Edinburgh Research Explorer

Martin Reijns

Research Fellow

  1. 2020
  2. PRIM1 Deficiency Causes a Distinctive Primordial Dwarfism Syndrome

    The Scottish Genomes Partnership, Káposzta, R., Merő, G., Nagy, A., Orlik, B., Kovács-Pászthy, B., Quigley, A. J., Riszter, M., Rankin, J., Reijns, M. A. M., Szakszon, K. & Jackson, A. P., 15 Oct 2020, In : Genes & Development.

    Research output: Contribution to journalArticle

  3. 2019
  4. Biallelic variants in DNA2 cause microcephalic primordial dwarfism

    Tarnauskaitė, Ž., Bicknell, L. S., Marsh, J. A., Murray, J. E., Parry, D. A., Logan, C. V., Bober, M. B., Silva, D. C., Duker, A. L., Sillence, D., Wise, C., Jackson, A. P., Murina, O. & Reijns, M. A. M., 2 May 2019, In : Human Mutation.

    Research output: Contribution to journalArticle

  5. CRISPR screens identify genomic ribonucleotides as a source of PARP-trapping lesions

    Zimmermann, M., Murina, O., Reijns, M. A. M., Agathanggelou, A., Challis, R., Tarnauskaite, Z., Muir, M., Fluteau, A., Aregger, M., McEwan, A., Yuan, W., Clarke, M., Lambros, M. B., Paneesha, S., Moss, P., Chandrashekhar, M., Angers, S., Moffat, J., Brunton, V. G., Hart, T. & 4 others, de Bono, J., Stankovic, T., Jackson, A. P. & Durocher, D., 12 Jan 2019, In : Nature. 559, 7713, p. 285–289 9 p.

    Research output: Contribution to journalArticle

  6. Epithelial RNase H2 Maintains Genome Integrity and Prevents Intestinal Tumorigenesis in Mice

    Aden, K., Bartsch, K., Dahl, J., Reijns, M. A. M., Esser, D., Sheibani-Tezerji, R., Sinha, A., Wottawa, F., Ito, G., Mishra, N., Knittler, K., Burkholder, A., Welz, L., van Es, J., Tran, F., Lipinski, S., Kakavand, N., Boeger, C., Lucius, R., von Schoenfels, W. & 11 others, Schafmayer, C., Lenk, L., Chalaris, A., Clevers, H., Röcken, C., Kaleta, C., Rose-John, S., Schreiber, S., Kunkel, T., Rabe, B. & Rosenstiel, P., Jan 2019, In : Gastroenterology.

    Research output: Contribution to journalArticle

  7. Gain of function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of polycomb-regulated regions

    Heyn, P., Logan, C. V., Fluteau, A., Challis, R. C., Auchynnikava, T., Martin, C-A., Marsh, J. A., Taglini, F., Kilanowski, F., Parry, D., Cormier-Daire, V., Fong, C-T., Gibson, K., Hwa, V., Ibanez, L., Robertson, S. P., Sebastiani, G., Rappsilber, J., Allshire, R. C., Reijns, M. A. M. & 3 others, Dauber, A., Sproul, D. & Jackson, A. P., Jan 2019, In : Nature Genetics. 51, 1, p. 96–105 10 p.

    Research output: Contribution to journalArticle

  8. 2018
  9. DNA Polymerase epsilon deficiency causes IMAGe Syndrome with variable immunodeficiency

    Logan, C., Murray, J., Parry, D., Robertson, A., Bellelli, R., Tarnauskaite, Z., Challis, R., Cleal, L., Borel, V., Fluteau, A., Santoyo-Lopez, J., SGP Consortium, Aitman, T., Barroso, I., Basel, D., Bicknell, L., Goel, H., Hu, H., Huff, C., Hutchison, M. & 25 others, Joyce, C., Knox, R., Langlois, S., McCandless, S., McCarrier, J., Morrissey, R., Murphy, N., Netchine, I., O'Connell, S. M., Olney, A. H., Paria, N., Rosenfeld, J. A., Sherlock, M., Syverson, E., White, P., Wise, C., Yu, Y., Zacharin, M., Banerjee, I., Reijns, M., Bober, M. B., Semple, R., Boulton, S. J., Rios, J. J. & Jackson, A., 6 Dec 2018, In : American Journal of Human Genetics. 103, 6, p. 1038-1044

    Research output: Contribution to journalArticle

  10. Ribonucleotide excision repair is essential to prevent squamous cell carcinoma of the skin

    Hiller, B., Hoppe, A., Haase, C., Hiller, C., Schubert, N., Müller, W., Reijns, M. A. M., Jackson, A. P., Kunkel, T. A., Wenzel, J., Behrendt, R. & Roers, A., 1 Oct 2018, In : Cancer Research.

    Research output: Contribution to journalArticle

  11. RNase H2, mutated in Aicardi-Goutières syndrome, promotes LINE-1 retrotransposition

    Benitez-Guijarro, M., Lopez-Ruiz, C., Tamauskaite, Z., Murina, O., Mohammad, M. M., Williams, T. C., Fluteau, A., Sanchez, L., Vilar-Astasio, R., Garcia-Cañadas, M., Cano, D., Kempen, M-J., Sanchez-Pozo, A., Heras, S. R., Jackson, A. P., Reijns, M. A. M. & Garcia-Perez, J. L., 1 Aug 2018, In : EMBO Journal. 37, 22 p., e98506.

    Research output: Contribution to journalArticle

  12. 2017
  13. Rare ADAR and RNASEH2B variants and a type I interferon signature in glioma and prostate carcinoma risk and tumorigenesis

    Beyer, U., Brand, F., Martens, H., Weder, J., Christians, A., Elyan, N., Hentschel, B., Westphal, M., Schackert, G., Pietsch, T., Hong, B., Krauss, J. K., Samii, A., Raab, P., Das, A., Dumitru, C. A., Sandalcioglu, I. E., Hakenberg, O. W., Erbersdobler, A., Lehmann, U. & 7 others, Reifenberger, G., Weller, M., Reijns, M. A. M., Preller, M., Wiese, B., Hartmann, C. & Weber, R. G., Dec 2017, In : Acta Neuropathologica. 134, 6, p. 905-922 18 p.

    Research output: Contribution to journalArticle

  14. Aberrant ribonucleotide incorporation and multiple deletions in mitochondrial DNA of the murine MPV17 disease model

    Moss, C. F., Dalla Rosa, I., Hunt, L. E., Yasukawa, T., Young, R., Jones, A. W. E., Reddy, K., Desai, R., Virtue, S., Elgar, G., Voshol, P., Taylor, M. S., Holt, I. J., Reijns, M. A. M. & Spinazzola, A., 2 Nov 2017, In : Nucleic Acids Research.

    Research output: Contribution to journalArticle

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