Mechanisms and pathways of growth failure in primordial dwarfism von Klingseisen, Anna, Jackson, Andrew P

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Genome evolution in trypanosomatid parasites von JACKSON, ANDREW P.

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cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing von Uggenti, Carolina, Lepelley, Alice, Depp, Marine, Badrock, Andrew P., Rodero, Mathieu P., El-Daher, Marie-Thérèse, Rice, Gillian I., Dhir, Somdutta, Wheeler, Ann P., Dhir, Ashish, Albawardi, Waad, Frémond, Marie-Louise, Seabra, Luis, Doig, Jennifer, Blair, Natalie, Martin-Niclos, Maria José, Della Mina, Erika, Rubio-Roldán, Alejandro, García-Pérez, Jose L., Sproul, Duncan, Rehwinkel, Jan, Hertzog, Jonny, Boland-Auge, Anne, Olaso, Robert, Deleuze, Jean-François, Baruteau, Julien, Brochard, Karine, Buckley, Jonathan, Cavallera, Vanessa, Cereda, Cristina, De Waele, Liesbeth M. H., Dobbie, Angus, Doummar, Diane, Elmslie, Frances, Koch-Hogrebe, Margarete, Kumar, Ram, Lamb, Kate, Livingston, John H., Majumdar, Anirban, Lorenço, Charles Marques, Orcesi, Simona, Peudenier, Sylviane, Rostasy, Kevin, Salmon, Caroline A., Scott, Christiaan, Tonduti, Davide, Touati, Guy, Valente, Marialuisa, van der Linden, Hélio, Van Esch, Hilde, Vermelle, Marie, Webb, Kate, Jackson, Andrew P., Reijns, Martin A. M., Gilbert, Nick, Crow, Yanick J.

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Ribonucleotides Misincorporated into DNA Act as Strand-Discrimination Signals in Eukaryotic Mismatch Repair von Ghodgaonkar, Medini Manohar, Lazzaro, Federico, Olivera-Pimentel, Maite, Artola-Borán, Mariela, Cejka, Petr, Reijns, Martin A., Jackson, Andrew P., Plevani, Paolo, Muzi-Falconi, Marco, Jiricny, Josef

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Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions von Heyn, Patricia, Logan, Clare V., Fluteau, Adeline, Challis, Rachel C., Auchynnikava, Tatsiana, Martin, Carol-Anne, Marsh, Joseph A., Taglini, Francesca, Kilanowski, Fiona, Parry, David A., Cormier-Daire, Valerie, Fong, Chin-To, Gibson, Kate, Hwa, Vivian, Ibáñez, Lourdes, Robertson, Stephen P., Sebastiani, Giorgia, Rappsilber, Juri, Allshire, Robin C., Reijns, Martin A. M., Dauber, Andrew, Sproul, Duncan, Jackson, Andrew P.

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Enzymatic Removal of Ribonucleotides from DNA Is Essential for Mammalian Genome Integrity and Development von Reijns, Martin A.M., Rabe, Björn, Rigby, Rachel E., Mill, Pleasantine, Astell, Katy R., Lettice, Laura A., Boyle, Shelagh, Leitch, Andrea, Keighren, Margaret, Kilanowski, Fiona, Devenney, Paul S., Sexton, David, Grimes, Graeme, Holt, Ian J., Hill, Robert E., Taylor, Martin S., Lawson, Kirstie A., Dorin, Julia R., Jackson, Andrew P.

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The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data von Köhler, Sebastian, Doelken, Sandra C, Mungall, Christopher J, Bauer, Sebastian, Firth, Helen V, Bailleul-Forestier, Isabelle, Black, Graeme C M, Brown, Danielle L, Brudno, Michael, Campbell, Jennifer, FitzPatrick, David R, Eppig, Janan T, Jackson, Andrew P, Freson, Kathleen, Girdea, Marta, Helbig, Ingo, Hurst, Jane A, Jähn, Johanna, Jackson, Laird G, Kelly, Anne M, Ledbetter, David H, Mansour, Sahar, Martin, Christa L, Moss, Celia, Mumford, Andrew, Ouwehand, Willem H, Park, Soo-Mi, Riggs, Erin Rooney, Scott, Richard H, Sisodiya, Sanjay, Van Vooren, Steven, Wapner, Ronald J, Wilkie, Andrew O M, Wright, Caroline F, Vulto-van Silfhout, Anneke T, de Leeuw, Nicole, de Vries, Bert B A, Washingthon, Nicole L, Smith, Cynthia L, Westerfield, Monte, Schofield, Paul, Ruef, Barbara J, Gkoutos, Georgios V, Haendel, Melissa, Smedley, Damian, Lewis, Suzanna E, Robinson, Peter N

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Ribonuclease H2 mutations induce a cGAS/STING-dependent innate immune response von Mackenzie, Karen J, Carroll, Paula, Lettice, Laura, Tarnauskaitė, Žygimantė, Reddy, Kaalak, Dix, Flora, Revuelta, Ailsa, Abbondati, Erika, Rigby, Rachel E, Rabe, Björn, Kilanowski, Fiona, Grimes, Graeme, Fluteau, Adeline, Devenney, Paul S, Hill, Robert E, Reijns, Martin AM, Jackson, Andrew P

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Lagging-strand replication shapes the mutational landscape of the genome von Reijns, Martin A. M., Kemp, Harriet, Ding, James, Marion de Procé, Sophie, Jackson, Andrew P., Taylor, Martin S.

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Kinetoplastid Phylogenomics Reveals the Evolutionary Innovations Associated with the Origins of Parasitism von Jackson, Andrew P., Otto, Thomas D., Aslett, Martin, Armstrong, Stuart D., Bringaud, Frederic, Schlacht, Alexander, Hartley, Catherine, Sanders, Mandy, Wastling, Jonathan M., Dacks, Joel B., Acosta-Serrano, Alvaro, Field, Mark C., Ginger, Michael L., Berriman, Matthew

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Type I interferon causes thrombotic microangiopathy by a dose-dependent toxic effect on the microvasculature von Kavanagh, David, McGlasson, Sarah, Jury, Alexa, Williams, Jac, Scolding, Neil, Bellamy, Chris, Gunther, Claudia, Ritchie, Diane, Gale, Daniel P., Kanwar, Yashpal S., Challis, Rachel, Buist, Holly, Overell, James, Weller, Belinda, Flossmann, Oliver, Blunden, Mark, Meyer, Eric P., Krucker, Thomas, Evans, Stephen J.W., Campbell, Iain L., Jackson, Andrew P., Chandran, Siddharthan, Hunt, David P.J.

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Transcriptome, proteome and draft genome of Euglena gracilis von Ebenezer, ThankGod E, Zoltner, Martin, Burrell, Alana, Nenarokova, Anna, Novák Vanclová, Anna M G, Prasad, Binod, Soukal, Petr, Santana-Molina, Carlos, O'Neill, Ellis, Nankissoor, Nerissa N, Vadakedath, Nithya, Daiker, Viktor, Obado, Samson, Silva-Pereira, Sara, Jackson, Andrew P, Devos, Damien P, Lukeš, Julius, Lebert, Michael, Vaughan, Sue, Hampl, Vladimίr, Carrington, Mark, Ginger, Michael L, Dacks, Joel B, Kelly, Steven, Field, Mark C

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Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis von Martin, Carol-Anne, Murray, Jennie E, Carroll, Paula, Leitch, Andrea, Mackenzie, Karen J, Halachev, Mihail, Fetit, Ahmed E, Keith, Charlotte, Bicknell, Louise S, Fluteau, Adeline, Gautier, Philippe, Hall, Emma A, Joss, Shelagh, Soares, Gabriela, Silva, João, Bober, Michael B, Duker, Angela, Wise, Carol A, Quigley, Alan J, Phadke, Shubha R, Wood, Andrew J, Vagnarelli, Paola, Jackson, Andrew P

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DONSON and FANCM associate with different replisomes distinguished by replication timing and chromatin domain von Zhang, Jing, Bellani, Marina A., James, Ryan C., Pokharel, Durga, Zhang, Yongqing, Reynolds, John J., McNee, Gavin S., Jackson, Andrew P., Stewart, Grant S., Seidman, Michael M.

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Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis von Fenwick, Aimee L., Kliszczak, Maciej, Cooper, Fay, Murray, Jennie, Sanchez-Pulido, Luis, Twigg, Stephen R.F., Goriely, Anne, McGowan, Simon J., Miller, Kerry A., Taylor, Indira B., Logan, Clare, Bozdogan, Sevcan, Danda, Sumita, Dixon, Joanne, Elsayed, Solaf M., Elsobky, Ezzat, Gardham, Alice, Hoffer, Mariette J.V., Koopmans, Marije, McDonald-McGinn, Donna M., Santen, Gijs W.E., Savarirayan, Ravi, de Silva, Deepthi, Vanakker, Olivier, Wall, Steven A., Wilson, Louise C., Yuregir, Ozge Ozalp, Zackai, Elaine H., Ponting, Chris P., Jackson, Andrew P., Wilkie, Andrew O.M., Niedzwiedz, Wojciech, Bicknell, Louise S.

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Vivaxin genes encode highly immunogenic, non-variant antigens on the Trypanosoma vivax cell-surface von Romero-Ramirez, Alessandra, Casas-Sánchez, Aitor, Autheman, Delphine, Duffy, Craig W, Brandt, Cordelia, Clare, Simon, Harcourt, Katherine, André, Marcos Rogério, de Almeida Castilho Neto, Kayo José Garcia, Teixeira, Marta M. G, Machado, Rosangela Zacharias, Coombes, Janine, Flynn, Robin J, Wright, Gavin J, Jackson, Andrew P

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Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy von Grange, Laura J., Reynolds, John J., Ullah, Farid, Isidor, Bertrand, Shearer, Robert F., Latypova, Xenia, Baxley, Ryan M., Oliver, Antony W., Ganesh, Anil, Cooke, Sophie L., Jhujh, Satpal S., McNee, Gavin S., Hollingworth, Robert, Higgs, Martin R., Natsume, Toyoaki, Khan, Tahir, Martos-Moreno, Gabriel Á., Chupp, Sharon, Mathew, Christopher G., Parry, David, Simpson, Michael A., Nahavandi, Nahid, Yüksel, Zafer, Drasdo, Mojgan, Kron, Anja, Vogt, Petra, Jonasson, Annemarie, Seth, Saad Ahmed, Gonzaga-Jauregui, Claudia, Brigatti, Karlla W., Stegmann, Alexander P. A., Kanemaki, Masato, Josifova, Dragana, Uchiyama, Yuri, Oh, Yukiko, Morimoto, Akira, Osaka, Hitoshi, Ammous, Zineb, Argente, Jesús, Matsumoto, Naomichi, Stumpel, Constance T.R.M., Taylor, Alexander M. R., Jackson, Andrew P., Bielinsky, Anja-Katrin, Mailand, Niels, Le Caignec, Cedric, Davis, Erica E., Stewart, Grant S.

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Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy von Martin, Carol-Anne, Ahmad, Ilyas, Klingseisen, Anna, Hussain, Muhammad Sajid, Bicknell, Louise S, Leitch, Andrea, Nürnberg, Gudrun, Toliat, Mohammad Reza, Murray, Jennie E, Hunt, David, Khan, Fawad, Ali, Zafar, Tinschert, Sigrid, Ding, James, Keith, Charlotte, Harley, Margaret E, Heyn, Patricia, Müller, Rolf, Hoffmann, Ingrid, Daire, Valérie Cormier, Dollfus, Hélène, Dupuis, Lucie, Bashamboo, Anu, McElreavey, Kenneth, Kariminejad, Ariana, Mendoza-Londono, Roberto, Moore, Anthony T, Saggar, Anand, Schlechter, Catie, Weleber, Richard, Thiele, Holger, Altmüller, Janine, Höhne, Wolfgang, Hurles, Matthew E, Noegel, Angelika Anna, Baig, Shahid Mahmood, Nürnberg, Peter, Jackson, Andrew P

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A sensitive and affordable multiplex RT-qPCR assay for SARS-CoV-2 detection von Reijns, Martin A. M., Thompson, Louise, Acosta, Juan Carlos, Black, Holly A., Sanchez-Luque, Francisco J., Diamond, Austin, Parry, David A., Daniels, Alison, O'Shea, Marie, Uggenti, Carolina, Sanchez, Maria C., O'Callaghan, Alan, McNab, Michelle L. L., Adamowicz, Martyna, Friman, Elias T., Hurd, Toby, Jarman, Edward J., Chee, Frederic Li Mow, Rainger, Jacqueline K., Walker, Marion, Drake, Camilla, Longman, Dasa, Mordstein, Christine, Warlow, Sophie J., McKay, Stewart, Slater, Louise, Ansari, Morad, Tomlinson, Ian P. M., Moore, David, Wilkinson, Nadine, Shepherd, Jill, Templeton, Kate, Johannessen, Ingolfur, Tait-Burkard, Christine, Haas, Jurgen G., Gilbert, Nick, Adams, Ian R., Jackson, Andrew P.

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Mutations in the NHEJ Component XRCC4 Cause Primordial Dwarfism von Murray, Jennie E., van der Burg, Mirjam, IJspeert, Hanna, Carroll, Paula, Wu, Qian, Ochi, Takashi, Leitch, Andrea, Miller, Edward S., Kysela, Boris, Jawad, Alireza, Bottani, Armand, Brancati, Francesco, Cappa, Marco, Cormier-Daire, Valerie, Deshpande, Charu, Faqeih, Eissa A., Graham, Gail E., Ranza, Emmanuelle, Blundell, Tom L., Jackson, Andrew P., Stewart, Grant S., Bicknell, Louise S.

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