Jonathan Berg

+44 (0)1382 383481
Senior Lecturer and Honorary Consultant in Clinical Genetics

Publications

Maniam, P, Zhou, K, Lonergan, M, Berg, J, Goudie, D & Newey, P 2018,

'Pathogenicity and penetrance of germline SDHA variants in pheochromocytoma and paraganglioma (PPGL)' Journal of the Endocrine Society, vol. 2, no. 7, pp. 806-816.
https://doi.org/10.1210/js.2018-00120

Research output: Contribution To Journal



Rose, AM, Krishan, A, Chakarova, CF, Moya, L, Chambers, S, Hollands, M, Illingworth, JC, Williams, SMG, James, HE, Shah, AZ, Palmer, CNA, Chakravarti, A, Berg, JN, Batra, J & Bhattacharya, SS 2018,

'MSR1 repeats modulate gene expression and affect risk of breast and prostate cancer' Annals of Oncology.
https://doi.org/10.1093/annonc/mdy082

Research output: Contribution To Journal



Anderson, AS, Dunlop, J, Gallant, S, Macleod, M, Miedzybrodska, Z, Mutrie, N, O’Carroll, RE, Stead, M, Steele, RJC, Taylor, RS, Vinnicombe, S & Berg, J 2018,

'A feasibility study to assess the impact of a lifestyle intervention (‘Living WELL’) in people having an assessment of their family history of colorectal or breast cancer' BMJ Open, vol. 8, no. 2, e019410, pp. e019410.
https://doi.org/10.1136/ bmjopen-2017-019410

Research output: Contribution To Journal



Littlejohn, LA, Gibbs, J, Jordan, LB, Miedzybrodzka, ZH, Bell, C, Goudie, D, Dunlop, J & Berg, JN 2018,

'Assessing the effectiveness of NICE criteria for stratifying breast cancer risk in a UK cohort' European Journal of Human Genetics.
https://doi.org/10.1038/s41431-017-0072-4

Research output: Contribution To Journal



Newey, PJ, Berg, JN, Zhou, K, Palmer, CNA & Thakker, RV 2017,

'Utility of Population-Level DNA Sequence Data in the Diagnosis of Hereditary Endocrine Disease' Journal of the Endocrine Society, vol. 1, no. 12, pp. 1507-1526.
https://doi.org/10.1210/js.2017-00330

Research output: Contribution To Journal



Küry, S, van Woerden, GM, Besnard, T, Proietti Onori, M, Latypova, X, Towne, MC, Cho, MT, Prescott, TE, Ploeg, MA, Sanders, SJ, Stessman, HAF, Pujol, A, Distel, B, Robak, LA, Bernstein, JA, Denommé-Pichon, A-S, Lesca, G, Sellars, EA, Berg, J, Carré, W, Busk, ØL, van Bon, BWM, Waugh, JL, Deardorff, M, Hoganson, GE, Bosanko, KB, Johnson, DS, Dabir, T, Holla, ØL, Sarkar, A, Tveten, K, de Bellescize, J, Braathen, GJ, Terhal, PA, Grange, DK, van Haeringen, A, Lam, C, Mirzaa, G, Burton, J, Bhoj, EJ, Douglas, J, Santani, AB, Nesbitt, AI, Helbig, KL, Andrews, MV, Begtrup, A, Tang, S, van Gassen, KLI, Juusola, J, Foss, K & Undiagnosed Diseases Network, GEM HUGO, Deciphering Developmental Disorders Study 2017,

'De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability' American Journal of Human Genetics, vol. 101, no. 5, pp. 768-788.
https://doi.org/10.1016/j.ajhg.2017.10.003

Research output: Contribution To Journal



Balasubramanian, M, Willoughby, J, Fry, AE, Weber, A, Firth, HV, Deshpande, C, Berg, JN, Chandler, K, Metcalfe, KA, Lam, W, Pilz, D, Tomkins, S & DDD Study 2017,

'Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature' Journal of Medical Genetics, vol. 54, no. 8, pp. 537-543.
https://doi.org/10.1136/jmedgenet-2016-104360

Research output: Contribution To Journal



West, J, Ogston, S, Berg, J, Palmer, C, Fleming, C, Kumar, V & Foerster, J 2017,

'HLA-Cw6-positive patients with psoriasis show improved response to methotrexate treatment' Clinical and Experimental Dermatology, vol. 42, no. 6, pp. 651-655.
https://doi.org/10.1111/ced.13100

Research output: Contribution To Journal



Yates, TM, Turner, CLS, Firth, HV, Berg, J & Pilz, DT 2017,

'Baraitser-Winter cerebrofrontofacial syndrome' Clinical Genetics, vol. 92, no. 1, pp. 3-9.
https://doi.org/10.1111/cge.12864

Research output: Contribution To Journal



Anderson, A, Caswell, S, Macleod, M, Steele, R, Berg, J, Dunlop, J, Stead, M, Eadie, D & O'Carroll, RE 2017,

'Health behaviors and their relationship with disease control in people attending genetic clinics with a family history of breast or colorectal cancer' Journal of Genetic Counseling, vol. 26, no. 1, pp. 40-51.
https://doi.org/10.1007/s10897-016-9977-2

Research output: Contribution To Journal



Weinsheimer, S, Bendjilali, N, Nelson, J, Guo, DE, Zaroff, JG, Sidney, S, Mc Culloch, CE, Al-Shahi Salman, R, Berg, JN, Koeleman, BPC, Simon, M, Bostroem, A, Fontanella, M, Sturiale, CL, Pola, R, Puca, A, Lawton, MT, Young, WL, Pawlikowska, L, Klijn, CJM, Kim, H & on behalf of the GEN-AVM Consortium 2016,

'Genome-wide association study of sporadic brain arteriovenous malformations' Journal of Neurology, Neurosurgery & Psychiatry, vol. 87, no. 9, pp. 916-923.
https://doi.org/10.1136/jnnp-2015-312272

Research output: Contribution To Journal



Kharbanda, M, Kannike, K, Lampe, A, Berg, J, Timmusk, T & Sepp, M 2016,

'Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome' European Journal of Medical Genetics, vol. 59, no. 6-7, pp. 310-314.
https://doi.org/10.1016/j.ejmg.2016.04.003

Research output: Contribution To Journal



Manoharan, A, Griffin, B, Lipworth, J, Berg, J, Andrew, N, Jackson, C & Lipworth, B 2015,

'β2-Adrenergic receptor Gly16Arg polymorphism and impaired asthma control in corticosteroid-treated asthmatic adults' Annals of Allergy, Asthma & Immunology, vol. 114, no. 5, pp. 421-423.
https://doi.org/10.1016/j.anai.2015.01.017

Research output: Contribution To Journal



The Deciphering Developmental Disorders Study 2015,

'Large-scale discovery of novel genetic causes of developmental disorders' Nature, vol. 519, no. 7542, pp. 223-228.
https://doi.org/10.1038/nature14135

Research output: Contribution To Journal



Letteboer, TGW, Benzinou, M, Merrick, C, Quigley, D, Zhau, K, Kim, IJ, To, MD, Jablons, D, Van Amstel, JKP, Westermann, C, Giraud, S, Dupuis-Girod, S, Lesca, G, Berg, J, Balmain, A & Akhurst, RJ 2015,

'Genetic variation in the functional ENG allele inherited from the non-affected parent associates with presence of pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia 1 (HHT1) and may influence expression of PTPN14' Frontiers in Genetics, vol. 6, 67.
https://doi.org/10.3389/fgene.2015.00067

Research output: Contribution To Journal



Spinelli, L, Black, FM, Berg, JN, Eickholt, BJ & Leslie, NR 2015,

'Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes' Journal of Medical Genetics, vol. 52, no. 2, pp. 128-134.
https://doi.org/10.1136/jmedgenet-2014-102803

Research output: Contribution To Journal



Ibrahim, A, Barnes, DR, Dunlop, J, Barrowdale, D, Antoniou, AC & Berg, JN 2014,

'Attenuated familial adenomatous polyposis manifests as autosomal dominant late-onset colorectal cancer' European Journal of Human Genetics, vol. 22, no. 11, pp. 1330-1333.
https://doi.org/10.1038/ejhg.2014.20

Research output: Contribution To Journal



Clark, GR, Sciacovelli, M, Gaude, E, Walsh, DM, Kirby, G, Simpson, MA, Trembath, RC, Berg, JN, Woodward, ER, Kinning, E, Morrison, PJ, Frezza, C & Maher, ER 2014,

'Germline FH mutations presenting with pheochromocytoma' Journal of Clinical Endocrinology and Metabolism, vol. 99, no. 10, pp. E2046-E2050.
https://doi.org/10.1210/jc.2014-1659

Research output: Contribution To Journal



Ibrahim, A, Kirby, G, Hardy, C, Dias, RP, Tee, L, Lim, D, Berg, J, Mac Donald, F, Nightingale, P & Maher, ER 2014,

'Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects' Clinical Epigenetics, vol. 6, 11.
https://doi.org/10.1186/1868-7083-6-11

Research output: Contribution To Journal



Ramos, EM, Din-Lovinescu, C, Berg, JS, Brooks, LD, Duncanson, A, Dunn, M, Good, P, Hubbard, TJP, Jarvik, GP, O'Donnell, C, Sherry, ST, Aronson, N, Biesecker, LG, Blumberg, B, Calonge, N, Colhoun, HM, Epstein, RS, Flicek, P, Gordon, ES, Green, ED, Green, RC, Hurles, M, Kawamoto, K, Knaus, W, Ledbetter, DH, Levy, HP, Lyon, E, Maglott, D, Mc Leod, HL, Rahman, N, Randhawa, G, Wicklund, C, Manolio, TA, Chisholm, RL & Williams, MS 2014,

'Characterizing genetic variants for clinical action' American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol. 166C, no. 1, pp. 93-104.
https://doi.org/10.1002/ajmg.c.31386

Research output: Contribution To Journal



Hanning, KA, Steel, M, Goudie, D, Mc Leish, L, Dunlop, J, Myring, J, Sullivan, F, Berg, J, Humphris, G & Ozakinci, G 2014,

'Why do women not return family history forms when referred to breast cancer genetics services? a mixed-method study' Health Expectations.
https://doi.org/10.1111/hex.12166

Research output: Contribution To Journal



Ganesan, V, Robertson, F & Berg, J 2013,

'Neurovascular screening in hereditary haemorrhagic telangiectasia: dilemmas for the paediatric neuroscience community' Developmental Medicine and Child Neurology, vol. 55, no. 5, pp. 405-407.
https://doi.org/10.1111/j.1469-8749.2012.04425.x

Research output: Contribution To Journal



Mc Leish, L, Reis, MM, Stewart, C, Goudie, DR, Berg, JN, Harvie, M, Hanning, KA, Vysny, H & Steel, CM 2012,

'Lifestyle Changes in Women at Genetic Risk of Breast Cancer: an Observational Study' International Journal of Behavioral Medicine, vol. 20, no. 4, pp. 514-521.
https://doi.org/10.1007/s12529-012-9263-0

Research output: Contribution To Journal



Turnbull, C, Seal, S, Renwick, A, Warren-Perry, M, Hughes, D, Elliott, A, Pernet, D, Peock, S, Adlard, JW, Barwell, J, Berg, J, Brady, AF, Brewer, C, Brice, G, Chapman, C, Cook, J, Davidson, R, Donaldson, A, Douglas, F, Greenhalgh, L, Henderson, A, Izatt, L, Kumar, A, Lalloo, F, Miedzybrodzka, Z, Morrison, PJ, Paterson, J, Porteous, M, Rogers, MT, Shanley, S, Walker, L, Ahmed, M, Eccles, D, Evans, DG, Donnelly, P, Easton, DF, Stratton, MR, Rahman, N & EMBRACE, Breast Canc Susceptibility 2012,

'Gene-gene interactions in breast cancer susceptibility' Human Molecular Genetics, vol. 21, no. 4, pp. 958-962.
https://doi.org/10.1093/hmg/ddr525

Research output: Contribution To Journal



Hipwell, JH, Griffin, LD, Whelehan, PJ, Song, W, Zhang, X, Lesniak, JM, Vinnicombe, S, Evans, A, Berg, J & Hawkes, DJ 2012,

Characterizing breast phenotype with a novel measure of fibroglandular structure. in ADA Maidment, PR Bakic & S Gavenonis (eds), Breast Imaging: 11th International Workshop, IWDM 2012, Philadelphia, PA, USA, July 8-11, 2012. Proceedings. Lecture notes in computer science, vol. 7361, Springer , Berlin, pp. 181-188, 11th International Workshop on Breast Imaging, Philadelphia, United States, 8/07/12.
https://doi.org/10.1007/978-3-642-31271-7_24

Research output: Contribution To Book Anthology



Loveday, C, Turnbull, C, Ramsay, E, Hughes, D, Ruark, E, Frankum, JR, Bowden, G, Kalmyrzaev, B, Warren-Perry, M, Snape, K, Adlard, JW, Barwell, J, Berg, J, Brady, AF, Brewer, C, Brice, G, Chapman, C, Cook, J, Davidson, R, Donaldson, A, Douglas, F, Greenhalgh, L, Henderson, A, Izatt, L, Kumar, A, Lalloo, F, Miedzybrodzka, Z, Morrison, PJ, Paterson, J, Porteous, M, Rogers, MT, Shanley, S, Walker, L, Eccles, D, Evans, DG, Renwick, A, Seal, S, Lord, CJ, Ashworth, A, Reis-Filho, JS, Antoniou, AC, Rahman, N & Breast Canc Susceptibility 2011,

'Germline mutations in RAD51D confer susceptibility to ovarian cancer' Nature Genetics, vol. 43, no. 9, pp. 879-882.
https://doi.org/10.1038/ng.893

Research output: Contribution To Journal



Martin, AJ, Grant, A, Ashfield, AM, Palmer, CN, Baker, L, Quinlan, PR, Purdie, CA, Thompson, AM, Jordan, LB & Berg, JN 2011,

'FGFR2 protein expression in breast cancer: nuclear localisation and correlation with patient genotype' BMC Research Notes, vol. 4.
https://doi.org/10.1186/1756-0500-4-72

Research output: Contribution To Journal



Eadie, A, Whelehan, P, Baker, L, Berg, J & Evans, A 2011,

'Improving the validity of breast density assessment' Breast Cancer Research, vol. 13, no. S1, P24, pp. S8.
https://doi.org/10.1186/bcr2976

Research output: Contribution To Journal



Hall, CEJ, Cunningham, JJP, Hislop, RG & Berg, JN 2010,

'A boy with supernumerary mosaic trisomy 19q, involving 19q13.11-19q13.2, with macrocephaly, obesity and mild facial dysmorphism' Clinical Dysmorphology, vol. 19, no. 4, pp. 218-221.
https://doi.org/10.1097/MCD.0b013e32833bff06

Research output: Contribution To Journal



Porteous, MEM & Berg, JN 2010,

Hereditary hemorrhagic telangiectasia. in SB Cassidy & JE Allanson (eds), Management of genetic syndromes. 3rd edn, Wiley-Blackwell, Oxford, pp. 429-440.
https://doi.org/10.1002/9780470893159.ch49

Research output: Contribution To Book Anthology



Wouters, V, Limaye, N, Uebelhoer, M, Irrthum, A, Boon, LM, Mulliken, JB, Enjolras, O, Baselga, E, Berg, J, Dompmartin, A, Ivarsson, SA, Kangesu, L, Lacassie, Y, Murphy, J, Teebi, AS, Penington, A, Rieu, P & Vikkula, M 2010,

'Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects' European Journal of Human Genetics, vol. 18, no. 4, pp. 414-420.
https://doi.org/10.1038/ejhg.2009.193

Research output: Contribution To Journal



Zieba, A, Wahlby, C, Hjelm, F, Jordan, L, Berg, J, Landegren, U & Pardali, K 2010,

'Bright-Field Microscopy Visualization of Proteins and Protein Complexes by In Situ Proximity Ligation with Peroxidase Detection' Clinical Chemistry, vol. 56, no. 1, pp. 99-110.
https://doi.org/10.1373/clinchem.2009.134452

Research output: Contribution To Journal



Anderson, E, Berg, J, Black, R, Bradshaw, N, Campbell, J, Cetnarskyj, R, Drummond, S, Davidson, R, Dunlop, J, Fordyce, A, Gibbons, B, Goudie, D, Gregory, H, Hanning, K, Holloway, S, Longmuir, M, Mc Leish, L, Murday, V, Miedzybrodska, Z, Nicholson, D, Pearson, P, Porteous, M, Reis, M, Slater, S, Smith, K, Smyth, E, Snadden, L, Steel, M, Stirling, D, Watt, C, Whyte, C & Young, D 2008,

'Predicting breast cancer risk: implications of a "weak" family history' Familial Cancer, vol. 7, no. 4, pp. 361-366.
https://doi.org/10.1007/s10689-008-9197-5

Research output: Contribution To Journal



Lynch, N, Choy, AM & Berg, J 2008,

'Inherited cardiac disease - what are the workload implications ?' Journal of Medical Genetics, vol. 45, pp. S53-S53.

Research output: Contribution To Journal



Hanning, K, Ozakinci, G, Mc Leish, L, Dunlop, J, Myring, J, Goudie, D, Sullivan, F, Berg, J & Steel, M 2008,

'Do family history questionnaires obstruct access to cancer genetic services?' Journal of Medical Genetics, vol. 45, 1.55, pp. S58-S58.

Research output: Contribution To Journal



Berg, JN & Dunlop, J 2008,

'Clinical cancer genetics' Journal of the Royal College of Physicians of Edinburgh, vol. 38, no. 3, pp. 236-241.

Research output: Contribution To Journal



Das, J, Berg, J, Goudie, D, Dunlop, J, Mc Leish, L & Myring, J 2008,

'Accuracy of referral letters and family history questionnaires in ascertainment of the risk of familial cancer' Journal of Medical Genetics, vol. 45, 5.08, pp. S115.

Research output: Contribution To Journal



Anderson, E, Berg, J, Black, R, Bradshaw, N, Campbell, J, Carnaghan, H, Cetnarkyj, R, Drummond, S, Davidson, R, Dunlop, J, Fordyce, A, Gibbons, B, Goudie, D, Gregory, H, Holloway, S, Longmuir, M, Mc Leish, L, Murday, V, Miedzybrodska, Z, Nicholson, D, Pearson, P, Porteous, M, Reis, M, Slater, S, Smith, K, Smyth, E, Snadden, L, Steel, M, Stirling, D, Watt, C, Whyte, C & Young, D 2008,

'Prospective surveillance of women with a family history of breast cancer: auditing the risk threshold' British Journal of Cancer, vol. 98, no. 4, pp. 840-844.
https://doi.org/10.1038/sj.bjc.6604155

Research output: Contribution To Journal



Holloway, SM, Wilcox, DE, Wilcox, A, Dean, JCS, Berg, JN, Goudie, DR, Denvir, MA & Porteous, MEM 2008,

'Life expectancy and death from cardiomyopathy amongst carriers of Duchenne and Becker muscular dystrophy in Scotland' Heart, vol. 94, no. 5, pp. 633-636.
https://doi.org/10.1136/hrt.2007.125948

Research output: Contribution To Journal



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Activities

11th International Workshop on Breast Imaging

Role: Participant
Activity: Participation in workshop, seminar, course

9 7 2012