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  • Zosia Miedzybrodzka

22 Years of predictive testing for Huntington’s disease: the experience of the UK Huntington’s Prediction Consortium

UK Huntington’s Disease Prediction Consortium & Quarrell, O. W., Oct 2016, In : EJHG : European journal of human genetics : the official journal of the European Society of Human Genetics. . 24, 10, p. 1396-1402 7 p.

Research output: Contribution to journalArticle

Open Access
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25 Citations (Scopus)
21 Downloads (Pure)

27 years of prenatal diagnosis for Huntington disease in the United Kingdom

Piña-Aguilar, R. E., Simpson, S. A., Alshatti, A., Clarke, A., Craufurd, D., Dorkins, H., Doye, K., Lahiri, N., Lashwood, A., Lynch, C., Miller, C., Morton, S., O’Driscoll, M., Quarrell, O. W., Rae, D., Strong, M., Tomlinson, C., Turnpenny, P., Miedzybrodzka, Z. & UK HD Predictive Testing Consortium, Jul 2019, In : Genetics in Medicine. 21, p. 1639–1643 5 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)

3D MRI analysis of the lower legs of treated idiopathic congenital talipes equinovarus (clubfoot)

Duce, S. L., D'Alessandro, M., Du, Y., Jagpal, B., Gilbert, F. J., Crichton, L., Barker, S., Collinson, J. M. & Miedzybrodzka, Z., 30 Jan 2013, In : PloS ONE. 8, 1, 10 p., e54100.

Research output: Contribution to journalArticle

Open Access
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13 Citations (Scopus)
6 Downloads (Pure)

8OHdG as a marker for Huntington disease progression

Long, J. D., Matson, W. R., Juhl, A. R., Leavitt, B. R., Paulsen, J. S., PREDICT-HD Investigators And Coordinators Of The Huntington Study Group & Miedzybrodzka, Z., Jun 2012, In : Neurobiology of Disease. 46, 3, p. 625-634 10 p.

Research output: Contribution to journalArticle

37 Citations (Scopus)

A case-note review of continued pregnancies found to be at a high risk of Huntington’s disease: considerations for clinical practice

Wadrup, F., Holden, S., MacLeod, R., Miedzybrodzka, Z., Németh, A. H., Owens, S., Pasalodos, S., Quarrell, O., Clarke, A. J. & on behalf of the UK Huntington’s Disease Predictive Testing Consortium, 19 Mar 2019, In : European Journal of Human Genetics. 27, p. 1215-1224 10 p.

Research output: Contribution to journalArticle

An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort

Kerr, S. M., Klaric, L., Halachev, M., Hayward, C., Boutin, T. S., Meynert, A. M., Semple, C. A., Tuiskula, A. M., Swan, H., Santoyo-Lopez, J., Vitart, V., Haley, C., Dean, J., Miedzybrodzka, Z., Aitman, T. J. & Wilson, J. F., 29 Jul 2019, In : Scientific Reports. 9, 11 p., 10964.

Research output: Contribution to journalArticle

Open Access
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1 Citation (Scopus)
3 Downloads (Pure)

A nationwide screening programme for familial hypercholesterolaemia in Scotland using existing services

Miedzybrodzka, Z., Bell, C., Boyers, D., Brown, C., Kelly, K., Tennant, S., Walker, S., Finnie, R., van Mourik, M., Pearson, P., Slater, S., Berg, J., Hailey, H., Gregory, H. & Simpson, W., Sep 2012, In : Journal of Medical Genetics. 49, Supplement 1, p. S115 1 p.

Research output: Contribution to journalAbstract

Antibody deficiency in Rubinstein-Taybi syndrome

Herriot, R. & Miedzybrodzka, Z., Mar 2016, In : Clinical Genetics. 89, 3, p. 355-358 4 p.

Research output: Contribution to journalArticle

2 Citations (Scopus)
2 Downloads (Pure)

Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study

Jakubowska, A., Rozkrut, D., Antoniou, A., Hamann, U., Scott, R. J., McGuffog, L., Healy, S., Sinilnikova, O. M., Rennert, G., Lejbkowicz, F., Flugelman, A., Andrulis, I. L., Glendon, G., Ozcelik, H., Thomassen, M., Paligo, M., Aretini, P., Kantala, J., Aroer, B., von Wachenfeldt, A. & 31 others, Liljegren, A., Loman, N., Herbst, K., Kristoffersson, U., Rosenquist, R., Karlsson, P., Stenmark-Askmalm, M., Melin, B., Nathanson, K. L., Domchek, S. M., Byrski, T., Huzarski, T., Gronwald, J., Menkiszak, J., Cybulski, C., Serrano, P., Osorio, A., Cajal, T. R., Tsitlaidou, M., Benítez, J., Gilbert, M., Rookus, M., Aalfs, C. M., Kluijt, I., Boessenkool-Pape, J. L., Easton, D. F., Ellis, S. D., Cook, J., Wang, X., OCGN & Miedzybrodzka, Z., 5 Jun 2012, In : British Journal of Cancer. 106, 12, p. 2016-2024 9 p.

Research output: Contribution to journalArticle

20 Citations (Scopus)

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

Kuchenbaecker, K. B., Neuhausen, S. L., Robson, M., Barrowdale, D., McGuffog, L., Mulligan, A. M., Andrulis, I. L., Spurdle, A. B., Schmidt, M. K., Schmutzler, R. K., Engel, C., Wappenschmidt, B., Nevanlinna, H., Thomassen, M., Southey, M., Radice, P., Ramus, S. J., Domchek, S. M., Nathanson, K. L., Lee, A. & 31 others, Healey, S., Nussbaum, R. L., Rebbeck, T. R., Arun, B. K., James, P., Karlan, B. Y., Lester, J., Cass, I., Terry, M. B., Daly, M. B., Goldgar, D. E., Buys, S. S., Janavicius, R., Tihomirova, L., Tung, N., Dorfling, C. M., van Rensburg, E. J., Steele, L., v O Hansen, T., Ejlertsen, B., Gerdes, A-M., Nielsen, F. C., Dennis, J., Cunningham, J., Hart, S., Slager, S., Osorio, A., Benitez, J., Duran, M., Breast Cancer Family Registry & Miedzybrodzka, Z. H., 31 Dec 2014, In : Breast Cancer Research. 16, 6, 3416.

Research output: Contribution to journalArticle

Open Access
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28 Citations (Scopus)
6 Downloads (Pure)

BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years

Robertson, L., Hanson, H., Seal, S., Warren-Perry, M., Hughes, D., Howell, I., Turnbull, C., Houlston, R., Shanley, S., Butler, S., Evans, D. G., Ross, G., Eccles, D., Tutt, A., Rahman, N., TNT Trial TMG & Miedzybrodzka, Z., 13 Mar 2012, In : British Journal of Cancer. 106, 6, p. 1234-1238 5 p.

Research output: Contribution to journalArticle

Open Access
66 Citations (Scopus)

Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

GENICA Network, kConFaB, AOCS Study Group, SWE-BRCA, HEBON & EMBRACE, 29 Jun 2012, In : PloS ONE. 7, 6, 10 p., e35706.

Research output: Contribution to journalArticle

Open Access
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8 Citations (Scopus)
5 Downloads (Pure)

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion

Lee, J-M., Ramos, E. M., Lee, J-H., Gillis, T., Mysore, J. S., Hayden, M. R., Warby, S. C., Morrison, P., Nance, M., Ross, C. A., Margolis, R. L., Squitieri, F., Orobello, S., Di Donato, S., Gomez-Tortosa, E., Ayuso, C., Suchowersky, O., Trent, R. J. A., McCusker, E., Novelletto, A. & 20 others, Frontali, M., Jones, R., Ashizawa, T., Frank, S., Saint-Hilaire, M. H., Hersch, S. M., Rosas, H. D., Lucente, D., Harrison, M. B., Zanko, A., Abramson, R. K., Marder, K., Sequeiros, J., Paulsen, J. S., Landwehrmeyer, G. B., Myers, R. H., MacDonald, M. E., Gusella, J. F., PREDICT-HD study of the Huntington Study Group (HSG) & Miedzybrodzka, Z., 6 Mar 2012, In : Neurology. 78, 10, p. 690-695 6 p.

Research output: Contribution to journalArticle

170 Citations (Scopus)

Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE

Mavaddat, N., Peock, S., Frost, D., Ellis, S., Platte, R., Fineberg, E., Evans, D. G., Izatt, L., Eeles, R. A., Adlard, J., Davidson, R., Eccles, D., Cole, T., Cook, J., Brewer, C., Tischkowitz, M., Douglas, F., Hodgson, S., Walker, L., Porteous, M. E. & 16 others, Morrison, P. J., Side, L. E., Kennedy, M. J., Houghton, C., Donaldson, A., Rogers, M. T., Dorkins, H., Miedzybrodzka, Z., Gregory, H., Eason, J., Barwell, J., McCann, E., Murray, A., Antoniou, A. C., Easton, D. F. & on behalf of EMBRACE, 5 Jun 2013, In : Journal of the National Cancer Institute. 105, 11, p. 812-822 11 p.

Research output: Contribution to journalArticle

469 Citations (Scopus)
Open Access
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12 Citations (Scopus)
3 Downloads (Pure)

Cognitive domains that predict time to diagnosis in prodromal Huntington disease

Harrington, D. L., Smith, M. M., Zhang, Y., Carlozzi, N. E., Paulsen, J. S., PREDICT-HD Investigators of the Huntington Study Group & Miedzybrodzka, Z., Jun 2012, In : Journal of Neurology, Neurosurgery & Psychiatry. 83, 6, p. 612-619 8 p.

Research output: Contribution to journalArticle

58 Citations (Scopus)

Cognitive reserve and brain reserve in prodromal Huntington's disease

Bonner-Jackson, A., Long, J. D., Westervelt, H., Tremont, G., Aylward, E., Paulsen, J. S., PREDICT-HD Investigators And Coordinators Of The Huntington Study Group & Miedzybrodzka, Z. H., Aug 2013, In : Journal of the International Neuropsychological Society. 19, 7, p. 739-750 12 p.

Research output: Contribution to journalArticle

31 Citations (Scopus)

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

Antoniou, A. C., Kartsonaki, C., Sinilnikova, O. M., Soucy, P., McGuffog, L., Healey, S., Lee, A., Peterlongo, P., Manoukian, S., Peissel, B., Zaffaroni, D., Cattaneo, E., Barile, M., Pensotti, V., Pasini, B., Dolcetti, R., Giannini, G., Putignano, A. L., Varesco, L., Radice, P. & 31 others, Mai, P. L., Greene, M. H., Andrulis, I. L., Glendon, G., Ozcelik, H., Thomassen, M., Gerdes, A-M., Kruse, T. A., Birk Jensen, U., Crüger, D. G., Caligo, M. A., Laitman, Y., Milgrom, R., Kaufman, B., Paluch-Shimon, S., Friedman, E., Loman, N., Harbst, K., Lindblom, A., Arver, B., Ehrencrona, H., Melin, B., Nathanson, K. L., Domchek, S. M., Rebbeck, T., Jakubowska, A., Lubinski, J., Gronwald, J., Huzarski, T., Miedzybrodzka, Z. & SWE-BRCA, 15 Aug 2011, In : Human Molecular Genetics. 20, 16, p. 3304-3321 18 p.

Research output: Contribution to journalArticle

54 Citations (Scopus)

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

Mulligan, A. M., Couch, F. J., Barrowdale, D., Domchek, S. M., Eccles, D., Nevanlinna, H., Ramus, S. J., Robson, M., Sherman, M., Spurdle, A. B., Wappenschmidt, B., Lee, A., McGuffog, L., Healey, S., Sinilnikova, O. M., Janavicius, R., Hansen, T. VO., Nielsen, F. C., Ejlertsen, B., Osorio, A. & 31 others, Muñoz-Repeto, I., Durán, M., Godino, J., Pertesi, M., Benítez, J., Peterlongo, P., Manoukian, S., Peissel, B., Zaffaroni, D., Cattaneo, E., Bonanni, B., Viel, A., Pasini, B., Papi, L., Ottini, L., Savarese, A., Bernard, L., Radice, P., Hamann, U., Verheus, M., Meijers-Heijboer, H. E. J., Wijnen, J., Gómez García, E. B., Nelen, M. R., Kets, C. M., Seynaeve, C., Tilanus-Linthorst, M. M. A., van der Luijt, R. B., Gregory, H., Breast Cancer Family Registry & Miedzybrodzka, Z., 2 Nov 2011, In : Breast Cancer Research. 13, 6, R110.

Research output: Contribution to journalArticle

50 Citations (Scopus)

Common genetic variants on 1p13.2 associate with risk of autism

Xia, K., Guo, H., Xun, G., Zuo, L., Peng, Y., He, Y., Xiong, Z., Sun, L., Pan, Q., Long, Z., Zou, X., Lu, L., Liu, Y., Tian, D., Long, L., Liu, Y., Peng, H., Luo, X., Su, W., Liang, D. & 12 others, Dai, H., Yan, X., Feng, Y., Tang, B., Miedzybrodzka, Z., Xia, J., Zhang, Z., Luo, X., Zhang, X., St Clair, D., Zhao, J. & Zhang, F., Nov 2014, In : Molecular Psychiatry. 19, 11, p. 1212-1219 8 p.

Research output: Contribution to journalArticle

48 Citations (Scopus)

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

Cox, D. G., Simard, J., Sinnett, D., Hamdi, Y., Soucy, P., Ouimet, M., Barjhoux, L., Verny-Pierre, C., McGuffog, L., Healey, S., Szabo, C., Greene, M. H., Mai, P. L., Andrulis, I. L., Thomassen, M., Gerdes, A-M., Caligo, M. A., Friedman, E., Laitman, Y., Kaufman, B. & 31 others, Paluch, S. S., Borg, Å., Karlsson, P., Askmalm, M. S., Bustinza, G. B., Nathanson, K. L., Domchek, S. M., Rebbeck, T. R., Benítez, J., Hamann, U., Rookus, M. A., van den Ouweland, A. M. W., Ausems, M. G. E. M., Aalfs, C. M., van Asperen, C. J., Devilee, P., Gille, H. J. J. P., Peock, S., Frost, D., Evans, D. G., Eeles, R., Izatt, L., Adlard, J., Paterson, J., Eason, J., Godwin, A. K., Remon, M-A., Moncoutier, V., Gauthier-Villars, M., Ontario Cancer Genetics Network & Miedzybrodzka, Z., 1 Dec 2011, In : Human Molecular Genetics. 20, 23, p. 4732-4747 16 p.

Research output: Contribution to journalArticle

19 Citations (Scopus)

Cost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial hypercholesterolaemia services in the UK

Kerr, M., Pears, R., Miedzybrodzka, Z., Haralambos, K., Cather, M., Watson, M. & Humphries, S. E., 14 Jun 2017, In : European Heart Journal. 38, 23, p. 1832-1839 8 p.

Research output: Contribution to journalArticle

Open Access
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42 Citations (Scopus)
8 Downloads (Pure)

Depressive symptom severity is related to poorer cognitive performance in prodromal Huntington disease

Smith, M. M., Mills, J. A., Epping, E. A., Westervelt, H. J., Paulsen, J. S., PREDICT-HD Investigators of the Huntington Study Group & Miedzybrodzka, Z., Sep 2012, In : Neuropsychology. 26, 5, p. 664-669 6 p.

Research output: Contribution to journalArticle

27 Citations (Scopus)

Development of the huntington disease work function scale

Brossman, B., Williams, J. K., Downing, N., Mills, J. A., Paulsen, J. S., PREDICT-HD Investigators And Coordinators Of The Huntington Study Group & Miedzybrodzka, Z., Oct 2012, In : Journal of Occupational and Environmental Medicine. 54, 10, p. 1300-1308 9 p.

Research output: Contribution to journalArticle

5 Citations (Scopus)

Discrepancies in reporting the CAG repeat lengths for Huntington's disease

Quarrell, O. W., Handley, O., O'Donovan, K., Dumoulin, C., Ramos-Arroyo, M., Biunno, I., Bauer, P., Kline, M., Landwehrmeyer, G. B., European Huntington's Disease Network & Miedzybrodzka, Z., 2012, In : EJHG : European journal of human genetics : the official journal of the European Society of Human Genetics. . 20, 1, p. 20-26 7 p.

Research output: Contribution to journalArticle

11 Citations (Scopus)

Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers

Maia, A-T., Antoniou, A. C., O'Reilly, M., Samarajiwa, S., Dunning, M., Kartsonaki, C., Chin, S-F., Curtis, C. N., McGuffog, L., Domchek, S. M., Easton, D. F., Peock, S., Frost, D., Evans, D. G., Eeles, R., Izatt, L., Adlard, J., Eccles, D., Sinilnikova, O. M., Mazoyer, S. & 18 others, Stoppa-Lyonnet, D., Gauthier-Villars, M., Faivre, L., Venat-Bouvet, L., Delnatte, C., Nevanlinna, H., Couch, F. J., Godwin, A. K., Caligo, M. A., Barkardottir, R. B., Chen, X., Beesley, J., Healey, S., Caldas, C., Chenevix-Trench, G., Ponder, B. A. J., EMBRACE & Miedzybrodzka, Z., 18 Apr 2012, In : Breast Cancer Research. 14, 2, R63.

Research output: Contribution to journalArticle

Open Access
12 Citations (Scopus)

Elucigene and LIPOchip for FH: NICE Diagnostic Assessment Review (DAR)

Sharma, P., Boyers, D., Boachie, C., Stewart, F., Miedzybrodzka, Z., Simpson, W., Kilonzo, M. M., McNamee, P. & Mowatt, G., Nov 2011.

Research output: Contribution to conferenceOther

Elucigene FH20 and LIPOchip for the diagnosis of familial hypercholesterolaemia: a systematic review and economic evaluation

Sharma, P., Boyers, D., Boachie, C., Stewart, F., Miedzybrodzka, Z., Simpson, W., Kilonzo, M., McNamee, P. & Mowatt, G., Mar 2012, In : Health Technology Assessment. 16, 17, p. 1-266 266 p.

Research output: Contribution to journalArticle

Open Access
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16 Citations (Scopus)
7 Downloads (Pure)

Epidermal Growth Factor (EGFR) copy number aberrations in esophageal and gastro-esophageal junctional carcinoma

Dahle-Smith, A., Stevenson, D., Massie, D., Murray, G. I., Dutton, S. J., Roberts, C., Ferry, D., Osborne, A., Clark, C., Petty, R. D. & Miedzybrodzka, Z., 17 Oct 2015, In : Molecular Cytogenetics . 8, 78.

Research output: Contribution to journalArticle

Open Access
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8 Citations (Scopus)
6 Downloads (Pure)

Epidermal growth factor receptor copy number gain (EGFR CNG) and response to gefitinib in esophageal cancer (EC): Results of a biomarker analysis of a phase Ill trial of gefitinib versus placebo (TRANS-COG).

Petty, R. D., Dahle-Smith, A., Miedzybrodzka, Z., Dutton, S. J., Murray, G. I., Stevenson, D., Massie, D., Osbourne, A., Clark, C., Mansoor, W., Thompson, J., Harrison, M., Chatterjee, A., Falk, S., Elyan, S., Garcia-Alonso, A., Fyfe, D. W., Chau, I., Collinson, D. & Ferry, D., 20 May 2014, In : Journal of Clinical Oncology. 32, 15, 1 p.

Research output: Contribution to journalAbstract

Evaluation of association methods for analysing modifiers of disease risk in carriers of high-risk mutations

EMBRACE Investigators & kConFab Investigators, Apr 2012, In : Social Psychiatry and Psychiatric Epidemiology. 36, 3, p. 274-291 18 p.

Research output: Contribution to journalArticle

25 Citations (Scopus)

Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers: results from the consortium of investigators of modifiers of BRCA1/BRCA2

Osorio, A., Milne, R. L., Alonso, R., Pita, G., Peterlongo, P., Teulé, A., Nathanson, K. L., Domchek, S. M., Rebbeck, T., Lasa, A., Konstantopoulou, I., Hogervorst, F. B., Verhoef, S., van Dooren, M. F., Jager, A., Ausems, M. G. E. M., Aalfs, C. M., van Asperen, C. J., Vreeswijk, M., Waisfisz, Q. & 31 others, Van Roozendaal, C. E., Ligtenberg, M. J., Easton, D. F., Peock, S., Cook, M., Oliver, C. T., Frost, D., Curzon, B., Evans, D. G., Lalloo, F., Eeles, R., Izatt, L., Davidson, R., Adlard, J., Eccles, D., Ong, K., Douglas, F., Downing, S., Brewer, C., Walker, L., Nevanlinna, H., Aittomäki, K., Couch, F. J., Fredericksen, Z., Lindor, N. M., Godwin, A., Isaacs, C., Caligo, M. A., Loman, N., HEBON & Miedzybrodzka, Z., 12 Apr 2011, In : British Journal of Cancer. 104, 8, p. 1356-1361 6 p.

Research output: Contribution to journalArticle

5 Citations (Scopus)

Fostering, adoption and Huntington's disease: improving clients' experience

Keenan, K. F., Miedzybrodzka, Z. & Eden, J., Sep 2012, In : Journal of Neurology, Neurosurgery & Psychiatry. 83, Suppl. 1, p. A50 1 p.

Research output: Contribution to journalAbstract

Full UPF3B function is critical for neuronal differentiation of neural stem cells

Alrahbeni, T., Sartor, F., Anderson, J., Miedzybrodzka, Z., McCaig, C. & Muller, B., 27 May 2015, In : Molecular brain. 8, 15 p., 33.

Research output: Contribution to journalArticle

Open Access
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21 Citations (Scopus)
7 Downloads (Pure)

GATA4 mutations are a cause of neonatal and childhood-onset diabetes

Shaw-Smith, C., De Franco, E., Allen, H. L., Batlle, M., Flanagan, S. E., Borowiec, M., Taplin, C. E., van Alfen-van der Velden, J., Cruz-Rojo, J., Perez de Nanclares, G., Miedzybrodzka, Z., Deja, G., Wlodarska, I., Mlynarski, W., Ferrer, J., Hattersley, A. T. & Ellard, S., Aug 2014, In : Diabetes. 6, 8, p. 2888-2894 7 p.

Research output: Contribution to journalArticle

57 Citations (Scopus)

Gefitinib and EGFR Gene Copy Number Aberrations in Esophageal Cancer

Petty, R. D., Dahle-Smith, A., Stevenson, D. A. J., Osborne, A., Massie, D., Clark, C., Murray, G. I., Dutton, S. J., Roberts, C., Chong, I. Y., Mansoor, W., Thompson, J., Harrison, M., Chatterjee, A., Falk, S., Elyan, S., Garcia-Alonso, A., Fyfe, D. W., Wadsley, J., Chau, I. & 2 others, Ferry, D. & Miedzybrodzka, Z., Jul 2017, In : Journal of Clinical Oncology. 35, 20, p. 2279-2287 9 p.

Research output: Contribution to journalArticle

Open Access
40 Citations (Scopus)

Gene-gene interactions in breast cancer susceptibility

Turnbull, C., Seal, S., Renwick, A., Warren-Perry, M., Hughes, D., Elliott, A., Pernet, D., Peock, S., Adlard, J. W., Barwell, J., Berg, J., Brady, A. F., Brewer, C., Brice, G., Chapman, C., Cook, J., Davidson, R., Donaldson, A., Douglas, F., Greenhalgh, L. & 19 others, Henderson, A., Izatt, L., Kumar, A., Lalloo, F., Miedzybrodzka, Z., Morrison, P. J., Paterson, J., Porteous, M., Rogers, M. T., Shanley, S., Walker, L., Ahmed, M., Eccles, D., Evans, D. G., Donnelly, P., Easton, D. F., Stratton, M. R., Rahman, N. & Breast Cancer Susceptibility Collaboration (UK), EMBRACE, 15 Feb 2012, In : Human Molecular Genetics. 21, 4, p. 958-962 5 p.

Research output: Contribution to journalArticle

26 Citations (Scopus)

Genetic Discrimination and Predictive Testing for Huntington’s Disease and Familial Cancer in Northern Scotland: The I-Respond-UK Study

Wedderburn, S., Rae, D., Williams, J., Carey-Heaton, R. & Miedzybrodzka, Z., Sep 2014, In : Journal of Neurology, Neurosurgery & Psychiatry. 85, Suppl 1, p. A80-A80 1 p., K05.

Research output: Contribution to journalAbstract

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

Ramus, S. J., Kartsonaki, C., Gayther, S. A., Pharoah, P. D. P., Sinilnikova, O. M., Beesley, J., Chen, X., McGuffog, L., Healey, S., Couch, F. J., Wang, X., Fredericksen, Z., Peterlongo, P., Manoukian, S., Peissel, B., Zaffaroni, D., Roversi, G., Barile, M., Viel, A., Allavena, A. & 31 others, Ottini, L., Papi, L., Gismondi, V., Capra, F., Radice, P., Greene, M. H., Mai, P. L., Andrulis, I. L., Glendon, G., Ozcelik, H., Thomassen, M., Gerdes, A-M., Kruse, T. A., Cruger, D., Jensen, U. B., Caligo, M. A., Olsson, H., Kristoffersson, U., Lindblom, A., Arver, B., Karlsson, P., Stenmark Askmalm, M., Borg, A., Neuhausen, S. L., Ding, Y. C., Nathanson, K. L., Domchek, S. M., Jakubowska, A., Gregory, H., OCGN & Miedzybrodzka, Z., 19 Jan 2011, In : Journal of the National Cancer Institute. 103, 2, p. 105-116 12 p.

Research output: Contribution to journalArticle

32 Citations (Scopus)

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

Michailidou, K., Beesley, J., Lindstrom, S., Canisius, S., Dennis, J., Lush, M. J., Maranian, M. J., Bolla, M. K., Wang, Q., Shah, M., Perkins, B. J., Czene, K., Eriksson, M., Darabi, H., Brand, J. S., Bojesen, S. E., Nordestgaard, B. G., Flyger, H., Nielsen, S. F., Rahman, N. & 31 others, Turnbull, C., Fletcher, O., Peto, J., Gibson, L., dos-Santos-Silva, I., Chang-Claude, J., Flesch-Janys, D., Rudolph, A., Eilber, U., Behrens, S., Nevanlinna, H., Muranen, T. A., Aittomäki, K., Blomqvist, C., Khan, S., Aaltonen, K., Ahsan, H., Kibriya, M. G., Whittemore, A. S., John, E. M., Malone, K. E., Gammon, M. D., Santella, R. M., Ursin, G., Makalic, E., Schmidt, D. F., Casey, G., Hunter, D. J., Zheng, W., BOCS & Miedzybrodzka, Z. H., Apr 2015, In : Nature Genetics. 47, 4, p. 373-380 8 p.

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294 Citations (Scopus)

Germline mutations in RAD51D confer susceptibility to ovarian cancer

Loveday, C., Turnbull, C., Ramsay, E., Hughes, D., Ruark, E., Frankum, J. R., Bowden, G., Kalmyrzaev, B., Warren-Perry, M., Snape, K., Adlard, J. W., Barwell, J., Berg, J., Brady, A. F., Brewer, C., Brice, G., Chapman, C., Cook, J., Davidson, R., Donaldson, A. & 23 others, Douglas, F., Greenhalgh, L., Henderson, A., Izatt, L., Kumar, A., Lalloo, F., Miedzybrodzka, Z., Morrison, P. J., Paterson, J., Porteous, M., Rogers, M. T., Shanley, S., Walker, L., Eccles, D., Evans, D. G., Renwick, A., Seal, S., Lord, C. J., Ashworth, A., Reis-Filho, J. S., Antoniou, A. C., Rahman, N. & Breast Cancer Susceptibility Collaboration (UK), Sep 2011, In : Nature Genetics. 43, 9, p. 879-882 4 p.

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302 Citations (Scopus)

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

Im, K. M., Kirchhoff, T., Wang, X., Green, T., Chow, C. Y., Vijai, J., Korn, J., Gaudet, M. M., Fredericksen, Z., Shane Pankratz, V., Guiducci, C., Crenshaw, A., McGuffog, L., Kartsonaki, C., Morrison, J., Healey, S., Sinilnikova, O. M., Mai, P. L., Greene, M. H., Piedmonte, M. & 31 others, Rubinstein, W. S., Hogervorst, F. B., Rookus, M. A., Collée, J. M., Hoogerbrugge, N., van Asperen, C. J., Meijers-Heijboer, H. E. J., Van Roozendaal, C. E., Caldes, T., Perez-Segura, P., Jakubowska, A., Lubinski, J., Huzarski, T., Blecharz, P., Nevanlinna, H., Aittomäki, K., Lazaro, C., Blanco, I., Barkardottir, R. B., Montagna, M., D'Andrea, E., Devilee, P., Olopade, O. I., Neuhausen, S. L., Peissel, B., Bonanni, B., Peterlongo, P., Singer, C. F., Rennert, G., HEBON & Miedzybrodzka, Z., Nov 2011, In : Human Genetics. 130, 5, p. 685-699 15 p.

Research output: Contribution to journalArticle

12 Citations (Scopus)

Health Care Delivery Practices in Huntington's Disease Specialty Clinics: An International Survey

Frich, J. C., Rae, D., Roxburgh, R., Miedzybrodzka, Z. H., Edmondson, M., Pope, E. B., Goodman, L., Haddad, M. S., Giuliano, J., Nelson, E. C., Guttman, M. & Nance, M., 1 Jul 2016, In : Journal of Huntington's disease. 5, 2, p. 207-213 7 p.

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10 Citations (Scopus)
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Help or hindrance: young people's experiences of predictive testing for Huntington's disease

Keenan, K., McKee, L. & Miedzybrodzka, Z., Jun 2015, In : Clinical Genetics. 87, 6, p. 563-569 7 p.

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Open Access
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13 Citations (Scopus)
13 Downloads (Pure)

High sensitivity detection of epidermal growth factor receptor (EGFR) T790M mutants in non-small-cell lung cancer

Tracey, J., Clark, C., Bell, C., Kerr, K. M., Nicolson, M., Miedzybrodzka, Z. & Kelly, K., Jan 2013, In : Lung Cancer. 79, Supplement 1, p. S7-S8 2 p., 21.

Research output: Contribution to journalAbstract

How Do Partners Find out About the Risk of Huntington's Disease in Couple Relationships?

Keenan, K., Simpson, S. A., Miedzybrodzka, Z., Alexander, D. A. & Semper, J., Jun 2013, In : Journal of genetic counseling. 22, 3, p. 336-344 9 p.

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7 Citations (Scopus)

How to Improve Young People's Experiences of Predictive Testing for Huntington's Disease

Keenan, K. F., McKee, L. & Miedzybrodzka, Z., Sep 2014, In : Journal of Neurology, Neurosurgery & Psychiatry. 85, Suppl 1, p. A79-A79 1 p., K02.

Research output: Contribution to journalAbstract

151 Citations (Scopus)

Huntington disease reduced penetrance alleles occur at high frequency in the general population

Kay, C., Collins, J. A., Miedzybrodzka, Z., Madore, S. J., Gordon, E. S., Gerry, N., Davidson, M., Slama, R. A. & Hayden, M. R., Jul 2016, In : Neurology. 87, 3, p. 282-288 7 p.

Research output: Contribution to journalArticle

34 Citations (Scopus)