Marc Tischkowitz

2019

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)

2018

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)

2017

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)

2014

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)

2013

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)

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

KConFab Investigators, 2013, In: PLoS Genetics. 9, 3, p. e1003212

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

222 Citations (Scopus)

Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer

Castro, E., Goh, C., Olmos, D., Saunders, E., Leongamornlert, D., Tymrakiewicz, M., Mahmud, N., Dadaev, T., Govindasami, K., Guy, M., Sawyer, E., Wilkinson, R., Ardern-Jones, A., Ellis, S., Frost, D., Peock, S., Evans, D. G., Tischkowitz, M., Cole, T. & Davidson, R. & 17 others, Eccles, D., Brewer, C., Douglas, F., Porteous, M. E., Donaldson, A., Dorkins, H., Izatt, L., Cook, J., Hodgson, S., Kennedy, M. J., Side, L. E., Eason, J., Murray, A., Antoniou, A. C., Easton, D. F., Kote-Jarai, Z. & Eeles, R., 10 May 2013, In: Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 31, 14, p. 1748-57 10 p.

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

645 Citations (Scopus)

2012

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

SWE-BRCA, Aug 2012, In: Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. 21, 8, p. 1362-70 9 p.

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

19 Citations (Scopus)

2011

Targeted prostate cancer screening in men with mutations in BRCA1 and BRCA2 detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT study

IMPACT Study Collaborators, Jan 2011, In: BJU International. 107, 1, p. 28-39 12 p.

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

88 Citations (Scopus)

2008

Large genomic deletions in AIP in pituitary adenoma predisposition

Georgitsi, M., Heliövaara, E., Paschke, R., Kumar, A. V. K., Tischkowitz, M., Vierimaa, O., Salmela, P., Sane, T., De Menis, E., Cannavò, S., Gündogdu, S., Lucassen, A., Izatt, L., Aylwin, S., Bano, G., Hodgson, S., Koch, C. A., Karhu, A. & Aaltonen, L. A., Oct 2008, In: Journal of Clinical Endocrinology and Metabolism. 93, 10, p. 4146-51 6 p.

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

75 Citations (Scopus)

2007

Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia

Georgitsi, M., Raitila, A., Karhu, A., van der Luijt, R. B., Aalfs, C. M., Sane, T., Vierimaa, O., Mäkinen, M. J., Tuppurainen, K., Paschke, R., Gimm, O., Koch, C. A., Gündogdu, S., Lucassen, A., Tischkowitz, M., Izatt, L., Aylwin, S., Bano, G., Hodgson, S. & De Menis, E. & 3 others, Launonen, V., Vahteristo, P. & Aaltonen, L. A., Aug 2007, In: Journal of Clinical Endocrinology and Metabolism. 92, 8, p. 3321-5 5 p.

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

228 Citations (Scopus)

2005

Nijmegen breakage syndrome diagnosed as Fanconi anaemia

New, H. V., Cale, C. M., Tischkowitz, M., Jones, A., Telfer, P., Veys, P., D'Andrea, A., Mathew, C. G. & Hann, I., May 2005, In: PEDIATRIC BLOOD AND CANCER. 44, 5, p. 494 - 499 6 p.

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

27 Citations (Scopus)

2004

Deletion and reduced expression of the Fanconi anemia FANCA gene in sporadic acute myeloid leukemia

Tischkowitz, M. D., Morgan, N. V., Grimwade, D., Eddy, C., Ball, S., Vorechovsky, I., Langabeer, S., Stoger, R., Hodgson, S. V. & Mathew, C. G., Mar 2004, In: Leukemia. 18, 3, p. 420 - 425 6 p.

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

68 Citations (Scopus)

Quantitative PCR analysis reveals a high incidence of large intragenic deletions in the FANCA gene in Spanish Fanconi anemia patients

Callen, E., Tischkowitz, M. D., Creus, A., Marcos, R., Bueren, J. A., Casado, J. A., Mathew, C. G. & Surralles, J., 2004, In: CYTOGENETIC AND GENOME RESEARCH. 104, 1-4, p. 341 - 345 5 p.

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

17 Citations (Scopus)

2003

Acquired FANCA dysfunction and cytogenetic instability in adult acute myelogenous leukemia

Lensch, M. W., Tischkowitz, M., Christianson, T. A., Reifsteck, C. A., Speckhart, S. A., Jakobs, P. M., O'Dwyer, M. E., Olson, S. B., Le Beau, M. M., Hodgson, S. V., Mathew, C. G., Larson, R. A. & Bagby, G. C., 1 Jul 2003, In: Blood. 102, 1, p. 7 - 16 10 p.

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

43 Citations (Scopus)

Bi-allelic silencing of the Fanconi anaemia gene FANCF in acute myeloid leukaemia

Tischkowitz, M., Ameziane, N., Waisfisz, Q., De Winter, J. P., Harris, R., Taniguchi, T., D'Andrea, A., Hodgson, S. V., Mathew, C. G. & Joenje, H., Nov 2003, In: British Journal of Haematology. 123, 3, p. 469 - 471 3 p.

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

53 Citations (Scopus)

Disruption of the Fanconi anemia-BRCA pathway in cisplatin-sensitive ovarian tumors

Taniguchi, T., Tischkowitz, M., Ameziane, N., Hodgson, S. V., Mathew, C. G., Joenje, H., Mok, S. C. & D'Andrea, A. D., 1 May 2003, In: Nature Medicine. 9, 5, p. 568 - 574 7 p.

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

491 Citations (Scopus)

Marc Tischkowitz

Research output

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