Find Research Outputs

Search concepts
Selected filters

Publication Year

  • 2020
  • 2019
  • 2018
  • 2017
  • 2016
  • 2015
  • 2014
  • 2013
  • 2012
  • 2011

Author

  • Zosia Miedzybrodzka
2012

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

26 Citations (Scopus)
2011

Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY

Orth, M., Handley, O. J., Schwenke, C., Dunnett, S., Wild, E. J., Tabrizi, S. J., Landwehrmeyer, G. B., European Huntington's Disease Network & Miedzybrodzka, Z., Dec 2011, In : Journal of Neurology, Neurosurgery & Psychiatry. 82, 12, p. 1409-1412 4 p.

Research output: Contribution to journalArticle

62 Citations (Scopus)
2013

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

Ruark, E., Snape, K., Humburg, P., Loveday, C., Bajrami, I., Brough, R., Rodrigues, D. N., Renwick, A., Seal, S., Ramsay, E., Duarte, S. D. V., Rivas, M. A., Warren-Perry, M., Zachariou, A., Campion-Flora, A., Hanks, S., Murray, A., Pour, N. A., Douglas, J., Gregory, L. & 31 others, Rimmer, A., Walker, N. M., Yang, T-P., Adlard, J. W., Barwell, J., Berg, J., Brady, A. F., Brewer, C., Brice, G., Chapman, C., Cook, J., Davidson, R., Donaldson, A., Douglas, F., Eccles, D., Evans, D. G., 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., Gore, M., Todd, J. A. & Breast and Ovarian Cancer Susceptibility Collaboration, 17 Jan 2013, In : Nature. 493, 7432, p. 406-410 5 p.

Research output: Contribution to journalArticle

160 Citations (Scopus)
2011

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

2018

The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population

Kay, C., Collins, J. A., Wright, G. E. B., Baine, F., Miedzybrodzka, Z., Aminkeng, F., Semaka, A. J., McDonald, C., Davidson, M., Madore, S. J., Gordon, E. S., Gerry, N. P., Cornejo-Olivas, M., Squitieri, F., Tishkoff, S., Greenberg, J. L., Krause, A. & Hayden, M. R., 30 Apr 2018, In : American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics. 177, 3, p. 346-357 12 p.

Research output: Contribution to journalArticle

16 Citations (Scopus)
2012

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
File
16 Citations (Scopus)
5 Downloads (Pure)

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
File
8 Citations (Scopus)
5 Downloads (Pure)

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

23 Citations (Scopus)
2014

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

146 Citations (Scopus)
2011

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.

Research output: Contribution to journalArticle

285 Citations (Scopus)
2012

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)
2016

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
File
22 Citations (Scopus)
5 Downloads (Pure)
2016

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

1 Citation (Scopus)
2 Downloads (Pure)
2012

Is PATCHED an important candidate gene for neural tube defects? Cranial and thoracic neural tube defects in a family with Gorlin syndrome: a case report

Roudgari, H., Farndon, P. A., Murray, A. D., Hardy, C. & Miedzybrodzka, Z., Jul 2012, In : Clinical Genetics. 82, 1, p. 71-76 6 p.

Research output: Contribution to journalArticle

6 Citations (Scopus)

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

165 Citations (Scopus)
2011

Parenting a child with clubfoot: a qualitative study

Pietrucin-Materek, M., Van Teijlingen, E. R., Barker, S., Keenan, K. & Miedzybrodzka, Z., Nov 2011, In : International Journal of Orthopaedic and Trauma Nursing. 15, 4, p. 176-184 9 p.

Research output: Contribution to journalArticle

5 Citations (Scopus)
2018

Routine germline BRCA1 and BRCA2 testing in ovarian carcinoma patients: analysis of the Scottish real life experience

Rust, K., Spiliopoulou, P., Tang, C. Y., Bell, C., Stirling, D., Phang, T. H. F., Davidson, R., Mackean, M., Nussey, F., Glasspool, R., Reed, N., Sadozye, A., Porteous, M., McGoldrick, T., Ferguson, M., Miedzybrodzka, Z., McNeish, I. A. & Gourley, C., Oct 2018, In : BJOG-An International Journal of Obstetrics and Gynaecology. 125, 11, p. 1451-1458 8 p.

Research output: Contribution to journalArticle

Open Access
File
6 Citations (Scopus)
4 Downloads (Pure)
2012

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

2014

Lymphocyte Telomere Length Is Long in BRCA1 and BRCA2 Mutation Carriers Regardless of Cancer-Affected Status

Pooley, K. A., McGuffog, L., Barrowdale, D., Frost, D., Ellis, S. D., Fineberg, E., Platte, R., Izatt, L., Adlard, J., Bardwell, J., Brewer, C., Cole, T., Cook, J., Davidson, R., Donaldson, A., Dorkins, H., Douglas, F., Eason, J., Houghton, C., Kennedy, M. J. & 17 others, McCann, E., Miedzybrodzka, Z., Murray, A., Porteous, M. E., Rogers, M. T., Side, L. E., Tischkowitz, M., Walker, L., Hodgson, S., Eccles, D. M., Morrison, P. J., Evans, D. G., Eeles, R. A., Antoniou, A. C., Easton, D. F., Dunning, A. M. & EMBRACE, Jun 2014, In : Cancer Epidemiology, Biomarkers and Prevention. 23, 6, p. 1018-1024 7 p.

Research output: Contribution to journalArticle

11 Citations (Scopus)
2019

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

2016

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

27 Citations (Scopus)
2013

The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients

Metzger, S., Walter, C., Riess, O., Roos, R. A. C., Nielsen, J. E., Craufurd, D., Nguyen, H. P., REGISTRY Investigators of the European Huntington’s Disease Network & Miedzybrodzka, Z. H., 22 Jul 2013, In : PloS ONE. 8, 7, e68951.

Research output: Contribution to journalArticle

23 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

451 Citations (Scopus)
2015

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

Legati, A., Giovannini, D., Nicolas, G., López-Sánchez, U., Quintáns, B., Oliveira, J. R. M., Sears, R. L., Ramos, E. M., Spiteri, E., Sobrido, M-J., Carracedo, Á., Castro-Fernández, C., Cubizolle, S., Fogel, B. L., Goizet, C., Jen, J. C., Kirdlarp, S., Lang, A. E., Miedzybrodzka, Z., Mitarnun, W. & 21 others, Paucar, M., Paulson, H., Pariente, J., Richard, A-C., Salins, N. S., Simpson, S. A., Striano, P., Svenningsson, P., Tison, F., Unni, V. K., Vanakker, O., Wessels, M. W., Wetchaphanphesat, S., Yang, M., Boller, F., Campion, D., Hannequin, D., Sitbon, M., Geschwind, D. H., Battini, J-L. & Coppola, G., Jun 2015, In : Nature Genetics. 47, 6, p. 579-581 3 p.

Research output: Contribution to journalArticle

122 Citations (Scopus)
2014

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
File
26 Citations (Scopus)
4 Downloads (Pure)
2017

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
File
41 Citations (Scopus)
6 Downloads (Pure)
2012

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

57 Citations (Scopus)
2014

Shaping The Huntington’s Disease Journey: A Managed Care Pathway For Scotland

Rae, D., Eden, J., Miedzybrodzka, Z. & Scottish Huntington's Assoc, Sep 2014, In : Journal of Neurology, Neurosurgery & Psychiatry. 85, Suppl 1, p. A84-A84 1 p., L04.

Research output: Contribution to journalAbstract

2015

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

Kuchenbaecker, K. B., Ramus, S. J., Tyrer, J., Lee, A., Shen, H. C., Beesley, J., Lawrenson, K., McGuffog, L., Healey, S., Lee, J. M., Spindler, T. J., Lin, Y. G., Pejovic, T., Bean, Y., Li, Q., Coetzee, S., Hazelett, D., Miron, A., Southey, M., Terry, M. B. & 31 others, Goldgar, D. E., Buys, S. S., Janavicius, R., Dorfling, C. M., van Rensburg, E. J., Neuhausen, S. L., Ding, Y. C., Hansen, T. V. O., Jønson, L., Gerdes, A-M., Ejlertsen, B., Barrowdale, D., Dennis, J., Benitez, J., Osorio, A., Garcia, M. J., Komenaka, I., Weitzel, J. N., Ganschow, P., Peterlongo, P., Bernard, L., Viel, A., Bonanni, B., Peissel, B., Manoukian, S., Radice, P., Papi, L., Ottini, L., Zheng, W., EMBRACE & Miedzybrodzka, Z. H., Feb 2015, In : Nature Genetics. 47, 2, p. 164-171 8 p.

Research output: Contribution to journalLetter

136 Citations (Scopus)
2011

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)
2012

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)
2013

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

29 Citations (Scopus)
2011

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)
2013

Suicidal ideation in a European Huntington's disease population

Hubers, A. A. M., van Duijn, E., Roos, R. A. C., Craufurd, D., Rickards, H., Bernhard Landwehrmeyer, G., van der Mast, R. C., Giltay, E. J., REGISTRY investigators of the European Huntington's Disease Network & Miedzybrodzka, Z. H., Oct 2013, In : Journal of Affective Disorders. 151, 1, p. 248-58 11 p.

Research output: Contribution to journalArticle

48 Citations (Scopus)
2014

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

2015

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
File
20 Citations (Scopus)
5 Downloads (Pure)
2013

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.

Research output: Contribution to journalArticle

7 Citations (Scopus)
2015

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.

Research output: Contribution to journalArticle

Open Access
File
12 Citations (Scopus)
11 Downloads (Pure)
2014

The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services

Evans, D. G. R., Barwell, J., Eccles, D. M., Collins, A., Izatt, L., Jacobs, C., Donaldson, A., Brady, A. F., Cuthbert, A., Harrison, R., Thomas, S., Howell, A., Miedzybrodzka, Z., Murray, A. & The FH02 Study Group, 19 Sep 2014, In : Breast Cancer Research. 16, 5, 442.

Research output: Contribution to journalArticle

Open Access
File
177 Citations (Scopus)
4 Downloads (Pure)
2017

Prevalence and architecture of de novo mutations in developmental disorders

Deciphering Developmental Disorders Study, 23 Feb 2017, In : Nature. 542, 7642, p. 433-438 6 p.

Research output: Contribution to journalArticle

370 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
33 Citations (Scopus)
2019

Letter in Response to Tibben et al., Risk Assessment for Huntington's Disease for (Future) Offspring Requires Offering Preconceptional CAG Analysis to Both Partners

Quarrell, O. W., Delatycki, M. B., Clarke, A. J., Lahiri, N., Craufurd, D., Miedzybrodzka, Z., MacLeod, R., Renwick, P. & Tomlinson, C., 27 Aug 2019, In : Journal of Huntington's disease. 8, 3, p. 357-359 3 p.

Research output: Contribution to journalLetter

1 Citation (Scopus)

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)
Open Access
File
2 Citations (Scopus)
5 Downloads (Pure)
2015

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.

Research output: Contribution to journalLetter

277 Citations (Scopus)
2019

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
File
2020

Young-onset colorectal cancer in the North East of Scotland: survival, clinico- pathological features and genetics

Perrott, S., Laurie, K., Laws, K., Johnes, A., Miedzybrodzka, Z. & Samuel, L., 10 Feb 2020, In : BMC Cancer. 20, 108.

Research output: Contribution to journalArticle

Open Access
File
2012

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)