Article

Oberoi, Jasmeen, Aran Guiu, Xavi, Outwin, Emily A, Schellenberger, Pascale, Roumeliotis, Theodoros I, Choudhary, Jyoti S and Pearl, Laurence H (2022) HSP90-CDC37-PP5 forms a structural platform for kinase dephosphorylation. Nature Communications, 13. a7343 1-13. ISSN 2041-1723

Van Esch, Hilde, Colnaghi, Rita, Freson, Kathleen, Starokadomskyy, Petro, Zankl, Andreas, Backx, Liesbeth, Abramowicz, Iga, Outwin, Emily, Rohena, Luis, Faulkner, Claire, Leong, Gary M, Newbury-Ecob, Ruth A, Challis, Rachel C, Õunap, Katrin, Jaeken, Jacques, Seuntjens, Eve, Devriendt, Koen, Burstein, Ezra, Low, Karen J and O'Driscoll, Mark (2019) Defective DNA polymerase α-primase leads to X-linked intellectual disability associated with severe growth retardation, microcephaly, and hypogonadism. American Journal of Human Genetics, 104 (5). pp. 957-967. ISSN 1537-6605

Abramowicz, Iga, Carpenter, Gillian, Alfieri, Mariaevelina, Colnaghi, Rita, Outwin, Emily, Parent, Philippe, Thauvin-Robinet, Christel, Iaconis, Daniela, Franco, Brunella and O'Driscoll, Mark (2017) Oral-Facial-Digital syndrome Type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network. Human Molecular Genetics, 26 (1). pp. 19-32. ISSN 0964-6906

Stiff, Tom, Alagoz, Meryem, Alcantara, Diana, Outwin, Emily, Brunner, Han G, Bongers, Ernie M H F, O'Driscoll, Mark and Jeggo, Penny A (2013) Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of meier-gorlin syndrome. PLoS Genetics, 9 (3). e1003360. ISSN 1553-7404

Outwin, Emily, Carpenter, Gillian, Bi, Weimin, Withers, Marjorie A, Lupski, James R and O'Driscoll, Mark (2011) Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome. PLoS Genetics, 7 (8). e1002247. ISSN 1553-7390

Kerzendorfer, Claudia, Hart, Lesley, Colnaghi, Rita, Carpenter, Gillian, Alcantara, Diana, Outwin, Emily, Carr, Antony M and O'Driscoll, Mark (2011) CUL4B-deficiency in humans: Understanding the clinical consequences of impaired Cullin 4-RING E3 ubiquitin ligase function. Mechanisms of Ageing and Disease.

Tapia-Alveal, Claudia, Outwin, Emily A, Trempolec, Natalia, Dziadkowiec, Dorota, Murray, Johanne M and O'Connell, Matthew J (2010) SMC complexes and topoisomerase II work together so that sister chromatids can work apart. Cell Cycle, 9 (11). 2065 -2070. ISSN 1538-4101

Skilton, Andrew, Outwin, Emily, Mercer, Brenda, Ho, J C Y and Watts, Felicity (2009) SUMO chain formation is required for response to replication arrest in S. pombe. PLoS ONE, 4 (8). e6750. ISSN 1932-6203

Outwin, Emily A, Irmisch, Anja, Murray, Johanne M and O'Connell, Matthew J (2009) Smc5-Smc6-dependent removal of cohesin from mitotic chromosomes. Molecular and Cellular Biology, 29 (16). pp. 4363-4375. ISSN 0270-7306