Miss Diana Alcantara
| Post: | Research Fellow (Genome Damage and Stability) |
| Other posts: | Postgraduate Student (Genome Damage and Stability) |
| Location: | Genome Centre |
| Email: | D.R.R.Alcantara@sussex.ac.uk |
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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). ISSN 1750-1172
