A

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

Alcantara, Diana, Timms, Andrew E, Gripp, Karen, Baker, Laura, Park, Kaylee, Collins, Sarah, Cheng, Chi, Stewart, Fiona, Mehta, Sarju G, Saggar, Anand, Sztriha, László, Zombor, Melinda, Caluseriu, Oana, Mesterman, Ronit, Van Allen, Margot I, Jacquinet, Adeline, Ygberg, Sofia, Bernstein, Jonathan A, Wenger, Aaron M, Guturu, Harendra, Bejerano, Gill, Gomez-Ospina, Natalia, Lehman, Anna, Alfei, Enrico, Pantaleoni, Chiara, Conti, Valerio, Guerrini, Renzo, Moog, Ute, Graham Jr., John M, Hevner, Robert, Dobyns, William B, O'Driscoll, Mark and Mirzaa, Ghayda M (2017) Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. Brain, 140 (10). pp. 2610-2622. ISSN 0006-8950

B

Baple, Emma L, Chambers, Helen, Cross, Harold E, Fawcett, Heather, Nakazawa, Yuka, Chioza, Barry A, Harlalka, Gaurav V, Mansour, Sahar, Sreekantan-Nair, Ajith, Patton, Michael A, Muggenthaler, Martina, Rich, Phillip, Wagner, Karin, Coblentz, Roselyn, Stein, Constance K, Last, James I, Taylor, A Malcolm R, Jackson, Andrew P, Ogi, Tomoo, Lehmann, Alan R, Green, Catherine M and Crosby, Andrew H (2014) Hypomorphic PCNA mutation underlies a novel human DNA repair disorder. Journal of Clinical Investigation, 124 (7). pp. 3137-3146. ISSN 0021-9738

S

Sacristan-Reviriego, Almudena, Bellingham, James, Prodromou, Chrisostomos, Kumaran, Neruban, Bainbridge, James, Michaelides, Michel and van der Spuy, Jacqueline (2017) The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6. Human Molecular Genetics, 26 (22). pp. 4465-4480. ISSN 0964-6906

Sethi, Mieran, Hague, Shaheen, Fawcett, Heather, Wing, Jonathan F, Chandler, Natalie, Mohammed, Shehla, Frayling, Ian M, Norris, Paul G, McGibbon, David, Young, Antony R, Sarkany, Robert P E, Lehmann, Alan R and Fassihi, Hiva (2016) [Letter] A distinct genotype of XP complementation group A: surprisingly mild phenotype highly prevalent in Northern India/ Pakistan/ Afghanistan. Journal Of Investigative Dermatology, 136 (4). pp. 869-872. ISSN 0022-202X

Simmonds, Margaret (2012) Girls/women in inverted commas – facing ‘reality’ as an XY-female. Doctoral thesis (PhD), University of Sussex.