Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis

od Mill, Pleasantine, Lockhart, Paul J., Fitzpatrick, Elizabeth, Mountford, Hayley S., Hall, Emma A., Reijns, Martin A.M., Keighren, Margaret, Bahlo, Melanie, Bromhead, Catherine J., Budd, Peter, Aftimos, Salim, Delatycki, Martin B., Savarirayan, Ravi, Jackson, Ian J., Amor, David J.
Izdano 2011

Ribonuclease H2 mutations induce a cGAS/STING‐dependent innate immune response

od 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
Izdano u EMBO J (2016)

PRIM1 deficiency causes a distinctive primordial dwarfism syndrome

od Parry, David A., Tamayo-Orrego, Lukas, Carroll, Paula, Marsh, Joseph A., Greene, Philip, Murina, Olga, Uggenti, Carolina, Leitch, Andrea, Káposzta, Rita, Merő, Gabriella, Nagy, Andrea, Orlik, Brigitta, Kovács-Pászthy, Balázs, Quigley, Alan J., Riszter, Magdolna, Rankin, Julia, Reijns, Martin A.M., Szakszon, Katalin, Jackson, Andrew P.
Izdano u Genes Dev (2020)

Enzymatic Removal of Ribonucleotides from DNA Is Essential for Mammalian Genome Integrity and Development

od 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.
Izdano 2012

RNase H2, mutated in Aicardi‐Goutières syndrome, promotes LINE‐1 retrotransposition

od Benitez‐Guijarro, Maria, Lopez‐Ruiz, Cesar, Tarnauskaitė, Žygimantė, Murina, Olga, Mian Mohammad, Mahwish, Williams, Thomas C, Fluteau, Adeline, Sanchez, Laura, Vilar‐Astasio, Raquel, Garcia‐Canadas, Marta, Cano, David, Kempen, Marie‐Jeanne HC, Sanchez‐Pozo, Antonio, Heras, Sara R, Jackson, Andrew P, Reijns, Martin AM, Garcia‐Perez, Jose L
Izdano u EMBO J (2018)

Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome

od Rice, Gillian I., Reijns, Martin A.M., Coffin, Stephanie R., Forte, Gabriella M.A., Anderson, Beverley H., Szynkiewicz, Marcin, Gornall, Hannah, Gent, David, Leitch, Andrea, Botella, Maria P., Fazzi, Elisa, Gener, Blanca, Lagae, Lieven, Olivieri, Ivana, Orcesi, Simona, Swoboda, Kathryn J., Perrino, Fred W., Jackson, Andrew P., Crow, Yanick J.
Izdano 2013

Gain of function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

od 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.
Izdano u Nat Genet (2018)

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

od Aden, Konrad, Bartsch, Kareen, Dahl, Joseph, Reijns, Martin A.M., Esser, Daniela, Sheibani-Tezerji, Raheleh, Sinha, Anupam, Wottawa, Felix, Ito, Go, Mishra, Neha, Knittler, Katharina, Burkholder, Adam, Welz, Lina, van Es, Johan, Tran, Florian, Lipinski, Simone, Kakavand, Nassim, Boeger, Christine, Lucius, Ralph, von Schoenfels, Witigo, Schafmayer, Clemens, Lenk, Lennart, Chalaris, Athena, Clevers, Hans, Röcken, Christoph, Kaleta, Christoph, Rose-John, Stefan, Schreiber, Stefan, Kunkel, Thomas, Rabe, Björn, Rosenstiel, Philip
Izdano u Gastroenterology (2019)

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity

od Günther, Claudia, Kind, Barbara, Reijns, Martin A.M., Berndt, Nicole, Martinez-Bueno, Manuel, Wolf, Christine, Tüngler, Victoria, Chara, Osvaldo, Lee, Young Ae, Hübner, Norbert, Bicknell, Louise, Blum, Sophia, Krug, Claudia, Schmidt, Franziska, Kretschmer, Stefanie, Koss, Sarah, Astell, Katy R., Ramantani, Georgia, Bauerfeind, Anja, Morris, David L., Cunninghame Graham, Deborah S., Bubeck, Doryen, Leitch, Andrea, Ralston, Stuart H., Blackburn, Elizabeth A., Gahr, Manfred, Witte, Torsten, Vyse, Timothy J., Melchers, Inga, Mangold, Elisabeth, Nöthen, Markus M., Aringer, Martin, Kuhn, Annegret, Lüthke, Kirsten, Unger, Leonore, Bley, Annette, Lorenzi, Alice, Isaacs, John D., Alexopoulou, Dimitra, Conrad, Karsten, Dahl, Andreas, Roers, Axel, Alarcon-Riquelme, Marta E., Jackson, Andrew P., Lee-Kirsch, Min Ae
Izdano u J Clin Invest (2014)

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

od Reynolds, John J, Bicknell, Louise S, Carroll, Paula, Higgs, Martin R, Shaheen, Ranad, Murray, Jennie E, Papadopoulos, Dimitrios K, Leitch, Andrea, Murina, Olga, Tarnauskaitė, Žygimantė, Wessel, Sarah R, Zlatanou, Anastasia, Vernet, Audrey, von Kriegsheim, Alex, Mottram, Rachel MA, Logan, Clare V, Bye, Hannah, Li, Yun, Brean, Alexander, Maddirevula, Sateesh, Challis, Rachel C, Skouloudaki, Kassiani, Almoisheer, Agaadir, Alsaif, Hessa S, Amar, Ariella, Prescott, Natalie J, Bober, Michael B, Duker, Angela, Faqeih, Eissa, Seidahmed, Mohammed Zain, Al Tala, Saeed, Alswaid, Abdulrahman, Ahmed, Saleem, Al-Aama, Jumana Yousuf, Altmüller, Janine, Al Balwi, Mohammed, Brady, Angela F, Chessa, Luciana, Cox, Helen, Fischetto, Rita, Heller, Raoul, Henderson, Bertram D, Hobson, Emma, Nürnberg, Peter, Percin, E Ferda, Peron, Angela, Spaccini, Luigina, Quigley, Alan J, Thakur, Seema, Wise, Carol A, Yoon, Grace, Alnemer, Maha, Tomancak, Pavel, Yigit, Gökhan, Taylor, A Malcolm R, Reijns, Martin AM, Simpson, Michael A, Cortez, David, Alkuraya, Fowzan S, Mathew, Christopher G, Jackson, Andrew P, Stewart, Grant S
Izdano u Nat Genet (2017)