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

由 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.
出版 2011

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

由 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
發表在 EMBO J (2016)

PRIM1 deficiency causes a distinctive primordial dwarfism syndrome

由 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.
發表在 Genes Dev (2020)

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

由 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.
出版 2012

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

由 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
發表在 EMBO J (2018)

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

由 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.
出版 2013

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

由 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.
發表在 Nat Genet (2018)

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

由 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
發表在 Gastroenterology (2019)

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity

由 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
發表在 J Clin Invest (2014)

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

由 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
發表在 Nat Genet (2017)