mitchel A, Brennan P. One in a billion:  A patient with Marfan Syndrome and Familial Hypocalciuric Hypercalcaemia. Diabetes and Metabolism Case Reports 2021 (in press)

Andrews KA, Ascher DB, Pires D, Barnes DR, Vialard L, Casey R, Bradshaw N, Adlard J, Aylwin S, Brennan P, Brewer C, Cole T, Cook J, Davidson R, Donaldson A, Fryer A, Greenhalgh L, Hodgson SV, Irving R, Kumar A, Lalloo F, McConachie M, McConnell VPM, Morrison PJ, Murday V, Park S-M, Simpson HL, Snape K, Stewart S, Tomkins S, Wallis Y, Izatt L, Goudie D, Lindsay RS, Perry CG, Woodward ER, Antoniou A, Maher ER. Tumor risks and genotype-phenotype-proteotypes in patients with germline mutations in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD. J Med Genet 2018 Epub ahead of print: [07.02.2018]. doi:10.1136/jmedgenet-2017-105127

Owens M, Kivuva E, Quinn A, Brennan P, Caswell R, Allen HL, Vaidya B, Ellard S. SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from  multiple endocrine neoplasia type 2B. Clinical Endocrinology 2016;84:715-19

Brennan P. Breast cancer risk in MEN1 – a cancer genetics perspective. Clin Endocrinol 2014;82:327-329 (invited editorial)

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


Smedley D, Smith KR, Martin AR, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, Chan G, Williams HJ, Ratnaike T, Wei W, Stirrups K, Ibanez K, Moutsianas L, Wielscher M, Need A, Barnes MR, Vestito L, Buchanan J, Wordsworth S, Ashford S, Rehmstrom K, Li E, Fuller G, Twiss P, Spasic-Boskovic O, Halsall S, Floto RA, Poole K, Wagner A, Mehta SG, Gurnell M, Burrows N, James R, Penkett C, Dewhurst E, Gräf S, Mapeta R, Kasanicki M, Haworth A, Savage H, Babcock M, Reese MG, Bale M, Baple E, Boustred C, Brittain H, de Burca A, Bleda M, Devereau A, Halai D, Haraldsdottir E, Hyder Z, Kasperaviciute D, Patch C, Polychronopoulos D, Matchan A, Sultana R, Ryten M, Taylor Tavares AL, Tregidgo C, Turnbull C, Welland M, Wood S, Snow S, Williams E, Leigh S, Foulger RE, Daugherty LC, Niblock O, Leong IUS, Wright CF, Davies J, Crichton C, Welch J, Woods K, Abulhoul L, Aurora P, Bockenhauer D, Broomfield A, Cleary A, Lam T, Dattani M, Footitt E, Ganesan V, Grunewald S, Compeyrot-Lacassagne S, Muntoni F, Pilkington C, Quinlivan R, Thapar N, Wallis C, Wedderburn LR, Worth A, Bueser T, Compton C, Deshpande C, Fassihi h, Haque E, Izatt L, Josifova D, Mohammed S, Robert L, Rose S, Ruddy D, Sarkany R, Say G, Shaw AC, Wolejko A, Habib B, Burns G, Hunter S, Grocock RJ, Humphray SJ, Robinson PN, Haendel M, Simpson MA, Banka S, Clayton-Smith J, Douzgou S, Hall G, Thomas HB, O’Keefe RT, Michaelides M, Moore AT, Malka S, Pontikos N, Browning AC, Straub V, Gorman GS, Horvath R, Quinton R, Schaefer AF, Yu-Wai-Man P, Turnbull TM, McFarland R, Taylor RW, OConnor E, Yip J, Newland K, Morris HR, Polke J, Wood NW, Campbell C, Camps C, Gibson K, Koelling N, Lester T, Németh AH, Palles C, Patel C, Roy NBA, Sen A, Taylor J, Cacheiro P, Jacobsen JO, Seaby EG, Davison V, Chitty L, Douglas A, Naresh K, McMullan D, Ellard S, Temple IK, Mumford AD, Wilson G, Beales P, Bitner-Glindzicz M, Black G, Bradley JR, Brennan P, Burn J, Chinnery PF, Elliott P, Flinter F, Houlden H, Irving M, Newman W, Rahman S, Sayer JA, Taylor JC, Webster AR, Wilkie AOM, Ouwehand WH, Raymond FH, NIHR Bioresource, Chisholm J, Hill S, Bentley D, Scott RH, Fowler T, Rendon A, Caulfield M. The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare – A Preliminary Report. New Eng J Med 2021 (in press) 

Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, Chinnery PF, Dixon PH, Gale DP, James R, Koziell A, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Ormondroyd E, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Stark H, Tan RYY, Themistocleous AC, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Bentley DR; NIHR BioResource for the 100,000 Genomes Project, Kingston N, Walker N, Bradley JR, Ashford S, 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 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24. PMID: 32581362; PMCID: PMC7610553.

Wei WTuna SKeogh MJSmith KRAitman TJBeales PLBennett DLGale DPBitner-Glindzicz MAKBlack GCBrennan PElliott PFlinter FAFloto RAHoulden HIrving MKoziell AMaher ERMarkus HSMorrell NWNewman WGRoberts ISayer JASmith KGCTaylor JCWatkins HWebster ARWilkie AOMWilliamson CNIHR BioResource–Rare Diseases100,000 Genomes Project–Rare Diseases PilotAshford SPenkett CJStirrups KERendon AOuwehand WHBradley JRRaymond FLCaulfield MTurro EChinnery PF. Germline selection shapes human mitochondrial DNA diversity. Science.2019;364:6442

Leighton J, Stacey J, Brennan P. Genomic medicine: time to act. British Journal of Hospital Medicine 2018;79:426

Skin genetics

Ghaditi SJ, Brennan P, Calonje E, Carmichael AJ, Rajan N. Coinheritance of naevoid basal cell carcinoma syndrome and neurofibromatosis type 1 associated with an exceptional spectrum of tumours. Br J Dermatol 2020

Arefi M , Wilson V, Muthiah S, Zwolinski S, Bajwa D, Brennan P, Blasdale K, Bourn D, Burn J, Santibanez-Koref M, Rajan M. Diverse presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent to child transmission. Journal of the American Academy of Dermatology 2019 (e-pub ahead of print)


Brown S, Brennan P, Rajan N. Inherited skin tumour syndromes. CME Genomic Medicine. Clin Med 2017;17:562-7

Anderson-Fabry disease

McCloskey S, Brennan P, Sayer JA. Variable phenotypic presentations of renal involvement in Fabry disease: a case series. F1000Research 2018;7:356 (doi: 10.12688/f1000research.13708.1)

Brennan P, Parkes O. Case finding in Fabry disease: experience from the North of England. J Inherit Metab Dis 2014;37:103-107

Brady M, Montgomery E, Brennan P, Mohindra R, Sayer J. Diagnosing Fabry Disease – Delays and Difficulties within Discordant Siblings. QJM 2013; 108: 585-590

Sayer J, Haslam P, Brennan P. Parapelvic cysts leading to a diagnosis of Fabry disease. Kidney International 2008;74:1366




Azad J, Brennan P,Carmichael AJ. New mutation identified in adult onset erythropoeitic protoporphyria. Clinical and Experimental Dermatology 2013;38:601–605


Brennan P, Claber O, Brennan T, O'Dair L, Oliver J, Ball S, Miller M. Mainstreaming initiatives in the North East: innovation, leadership and a new role for tertiary services. J Med Genet 2011;48 (suppl)

Hodgson S, Lucassen A, Modell M, Qureshi N, Kai J, Kirk M, ElmslieF, Starey N, Brennan P, Goff S. 'Over the counter genetic testing'. What does it mean and is it relevant for primary care? British Journal of General Practice 2009;59: 283-287

Clarke A, Richards M, Kerzin-Storrar L, Halliday J, Young MA, Simpson SA, Featherstone K, Forrest K, Lucassen A, Morrison PJ, Quarrell OWJ, Stewart H, and collaborators. Genetic professionals’ reports of non-disclosure of genetic risk information within families Eur J Hum Genet 2005;13:556

Qureshi N, Bethea J, Modell B, Brennan P, Papageorgiou A, Raeburn JA, Hapgood R, Modell M. Collecting genetic information in primary care: evaluating a new family history tool. Family Practice 2005;22:663-669

Brennan P. (2018) Spectrum and Classification of Inherited Cardiovascular Disease. In: Kumar D., Elliott P. (eds) Cardiovascular Genetics and Genomics. Springer, Cham

Brennan P, Ball SG, Lennard TWJ. Familial endocrine disease: genetics, clinical presentation and management. In Lennard TJW (ed). Endocrine Surgery: A Companion to Specialist Surgical Practice. London, Saunders Ltd 2014 (5th ed)

Brennan P. Delivering a clinical cardiovascular service. In: Kumar D, Elliot P (eds) Clinical Cardiovascular Genetics: Principles and Practice. New York, Oxford University Press, 2010 (1st Ed)

Ball SG, Brennan P, Lennard TWJ. Familial endocrine disease: genetics, clinical presentation and management. In Lennard TJW (ed). Endocrine Surgery: A Companion to Specialist Surgical Practice. London, Saunders Ltd 2008 (4th ed)

Brennan P. Clinical Genetics Services: Principles and Practice. In: Polnay L (ed) Community Paediatrics 3rd edition. Edinburgh, Churchill Livingstone, 2002

Burn J, Richards S-J, Brennan P, Wyse R. Molecular genetic strategies in the investigation of congenital heart malformations. In: Clark EB, Takao A (Eds) : Developmental Cardiology: Morphogenesis and Function. Mount Kisco, NY, Futura Publishing Co., Inc., 1990


Garikano K, Dolzhenko E, Smith EK, Scott R, Thomas E, Baple E, Brittain H, Bourn D, Brennan P, Polke J, Houlden H, Rendon A, Caufield MJ, Eberle M, Tucci A. A clinical diagnostic pipeline to detect repeat expansions from whole genome sequencing in the 100,000 Genomes Project. European Society for Human Genetics, Milan 2018

Brown S, Ahmed J, Zwolinski S, Brennan P, Rajan N. A novel contiguous heterozygous deletion involving desmoglein 2 and desmocollin 2 genes is associated with arrythmogenic right ventricular cardiomyopathy (ARVC) and keratoderma. Medical Dermatology Meeting, Royal College of Physicians, 2016

Lee D, Lord S, Brennan P. The extent and consequences of diagnostic uncertainty in individuals assessed arrhythmogenic right ventricular cardiomyopathy. European Society of Cardiology conference, Munich 2012

Oliver J, Hammond A, Goodfellow J, Farrer M, Junejo S, Bourke J, Stewart M, Brennan P. The Impact of a Cardiac Genetic Nurse in a pre genetic screening clinic. 3rd Cardiovascular Genetics Symposium, Cardiff 2011

Ormondroyd L, McClymont C, McKeown P, McOsker J, Brennan P et al. UK GenetICC – Inherited Cardiac Conditions Register. British Society for Human Genetics Conference 2011

Arutchelvam V, Ball S, Dukhan K, Perros P, Brennan P. Exon dosage analysis in apparently isolated paraganglioma: recurrent paraganglioma associated with exon 3 duplication in the VHL gene. International Symposium on Phaeochromocytoma 2008

Sayer J, Haslam P, Brennan P. Parapelvic cysts leading to a diagnosis of Fabry disease. Fabry Disease Round Table, Rome 2007

Brennan P. Cardiac genetics: a gathering storm? Results of a national survey of cardiac genetic service provision. British Society for Human Genetics Conference 2006

Brennan P. The trouble with women: Fabry disease in females, and the end of X-linked recessive inheritance. International Lysosomal Storage Disease Symposium, Madrid 2004

Brennan P. Lethal skeletal dysplasia with gracile long bones: a further case. 9th Manchester Birth Defects Conference 2000

Brennan P. Glucocorticoid suppressible hyperaldosteronism. British Society for  Human Genetics Conference 2000 [J Med Genet 2000;37:S63]

Brennan P. Position effect, PAX6 and aniridia. British Society for Human Genetics Conference 2000 [J Med Genet 2000;37:S59]

Brennan P. Hypoplastic left heart syndrome and postaxial polydactyly in siblings: a new syndrome? 8th Manchester Birth Defects Conference 1999

Brennan P, Holloway S, Little J, Burn J. Tetralogy of Fallot: a triad of susceptibility genes? British Society for Human Genetics Conference 1997 [J Med Genet 1997;34:S64]

Brennan P, Pritchard DJ, Richards S-J, Burn J. Identification of candidate genes for cardiac malformations. British Society for Human Genetics Conference 1989