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Marc Tischkowitz

  • 3421
    Citations

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Expertise related to UN Sustainable Development Goals

In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):

  • SDG 3 - Good Health and Well-being

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  • Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

    Deciphering Developmental Disorders Study, UK10K Consortium, NIHR BioResource, Simpson, M. A., Prigmore, E., Jones, P., Armstrong, R., Bennett, C., Berg, J., Bernhard, B., Cooper, N., Cox, H., Flinter, F., Fry, A., Gill, H., Gray, E., Harrison, V., Irving, M., Josifova, D. & Langman, C. & 44 others, Mohammed, S., Moore, D., Murphy, H., Roberts, J., Tischkowitz, M., Wright, M., Bolton, P., Breen, G., Clement, G., Collier, D., Curran, S., Ellis, P., Evans, D., Hart, D., Hubbard, T., Hysi, P., Jamshidi, Y., Lachance, G., Lopes, M., McGuffin, P., Metrustry, S., Moayyeri, A., Onoufriadis, A., Parr, J. R., Quaye, L., Sharp, S. I., Small, K., Spasic-Boskovic, O., Stevens, E., Valdes, A., Walters, J. T. R., Wang, Y., Bennett, D., Bradley, J. R., Davis, J., Koziell, A., Machado, R., Richards, M., Smith, K., Southgate, L., Thomas, E., Trembath, R., Williamson, C. & Yong, P., 2 May 2019, In: American Journal of Human Genetics. 104, 5, p. 948-956 9 p.

    Research output: Contribution to journal › Article › peer-review

    47 Citations (Scopus)

  • Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

    EMBRACE, May 2018, In: Human Mutation. 39, 5, p. 593-620 28 p.

    Research output: Contribution to journal › Article › peer-review

    228 Citations (Scopus)

  • Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

    Carss, K. J., Arno, G., Erwood, M., Stephens, J., Sanchis-Juan, A., Hull, S., Megy, K., Grozeva, D., Dewhurst, E., Malka, S., Plagnol, V., Penkett, C., Stirrups, K., Rizzo, R., Wright, G., Josifova, D., Bitner-Glindzicz, M., Scott, R. H., Clement, E. & Allen, L. & 290 others, Armstrong, R., Brady, A. F., Carmichael, J., Chitre, M., Henderson, R. H. H., Hurst, J., MacLaren, R. E., Murphy, E., Paterson, J., Rosser, E., Thompson, D. A., Wakeling, E., Ouwehand, W. H., Michaelides, M., Moore, A. T., Aitman, T., Alachkar, H., Ali, S., Allen, L., Allsup, D., Ambegaonkar, G., Anderson, J., Antrobus, R., Armstrong, R., Arno, G., Arumugakani, G., Ashford, S., Astle, W., Attwood, A., Austin, S., Bacchelli, C., Bakchoul, T., Bariana, T. K., Baxendale, H., Bennett, D., Bethune, C., Bibi, S., Bitner-Glindzicz, M., Bleda, M., Boggard, H., Bolton-Maggs, P., Booth, C., Brady, A., Brown, M., Browning, M., Bryson, C., Burns, S., Calleja, P., Canham, N., Carmichael, J., Carss, K., Caulfield, M., Chalmers, E., Chandra, A., Chinnery, P., Chitre, M., Church, C., Clement, E., Clements-Brod, N., Clowes, V., Coghlan, G., Collins, P., Cooper, N., Creaser-Myers, A., DaCosta, R., Daugherty, L., Davies, S., Davis, J., De Vries, M., Deegan, P., Deevi, S. V. V., Deshpande, C., Devlin, L., Dewhurst, E., Doffinger, R., Dormand, N., Drewe, E., Edgar, D., Egner, W., Erber, W. N., Erwood, M., Everington, T., Favier, R., Firth, H., Fletcher, D., Flinter, F., Fox, J. C., Frary, A., Freson, K., Furie, B., Furnell, A., Gale, D., Gardham, A., Gattens, M., Ghali, N., Ghataorhe, P. K., Ghurye, R., Gibbs, S., Gilmour, K., Gissen, P., Goddard, S., Gomez, K., Gordins, P., Gräf, S., Greene, D., Greenhalgh, A., Greinacher, A., Grigoriadou, S., Grozeva, D., Hackett, S., Hadinnapola, C., Hague, R., Haimel, M., Halmagyi, C., Hammerton, T., Hart, D., Hayman, G., Heemskerk, J. W. M., Henderson, R., Hensiek, A., Henskens, Y., Herwadkar, A., Holden, S., Holder, M., Holder, S., Hu, F., Huissoon, A., Humbert, M., Hurst, J., James, R., Jolles, S., Josifova, D., Kazmi, R., Keeling, D., Kelleher, P., Kelly, A. M., Kennedy, F., Kiely, D., Kingston, N., Koziell, A., Krishnakumar, D., Kuijpers, T. W., Kumararatne, D., Kurian, M., Laffan, M. A., Lambert, M. P., Allen, H. L., Lawrie, A., Lear, S., Lees, M., Lentaigne, C., Liesner, R., Linger, R., Longhurst, H., Lorenzo, L., Machado, R., Mackenzie, R., MacLaren, R., Maher, E., Maimaris, J., Mangles, S., Manson, A., Mapeta, R., Markus, H. S., Martin, J., Masati, L., Mathias, M., Matser, V., Maw, A., McDermott, E., McJannet, C., Meacham, S., Meehan, S., Megy, K., Mehta, S., Michaelides, M., Millar, C. M., Moledina, S., Moore, A., Morrell, N., Mumford, A., Murng, S., Murphy, E., Nejentsev, S., Noorani, S., Nurden, P., Oksenhendler, E., Ouwehand, W. H., Papadia, S., Park, S. M., Parker, A., Pasi, J., Patch, C., Paterson, J., Payne, J., Peacock, A., Peerlinck, K., Penkett, C. J., Pepke-Zaba, J., Perry, D. J., Pollock, V., Polwarth, G., Ponsford, M., Qasim, W., Quinti, I., Rankin, S., Rankin, J., Raymond, F. L., Rehnstrom, K., Reid, E., Rhodes, C. J., Richards, M., Richardson, S., Richter, A., Roberts, I., Rondina, M., Rosser, E., Roughley, C., Rue-Albrecht, K., Samarghitean, C., Sanchis-Juan, A., Sandford, R., Santra, S., Sargur, R., Savic, S., Schulman, S., Schulze, H., Scott, R., Scully, M., Seneviratne, S., Sewell, C., Shamardina, O., Shipley, D., Simeoni, I., Sivapalaratnam, S., Smith, K., Sohal, A., Southgate, L., Staines, S., Staples, E., Stauss, H., Stein, P., Stephens, J., Stirrups, K., Stock, S., Suntharalingam, J., Tait, R. C., Talks, K., Tan, Y., Thachil, J., Thaventhiran, J., Thomas, E., Thomas, M., Thompson, D., Thrasher, A., Tischkowitz, M., Titterton, C., Toh, C. H., Toshner, M., Treacy, C., Trembath, R., Tuna, S., Turek, W., Turro, E., Van Geet, C., Veltman, M., Vogt, J., von Ziegenweldt, J., Noordegraaf, A. V., Wakeling, E., Wanjiku, I., Warner, T. Q., Wassmer, E., Watkins, H., Webster, A., Welch, S., Westbury, S., Wharton, J., Whitehorn, D., Wilkins, M., Willcocks, L., Williamson, C., Woods, G., Wort, J., Yeatman, N., Yong, P., Young, T., Yu, P., Webster, A. R. & Raymond, F. L., 5 Jan 2017, In: American Journal of Human Genetics. 100, 1, p. 75-90 16 p.

    Research output: Contribution to journal › Article › peer-review

    346 Citations (Scopus)

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

    Breast Cancer Family Registry, 31 Dec 2014, In: Breast Cancer Research. 16, 6, p. 3416

    Research output: Contribution to journal › Article › peer-review

    45 Citations (Scopus)

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

    EMBRACE, 5 Jun 2013, In: Journal of the National Cancer Institute. 105, 11, p. 812-22 11 p.

    Research output: Contribution to journal › Article › peer-review

    744 Citations (Scopus)
View all 21 research outputs