Paul Brennan
Consultant in Clinical Genetics & Genomics

Cardiovascular genetics

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Loeys B, Meester J, Hebert A, Bastiaansen M, Rabaut L, Bastianen J, Boeckx N, Ashcroft K, Atwal P, Benichou A, Billon C, Blankensteijn J, Brennan P, et al. Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome. npj Genomic Medicine 2024 (in press)

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Greene D, Genomics England Research Consortium, Pirri D, Frudd K, Sackey E, Al-Owain M, Giese APJ, Ramzan K, Riaz S, Yamanaka I, Boeckx N, Thys C, Gelb B, Brennan P et al. Genetic association analysis of 77,539 genomes reveals rare disease etiologies. Nat Med 2023:29, 679–688. https://doi.org/10.1038/s41591-023-02211-z 

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Schirwani S, van Dijk FS, Cauldwell M, Harrison RE, Kraus A, Brennan P, Ghali N, Johnson D, Sobey G. Amniotic band sequence in vascular Ehlers-Danlos Syndrome (EDS): Experience of the EDS National Diagnostic Services in the UK. Eur J Med Genet 2022;65:104952

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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

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Velicki L; Jakovljevic DG; Preveden A; Golubovic M; Bjelobrk M; Ilic A; Stojsic S; Barlocco F; Tafelmeier M; Okwose N; Tesic M; Brennan P; Popovic D; Ristic A; MacGowan GA; Filipovic N; Maier LS; Olivotto I. Genetic determinants of clinical phenotype in hypertrophic cardiomyopathy. BMC Cardiovascular Disorders 2020;20(1):516 et seq

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Okwose NC, Avery L, O’Brien N, Cassidy S, Charman SJ, Bailey K, Velicki L, Olivotto I, Brennan P, MacGowan GA, Jakovljevic DG. Acceptability, Feasibility and Preliminary Evaluation of a Novel, Personalised, Home-Based Physical Activity Intervention for Chronic Heart Failure (Active-at-Home-HF): a Pilot Study. Sports Med - Open 5, 45 (2019). https://doi.org/10.1186/s40798-019-0216-x

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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 

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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

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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. https://www.researchgate.net/publication/340609874

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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

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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

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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 doi.org/10.1093/europace/euw433 Published online 24 March 2017

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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

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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

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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.

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

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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)

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

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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

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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

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

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

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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

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Cancer genetics

 

Woodward ER, Hyder Z, Harris E, Brennan P, Nimri O, Brennan B, Schlecht H, Burghel GJ, Evans DG.  Somatic Mosaicism Causing Li Fraumeni Syndrome. (submitted)

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Awadelkarim B, Brennan P, Nayar M. Incidence and management of extra colonic manifestations in Familial adenomatous polyposis:  A tertiary centre experience. British Society of Gastroenterology Conference 2022 (abs).

 

Awadelkarim B, Charnley R, Brennan P, Leeds J, Oppong K, Nayar M. Surveillance in Familial adenomatous polyposis - Adherence to the ESGE guidelines: A Tertiary centre experience. British Society of Gastroenterology Conference 2022 (abs).

 

Barnes DR, Silvestri V, Leslie G, McGuffog L, Dennis J, Yang X, Adlard J, Agnarsson BA, Ahmed M, Aittomäki K, Andrulis IL, Arason A, Arnold N, Auber B, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Barwell J, Belotti M, Benitez J, Berthet P, Boonen SE, Borg Å, Bozsik A, Brady A, Brennan P, Brewer C, Brunet J, Bucalo A, Buys SS, Caldés T, Caligo MA, Campbell I, Cassingham H, Lotte Christensen L, Cini G, Claes KBM; GEMO Study Collaborators; EMBRACE Collaborators, Cook J, Coppa A, Cortesi L, Damante G, Darder E, Davidson R, de la Hoya M, De Leeneer K, de Putter R, Del Valle J, Diez O, Chun Ding Y, Domchek SM, Donaldson A, Eason J, Eeles R, Engel C, Gareth Evans D, Feliubadaló L, Fostira F, Frone M, Frost D, Gallagher D, Gehrig A, Giraud S, Glendon G, Godwin AK, Goldgar DE, Greene MH, Gregory H, Gross E, Hahnen E, Hamann U, Hansen TVO, Hanson H, Hentschel J, Horvath J; KConFab Investigators; HEBON Investigators, Izatt L, Izquierdo A, James PA, Janavicius R, Birk Jensen U, Johannsson OT, John EM, Kramer G, Kroeldrup L, Kruse TA, Lautrup C, Lazaro C, Lesueur F, Lopez-Fernández A, Mai PL, Manoukian S, Matrai Z, Matricardi L, Maxwell KN, Mebirouk N, Meindl A, Montagna M, Monteiro AN, Morrison PJ, Muranen TA, Murray A, Nathanson KL, Neuhausen SL, Nevanlinna H, Nguyen-Dumont T, Niederacher D, Olah E, Olopade OI, Palli D, Parsons MT, Sokilde Pedersen I, Peissel B, Perez-Segura P, Peterlongo P, Petersen AH, Pinto P, Porteous ME, Pottinger C, Angel Pujana M, Radice P, Ramser J, Rantala J, Robson M, Rogers MT, Rønlund K, Rump A, María Sánchez de Abajo A, Shah PD, Sharif S, Side LE, Singer CF, Stadler Z, Steele L, Stoppa-Lyonnet D, Sutter C, Yen Tan Y, Teixeira MR, Teulé A, Thull DL, Tischkowitz M, Toland AE, Tommasi S, Toss A, Trainer AH, Tripathi V, Valentini V, van Asperen CJ, Venturelli M, Viel A, Vijai J, Walker L, Wang-Gohrke S, Wappenschmidt B, Whaite A, Zanna I, Offit K, Thomassen M, Couch FJ, Schmutzler RK, Simard J, Easton DF, Chenevix-Trench G, Antoniou AC, Ottini L; Consortium of Investigators of Modifiers of BRCA1 and BRCA2. Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores. J Natl Cancer Inst. 2021 Jul 28:djab147. doi: 10.1093/jnci/djab147. Epub ahead of print. PMID: 34320204.

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Barnes DR, Rookus MA, McGuffog L, Leslie G, Mooij TM, Dennis J, Mavaddat N, Adlard J, Ahmed M, Aittomaki K, Andrieu N, Andrulis IL, Arnold N, Arun BK, Azzollini J, Balmana J, Barkardottir RB, Barrowdale D, Benitez J, Berthet P, Bialkowska K, Blanco AM, Blok MJ, Bonanni B, Boonen SE, Borg A, Bozsik A, Bradbury AR, Brennan 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

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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 http://dx.doi.org/10.1136/jmedgenet-2020-106876

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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 https://doi.org/10.1038/s41416-019-0631-2 

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Rosenthal AN, Fraser LSM, Philpott S, Manchanda R, Burnell M, Badman P, Hadwin R, Rizzuto 1, Benjamin E, Singh N, Evans DG, Eccles DM, Ryan A, Liston R, Dawnay A, Ford J, Gunu R, Mackay J, Skates SJ, Menon U, Jacobs 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

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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

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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

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Endocrine genetics

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Maher E, Adlard J, Barwell J, Brady A, Brennan P, Cook J, Crawford G, Dabir T, Davidson R, Dyer R, Harrison R, Forde C, Lalloo F, Halliday D, Hanson H, Snape K, Hay E, Higgs J, Jones M, Miedzybrodzka Z, Ong KR, Pelz F, Ruddy D, Whitworth J, Sandford R. Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service. British Journal of Cancer 2022;26:1339 – 1345

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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)

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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)

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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

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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

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

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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

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Genomics

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Pagnamenta AT, Yu J, Walker S, Noble AJ, Lord J, Dutta P, Hashim M, Camps C, Green H, Devaiah S, Nashef L, Parr J, Fratter C, Hussein I, Lindsay SJ, Lalloo F, Banos-Pinero B, Evans D, Mallin L, Waite A, Evans J, Newman A, Allen Z, Perez-Becerril C, Ryan G, Hart R, Taylor J,  Bedenham T,  Clement E, Blair E, Hay E,   Forzano F,  Higgs J, Canham N, Majumdar A, McEntagart M, Lahiri N, Stewart H,  Smithson S, Calpena E, Jackson A,  Banka S, Titheradge H, McGowan R, Rankin J, Shaw-Smith C, Evans DG, Burghel GJ, Smith MJ, Anderson E, Madhu R, Firth H,  Ellard S,  Brennan P,  Anderson C, Taupin D, Rogers MT, Cook JA, Durkie M, East JE, Fowler D, Wilson L, Igbokwe R, Gardham A, Tomlinson I, Baralle D,  Uhlig HH, Taylor JC. The impact of inversions across 33,924 families with rare disease from a national genome sequencing project, Am J Hum Genet May 21, 2024. DOI:https://doi.org/10.1016/j.ajhg.2024.04.018

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Yu J, Pagnamenta AT, Walker S, Banos-Pinero B, Rogers MT5, Cook J, Brennan P, Devaiah S, Risby P, Hart R, Lalloo F, Genomics England Research Consortium, Taylor JC. The impact of germline inversions disrupting tumour suppressor genes in participants from the 100,000 Genomes Project. Genomics England Research Summit 2022 (abs)

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Kristina Ibañez, James Polke, R Tanner Hagelstrom, Egor Dolzhenko, Dorota Pasko, Ellen Rachel Amy Thomas, Louise C Daugherty, Dalia Kasperaviciute, Katherine R Smith, WGS for neurological diseases group, Zandra C Deans, Sue Hill, Tom Fowler, Richard H Scott, John Hardy, Patrick F Chinnery, Henry Houlden, Augusto Rendo, Mark J Caulfield, Michael A Eberle, Ryan J Taft, Arianna Tucci PhD. Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study. Lancet Neurology 2022;21:234-245. DOI: https://doi.org/10.1016/S1474-4422(21)00462-2

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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. N Engl J Med 2021; 385:1868-1880. DOI: 10.1056/NEJMoa2035790 

 

Ibanez K, Polke J, Hagelstrom T, Dolzhenko E, Pasko D, Thomas E, Daugherty L, Kasperaviciute D, McDonagh EM, Smith KR, Martin AR, Polychronopoulos D, Angus-Leppan H, Bhatia KP, Davison JE, Festenstein R, Fratta P, Giunti P, Howard R, Prasad Korlipara LV, Laurá M, McEntagart M, Menzies L, Morris H, Reilly MM, Robinson R, Rosser E, Faravelli F, Schrag A, Schott JM, Warner TT, Wood NW, Bourn D, Eggleton K, Labrum R, Twiss P, Abbs S, Santos L, Almheiri G, Sheikh I, Vandrovcova J, Patch C, Taylor Tavares AL, Hyder Z, Need A, Brittain H, Baple E, Moutsianas L, Deshpande V, Perry DL, Ajay S, Chawla A, Rajan V, Oprych K, Chinnery PF, Douglas A, Wilson G, Ellard S, Temple K, Mumford A, McMullan D, Naresh K, Flinter F, Taylor JC, Greenhalgh L, Newman W, Brennan P, Sayer JA, Raymond FL, Chitty LS, Deans ZC, Hill S, Fowler T, Scott R, Houlden H, Rendon A, Caulfield MJ, Eberle MA, Taft RJ, Tucci A, Genomics England Research Consortium. Whole genome sequencing for diagnosis of neurological repeat expansion disorders.  bioRxiv 2020:10.1101/2020.11.06.371716. PPR:PPR235530.

 

Thaventhiran JED, Lango Allen H, Burren OS ...  Primary Immunodeficiency Consortium for the NIHR Bioresource... et al. Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature 583, 90–95 (2020). https://doi.org/10.1038/s41586-020-2265-1

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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.

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Wei W, Tuna S, Keogh MJ, Smith KR, Aitman TJ, Beales PL, Bennett DL, Gale DP, Bitner-Glindzicz MAK, Black GC, Brennan P, Elliott P, Flinter FA, Floto RA, Houlden H, Irving M, Koziell A, Maher ER, Markus HS, Morrell NW, Newman WG, Roberts I, Sayer JA, Smith KGC, Taylor JC, Watkins H, Webster AR, Wilkie AOM, Williamson C; NIHR BioResource–Rare Diseases; 100,000 Genomes Project–Rare Diseases Pilot, Ashford S, Penkett CJ, Stirrups KE, Rendon A, Ouwehand WH, Bradley JR, Raymond FL, Caulfield M, Turro E, Chinnery PF. Germline selection shapes human mitochondrial DNA diversity. Science 2019;364:6442

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

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Skin genetics

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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 https://doi.org/10.1111/bjd.19324

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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

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Anderson-Fabry disease

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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)

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

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

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

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Other

 

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)

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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

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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

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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

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