MC_UU_00007/5 From Microcephaly to Genome Stability, Inflammation and Growth Regulation

Research output

Research output per year 2018 2018 2019 2020 2022

• 23 Article
• 1 Chapter

Research output per year

Research output per year

Search results

• 2022

  DNA damage contributes to neurotoxic inflammation in Aicardi-Goutières Syndrome astrocytes

  Giordano, A. M. S., Luciani, M., Gatto, F., Alezz, M. A., Beghè, C., Volpe, L. D., Migliara, A., Valsoni, S., Genua, M., Dzieciatkowska, M., Frati, G., Tahraoui-Bories, J., Giliani, S., Orcesi, S., Fazzi, E., Ostuni, R., D'Alessandro, A., Di Micco, R., Merelli, I., Lombardo, A., & 4 othersReijns, M. A. M., Gromak, N., Gritti, A. & Kajaste-Rudnitski, A., 9 Mar 2022, (E-pub ahead of print) In: Journal of Experimental Medicine.

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

  Open Access

  File

• Signatures of TOP1 transcription-associated mutagenesis in cancer and germline

  Reijns, M. A. M., Parry, D. A., Williams, T. C., Nadeu, F., Hindshaw, R. L., Rios Szwed, D. O., Nicholson, M. D., Carroll, P., Boyle, S., Royo, R., Cornish, A. J., Xiang, H., Ridout, K., The Genomics England Research Consortium, Colorectal Cancer Domain UK 100,000 Genomes Project, Schuh, A., Aden, K., Palles, C., Campo, E., Stankovic, T., & 2 othersTaylor, M. S. & Jackson, A. P., 9 Feb 2022, In: Nature. 602, p. 623-631

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

  Open Access

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  • INDEL Mutation 100%
  • Mutagenesis 96%
  • Ribonucleotides 93%
  • Mutation 54%
  • Trinitrotoluene 52%
• 2021

  Microcephalic Osteodysplastic Primordial Dwarfism Type II: PCNT-Related Microcephalic Osteodysplastic Primordial Dwarfism

  Duker, A., Jackson, A. P. & Bober, M., 30 Dec 2021, (E-pub ahead of print) GeneReviews. (GeneReviews).

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  Open Access

  File

• Novel Escherichia coli active site dnaE alleles with altered base and sugar selectivity

  Vaisman, A., Łazowski, K., Reijns, M. A. M., Walsh, E., McDonald, J., Moreno, K. C., Quiros, D. R., Schmidt, M., Kranz, H., Yang, W., Makiela-Dzbenska, K. & Woodgate, R., 28 Jun 2021, (E-pub ahead of print) In: Molecular Microbiology.

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

  Open Access

  File
• 2020

  cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

  Uggenti, C., Lepelley, A., Depp, M., Badrock, A. P., Rodero, M. P., El-Daher, M-T., Rice, G. I., Dhir, S., Wheeler, A. P., Dhir, A., Albawardi, W., Frémond, M-L., Seabra, L., Doig, J., Blair, N., Martin-Niclos, M. J., Della Mina, E., Rubio-Roldán, A., García-Pérez, J. L., Sproul, D., & 36 othersRehwinkel, J., Hertzog, J., Boland-Auge, A., Olaso, R., Deleuze, J., Baruteau, J., Brochard, K., Buckley, J., Cavallera, V., Cereda, C., De Waele, L. M. H., Dobbie, A., Doummar, D., Elmslie, F., Koch-Hogrebe, M., Kumar, R., Lamb, K., Livingston, J. H., Majumdar, A., Lorenço, C. M., Orcesi, S., Peudenier, S., Rostasy, K., Salmon, C. A., Scott, C., Tonduti, D., Touati, G., Valente, M., Van Der Linden Jr, H., Van Esch, H., Vermelle, M., Webb, K., Jackson, A. P., Reijns, M. A. M., Gilbert, N. & Crow, Y. J., 31 Dec 2020, In: Nature Genetics. 52, 12, p. 1364-1372 9 p.

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

  Open Access

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  • Interferon Type I 100%
  • RNA Precursors 95%
  • Histones 78%
  • Cyclic GMP 39%
  • Interferons 30%

• A sensitive and affordable multiplex RT-qPCR assay for SARS-CoV-2 detection

  Reijns, M. A. M., Thompson, L., Acosta, J. C., Black, H. A., Sanchez-Luque, F. J., Diamond, A., Parry, D. A., Daniels, A., O'Shea, M., Uggenti, C., Sanchez, M. C., O'Callaghan, A., McNab, M. L. L., Adamowicz, M., Friman, E. T., Hurd, T., Jarman, E. J., Chee, F. L. M., Rainger, J. K., Walker, M., & 18 othersDrake, C., Longman, D., Mordstein, C., Warlow, S. J., McKay, S., Slater, L., Ansari, M., Tomlinson, I. P. M., Moore, D., Wilkinson, N., Shepherd, J., Templeton, K., Johannessen, I., Tait-Burkard, C., Haas, J. G., Gilbert, N., Adams, I. R. & Jackson, A. P., 15 Dec 2020, (E-pub ahead of print) In: PLoS Biology. 18, 12, p. e3001030

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

  Open Access

  • Severe acute respiratory syndrome coronavirus 100%
  • Severe Acute Respiratory Syndrome 74%
  • Coronavirus 72%
  • Nucleic Acid 48%
  • assays 30%

• PRIM1 Deficiency Causes a Distinctive Primordial Dwarfism Syndrome

  Parry, D. A., Tamayo Orrego, L., Carroll, P., Marsh, J. A., Greene, P., Murina, O., Uggenti, C., Leitch, A., 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., 1 Nov 2020, In: Genes & Development. 34, p. 1520-1533 14 p.

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

  Open Access

  File

  • Dwarfism 100%
  • DNA Primase 54%
  • Catalytic DNA 53%
  • Cell Proliferation 47%
  • DNA-Directed DNA Polymerase 40%

• Heterozygous Lamin B1 and Lamin B2 Variants cause Primary Microcephaly and Define a Novel Laminopathy

  Genomics England Research Consortium, Blyth, M., Cox, H., Donnelly, D. E., Greenhalgh, L., Greville-Heygate, S., Harrison, V., Lachlan, K., McKenna, C., Quigley, A., Rea, G., Robertson, L., Suri, M. & Jackson, A. P., 9 Oct 2020, (E-pub ahead of print) In: Genetics in Medicine. 23, 2, p. 408–414

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

  Open Access

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  • lamin B2 100%
  • lamin B1 92%
  • Lamins 80%
  • Microcephaly 67%
  • Lamin Type B 22%

• Growth in individuals with Saul-Wilson syndrome

  Ferreira, C. R., Niiler, T., Duker, A. L., Jackson, A. P. & Bober, M. B., 1 Sep 2020, In: The American Journal of Medical Genetics - Part A (AJMG).

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

  Open Access

  File

  • Dwarfism 100%
  • Growth 72%
  • Weights and Measures 68%
  • Brachydactyly 56%
  • Clubfoot 49%

• Sonic hedgehog accelerates DNA replication to cause replication stress promoting cancer initiation in medulloblastoma

  Tamayo Orrego, L., Gallo, D., Racicot, F., Bemmo, A., Mohan, S., Ho, B., Salameh, S., Hoang, T., Jackson, A. P., Brown, G. W. & Charron, F., 30 Jul 2020, In: nature cancer.

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

  Open Access

  File

• Defining the clinical phenotype of Saul-Wilson syndrome

  Ferreira, C. R., Zein, W. M., Huryn, L. A., Merker, A., Berger, S. I., Wilson, W. G., Tiller, G. E., Wolfe, L. A., Merideth, M., Carvalho, D. R., Duker, A. L., Bratke, H., Haug, M. G., Rohena, L., Hove, H. B., Xia, Z-J., Ng, B. G., Freeze, H. H., Gabriel, M., Russi, A. H. S., & 11 othersBrick, L., Kozenko, M., Earl, D. L., Tham, E., Nishimura, G., Phillips, J. A., Gahl, W. A., Hamid, R., Jackson, A., Grigelioniene, G. & Bober, M. B., 1 May 2020, In: Genetics in Medicine.

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

  Open Access

  File

• Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome

  Knapp, K. M., Sullivan, R., Murray, J., Gimenez, G., Arn, P., D'Souza, P., Gezdirici, A., Wilson, W. G., Jackson, A., Ferreira, C. R. & Bicknell, L., 1 Mar 2020, In: Journal of Medical Genetics.

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

  Open Access
• 2019

  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., de Silva, D. C., Duker, A. L., Sillence, D., Wise, C., Jackson, A. P., Murina, O. & Reijns, M. A. M., Aug 2019, In: Human Mutation: Variation, Informatics and Disease. 40, 8, p. 1063-1070

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

  Open Access

  File

  • Dwarfism 100%
  • Adenosine Diphosphate 47%
  • Adenosine Triphosphate 37%
  • Body Size 27%
  • DNA Replication 24%

• ITPase Deficiency Causes a Martsolf-Like Syndrome With a Lethal Infantile Dilated Cardiomyopathy

  Handley, M., Reddy, K., Wills, J., Rosser, E., Kamath, A., Halachev, M., Falkous, G., Williams, D., Cox, P., Meynert, A., Raymond, E., Morrison, H., Brown, S., Allan, E., Aligianis, I., Jackson, A. P., Ramsahoye, B. H., Von Kriegsheim, A., Taylor, R. W., Finch, A. J., & 1 othersFitzPatrick, D. R., 11 Mar 2019, (E-pub ahead of print) In: PLoS Genetics.

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

  Open Access

  File

• Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

  University of Washington Center for Mendelian Genomics, 7 Mar 2019, In: American Journal of Human Genetics.

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

  Open Access

  File

  • Zebrafish 100%
  • Strudwick syndrome 94%
  • Coxa Vara 80%
  • Agammaglobulinemia 66%
  • Camptothecin 64%

• Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

  Haworth, S., Shapland, C. Y., Hayward, C., Prins, B. P., Felix, J. F., Medina-Gómez, C., Rivadeneira, F., Wang, C., Ahluwalia, T. S., Vrijheid, M., Guxens, M., Sunyer, J., Tachmazidou, I., Walter, K., Iotchkova, V., Jackson, A., Cleal, L., Huffman, J., Min, J. L., Sass, L., & 17 othersTimmers, P. R. H. J., UK10K Consortium, Davey Smith, G., Fisher, S. E., Wilson, J. F., Cole, T. J., Fernandez-Orth, D., Bønnelykke, K., Bisgaard, H., Pennell, C. E., Jaddoe, V. W. V., Dedoussis, G., Timpson, N., Zeggini, E., Vitart, V., St Pourcain, B. & McKechanie, A. G., 21 Jan 2019, In: Nature Communications. 10, 16 p., 357.

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

  Open Access

  File

  • Intracranial 100%
  • circumferences 74%
  • Head 45%
  • low frequencies 43%
  • Volume 35%

• 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 othersde 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 journal › Article › peer-review

  Open Access

  File

  • Ribonucleotides 100%
  • Poly(ADP-ribose) Polymerase Inhibitors 91%
  • Poly(ADP-ribose) Polymerases 82%
  • Homologous Recombination 31%
  • Ribonucleases 31%

• 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 othersDauber, A., Sproul, D. & Jackson, A. P., Jan 2019, In: Nature Genetics. 51, 1, p. 96–105 10 p.

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

  Open Access

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  • Dwarfism 100%
  • Gain of Function Mutation 95%
  • DNA Methylation 71%
  • histone H3 trimethyl Lys4 17%
  • Developmental Genes 16%
• 2018

  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., & 26 othersJoyce, 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. & Robertson, A., 6 Dec 2018, In: American Journal of Human Genetics. 103, 6, p. 1038-1044

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

  Open Access

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  • Variable Immunodeficiency syndrome 100%
  • DNA Polymerase II 90%
  • Mutation 31%
  • Pyle disease 24%
  • Gain of Function Mutation 18%

• A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

  Undiagnosed Diseases Network, 4 Oct 2018, In: American Journal of Human Genetics. 103, 4, p. 553-567 15 p.

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

  Open Access

  File

  • Golgi Apparatus 100%
  • Proteoglycans 96%
  • Glycosylation 90%
  • Fibroblasts 65%
  • Decorin 61%

• Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

  GOSgene, Martin, C-A., Sarlós, K., Logan, C. V., Thakur, R. S., Parry, D. A., Bizard, A. H., Leitch, A., Cleal, L., Ali, N. S., Al-Owain, M. A., Allen, W., Altmüller, J., Aza-Carmona, M., Barakat, B. A. Y., Barraza-García, J., Begtrup, A., Bogliolo, M., Cho, M. T., Cruz-Rojo, J., & 31 othersDhahrabi, H. A. M., Elcioglu, N. H., Gorman, G. S., Jobling, R., Kesterton, I., Kishita, Y., Kohda, M., Le Quesne Stabej, P., Malallah, A. J., Nürnberg, P., Ohtake, A., Okazaki, Y., Pujol, R., Ramirez, M. J., Revah-Politi, A., Shimura, M., Stevens, P., Taylor, R. W., Turner, L., Williams, H., Wilson, C., Yigit, G., Zahavich, L., Alkuraya, F. S., Surralles, J., Iglesais, A., Murayama, K., Wollnik, B., Dattani, M., Heath, K. E. & Jackson, A. P., 2 Aug 2018, In: American Journal of Human Genetics.

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

  Open Access

  File

  • Bloom Syndrome 100%
  • Sister Chromatid Exchange 51%
  • Type I DNA Topoisomerase 51%
  • Mutation 36%
  • Cytogenetics 25%

• 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 journal › Article › peer-review

  Open Access

  File

  • Aicardi Syndrome 100%
  • Ribonucleases 64%
  • Disorder 49%
  • Mutation 48%
  • Nucleic Acid 48%

• Polε Instability Drives Replication Stress, Abnormal Development, and Tumorigenesis

  Bellelli, R., Borel, V., Logan, C., Svendsen, J., Cox, D. E., Nye, E., Metcalfe, K., O'Connell, S. M., Stamp, G., Flynn, H. R., Snijders, A. P., Lassailly, F., Jackson, A. & Boulton, S. J., 17 May 2018, In: Molecular Cell. 70, 4, p. 707-721.e7

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

  Open Access

  File

  • Carcinogenesis 100%
  • Replication Origin 40%
  • Saccharomycetales 39%
  • DNA-Directed DNA Polymerase 36%
  • Leukopenia 35%

• The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome

  Farach, L. S., Little, M. E., Duker, A. L., Logan, C. V., Jackson, A., Hecht, J. T. & Bober, M., Feb 2018, In: The American Journal of Medical Genetics - Part A (AJMG). 176, 2

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

  • Lowry Wood syndrome 100%
  • Roifman syndrome 63%
  • Type 1 Microcephalic osteodysplastic primordial dwarfism 59%
  • Microcephaly 35%
  • Phenotype 26%