Article

Alcantara, Diana R, Jones, Christopher I, Altmann, Daniel M, Boyton, Rosemary J, Haniffa, Muzlifah and Newport, Melanie J (2020) Multiplexed gene expression analysis of HLA class II-associated podoconiosis implicates chronic immune activation in its pathogenesis. Transactions of the Royal Society of Tropical Medicine and Hygiene, 114 (12). pp. 926-936. ISSN 0035-9203

Karasozen, Yigit, Osbun, Joshua W, Parada, Carolina Angelica, Busald, Tina, Tatman, Philip, Gonzalez-Cuyar, Luis F, Hale, Christopher J, Alcantara, Diana, O'Driscoll, Mark, Dobyns, William B, Murray, Mitzi, Kim, Louis J, Byers, Peter, Dorschner, Michael O and Ferreira, Manuel (2019) Somatic PDGFRB activating variants in fusiform cerebral aneurysms. American Journal of Human Genetics, 104 (5). pp. 968-976. ISSN 1537-6605

Ramos, Eliana Marisa, Carecchio, Miryam, Lemos, Roberta, Ferreira, Joana, Legati, Andrea, Sears, Renee Louise, Hsu, Sandy Chan, Panteghini, Celeste, Magistrelli, Luca, Salsano, Ettore, Esposito, Silvia, Taroni, Franco, Richard, Anne-Claire, Tranchant, Christine, Anheim, Mathieu, Ayrignac, Xavier, Goizet, Cyril, Vidailhet, Marie, Maltete, David, Wallon, David, Frebourg, Thierry, Pimentel, Lylyan, Geschwind, Daniel H, Vanakker, Olivier, Galasko, Douglas, Fogel, Brent L, Innes, A Micheil, Ross, Alison, Dobyns, William B, Alcantara, Diana, O'Driscoll, Mark, Hannequin, Didier, Campion, Dominique, The French PBC Study group, , Oliveira, João R, Garavaglia, Barbara, Coppola, Giovanni and Nicolas, Gaël (2018) Primary brain calcification: an international study reporting novel variants and associated phenotypes. European Journal of Human Genetics, 26 (10). pp. 1462-1477. ISSN 1018-4813

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

Bagheri, Hani, Badduke, Chansonette, Qiao, Ying, Colnaghi, Rita, Abramowicz, Iga, Alcantara, Diana, Dunham, Christopher, Wen, Jiadi, Wlldln, Robert S, Nowaczyk, Malgorzata J M, Elchmeyer, Jennifer, Lehman, Anna, Maranda, Bruno, Martell, Sally, Shan, Xianghong, Lewis, Suzanne M E, O'Driscoll, Mark, Gregory-Evans, Cheryl Y and Rajcan-Separovic, Evica (2016) Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis. Journal of Clinical Investigation Insight, 1 (3). e85461 1-20. ISSN 2379-3708

Bennett, James T, Tan, Tiong Yang, Alcantara, Diana, Tétrault, Martine, Timms, Andrew E, Jensen, Dana, Collins, Sarah, Nowaczyk, Malgorzata J M, Lindhurst, Marjorie J, Christensen, Katherine M, Braddock, Stephen R, Brandling-Bennett, Heather, Hennekam, Raoul C M, Chung, Brian, Lehman, Anna, Su, John, Ng, SuYuen, Amor, David J, Majewski, Jacek, Biesecker, Les G, Boycott, Kym M, Dobyns, William B, O'Driscoll, Mark, Moog, Ute and McDonell, Laura M (2016) Mosaic activating mutations in FGFR1 cause encephalocraniocutaneous lipomatosis. The American Journal of Human Genetics, 98 (3). pp. 579-587. ISSN 0002-9297

Donato, Nataliya Di, Rump, Andreas, Mirzaa, Ghayda M, Alcantara, Diana, Oliver, Antony, Schrock, Evelin, Dobyns, William B and O'Driscoll, Mark (2015) Identification and characterisation of a novel constitutional PIK3CA mutation in a child lacking the typical segmental overgrowth of "PIK3CA-Related Overgrowth Spectrum" (PROS). Human Mutation, 37 (3). pp. 242-245. ISSN 1059-7794

Alcantara, Diana and O'Driscoll, Mark (2014) Congenital microcephaly. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 166 (2). pp. 124-139. ISSN 1552-4868

Dyment, David A, Smith, Amanda C, Alcantara, Diana, Schwartzentruber, Jeremy A, Basel-Vanagaite, Lina, Curry, Cynthia J, Temple, I Karen, Reardon, William, Mansour, Sahar, Haq, Mushfequr R, Gilbert, Rodney, Lehmann, Ordan J, Vanstone, Megan R, Beaulieu, Chandree L, FORGE Canada Consortium, , Majewski, Jacek, Bulman, Dennis E, O'Driscoll, Mark, Boycott, Kym M and Inness, A Micheil (2013) Mutations in PIK3R1 cause SHORT syndrome. American Journal of Human Genetics, 93 (1). pp. 158-166. ISSN 0002-9297

McDonell, Laura M, Mirzaa, Ghayda M, Alcantara, Diana, Schwartzentruber, Jeremy, Carter, Melissa T, Lee, Leo J, Clericuzio, Carol L, Graham, John M, Morris-Rosendahl, Deborah J, Polster, Tilman, Acsadi, Gyula, Townshend, Sharron, Williams, Simon, Halbert, Anne, Isidor, Bertrand, David, Albert, Smyser, Christopher D, Paciorkowski, Alex R, Willing, Marcia, Woulfe, John, Das, Soma, Beaulieu, Chandree L, Marcadier, Janet, FORGE Canada Consortium, , Geraghty, Michael T, Frey, Brendan J, Majewski, Jacek, Bulman, Dennis E, Dobyns, William B, O'Driscoll, Mark and Boycott, Kym M (2013) Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. Nature genetics, 45 (5). pp. 556-562. ISSN 1546-1718

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

Rivière, Jean-Baptiste, Mirzaa, Ghayda M, O'Roak, Brian J, Beddaoui, Margaret, Alcantara, Diana, Conway, Robert L, St-Onge, Judith, Schwartzentruber, Jeremy A, Gripp, Karen W, Nikkel, Sarah M, Worthylake, Thea, Sullivan, Christopher T, Ward, Thomas R, Butler, Hailly E, Kramer, Nancy A, Albrecht, Beate, Armour, Christine M, Armstrong, Linlea, Caluseriu, Oana, Cytrynbaum, Cheryl, Drolet, Beth A, Innes, A Micheil, Lauzon, Julie L, Lin, Angela E, Mancini, Grazia M S, Meschino, Wendy S, Reggin, James D, Saggar, Anand K, Lerman-Sagie, Tally, Uyanik, Gökhan, Weksberg, Rosanna, Zirn, Birgit, Beaulieu, Chandree L, (FORGE):, Finding of Rare Disease Genes Canada Consortium, Majewski, Jacek, Bulman, Dennis E, O'Driscoll, Mark, Shendure, Jay, Graham Jr, John M, Boycott, Kym M and Dobyns, William B (2012) De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nature Genetics, 44 (8). pp. 934-940. ISSN 1546-1718

Harvard, Chansonette, Strong, Emma, Mercier, Eloi, Colnaghi, Rita, Alcantara, Diana, Chow, Eva, Martell, Sally, Tyson, Christine, Hrynchak, Monica, McGillivray, Barbara, Hamilton, Sara, Marles, Sandra, Mhanni, Aziz, Dawson, Angelika J, Pavlidis, Paul, Qiao, Ying, Holden, Jeanette J, Lewis, Suzanne M E, O'Driscoll, Mark and Rajcan-Separovic, Evica (2011) Understanding the impact of 1q21.1 Copy Number Variant. Orphanet Journal of Rare Diseases, 6 (1 (54)).

Havard, Chansonette, Strong, Emma, Mercier, Eloi, Colnaghi, Rita, Alcantara, Diana Rita Ralha, Chow, Eva, Martell, Sally, Tyson, Christine, Hrynchak, Monica, McGillivray, Barbara, Hamilton, Sara, Marles, Sandra, Mhanni, Aziz, Dawson, Angelika J, Pavlidis, Paul and Qiao, Ying (2011) Understanding the impact of 1q21.1 copy number variant. Orphanet Journal of Rare Diseases, 6 (54). pp. 1-12. ISSN 1750-1172

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.

Thesis

Alcantara, Diana (2013) Understanding at the molecular level the consequences of defective ATR signalling in humans. Doctoral thesis (PhD), University of Sussex.