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Journal Article
Harley, Margaret E., Murina, Olga 
ORCID: 0000-0003-1650-2892, Leitch, Andrea, Higgs, Martin R., Bicknell, Louise S., Yigit, Goekhan, Blackford, Andrew N., Zlatanou, Anastasia, Mackenzie, Karen J., Reddy, Kaalak, Halachev, Mihail, McGlasson, Sarah ORCID: 0000-0002-0077-0991, Reijns, Martin A. M., Fluteau, Adeline, Martin, Carol-Anne ORCID: 0000-0001-5914-2757, Sabbioneda, Simone ORCID: 0000-0001-8551-5465, Elcioglu, Nursel H., Altmueller, Janine, Thiele, Holger, Greenhalgh, Lynn, Chessa, Luciana, Maghnie, Mohamad, Salim, Mahmoud, Bober, Michael B., Nuernberg, Peter, Jackson, Stephen P., Hurles, Matthew E., Wollnik, Bernd, Stewart, Grant S. and Jackson, Andrew P.
(2016).
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.
Nature Genet., 48 (1).
S. 36 - 46.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1546-1718
Kalasova, Ilona ORCID: 0000-0001-8235-1805, Hanzlikova, Hana ORCID: 0000-0001-7235-7269, Gupta, Neerja, Li, Yun, Altmueller, Janine, Reynolds, John J., Stewart, Grant S., Wollnik, Bernd, Yigit, Goekhan and Caldecott, Keith W.
(2019).
Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ.
Neurol.-Genet., 5 (2).
PHILADELPHIA:
LIPPINCOTT WILLIAMS & WILKINS.
ISSN 2376-7839
Reynolds, John J., Bicknell, Louise S., Carroll, Paula, Higgs, Martin R., Shaheen, Ranad, Murray, Jennie E., Papadopoulos, Dimitrios K., Leitch, Andrea, Murina, Olga ORCID: 0000-0003-1650-2892, Tarnauskaite, Zygimante, Wessel, Sarah R., Zlatanou, Anastasia, Vernet, Audrey, von Kriegsheim, Alex ORCID: 0000-0002-4952-8573, Mottram, Rachel M. A., 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, Altmueller, Janine, Al Balwi, Mohammed ORCID: 0000-0003-2910-0390, Brady, Angela F., Chessa, Luciana, Cox, Helen, Fischetto, Rita, Heller, Raoul, Henderson, Bertram D., Hobson, Emma, Nurnberg, Peter, Percin, E. Ferda, Peron, Angela ORCID: 0000-0002-1769-6548, Spaccini, Luigina, Quigley, Alan J., Thakur, Seema, Wise, Carol A., Yoon, Grace, Alnemer, Maha, Tomancak, Pavel ORCID: 0000-0002-2222-9370, Yigit, Goekhan, Taylor, A. Malcolm R., Reijns, Martin A. M., Simpson, Michael A., Cortez, David, Alkuraya, Fowzan S., Mathew, Christopher G., Jackson, Andrew P. and Stewart, Grant S.
(2017).
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.
Nature Genet., 49 (4).
S. 537 - 553.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1546-1718