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

Por 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.
Publicado em 2011

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

Por 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
Publicado no EMBO J (2016)

PRIM1 deficiency causes a distinctive primordial dwarfism syndrome

Por 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.
Publicado no Genes Dev (2020)

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

Por 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.
Publicado em 2012

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

Por 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
Publicado no EMBO J (2018)

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

Por 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.
Publicado em 2013

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

Por 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.
Publicado no Nat Genet (2018)

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

Por 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
Publicado no Gastroenterology (2019)

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity

Por 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
Publicado no J Clin Invest (2014)

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Por 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
Publicado no Nat Genet (2017)