Risk Assessment and Management in Cancer Genetics

Por MAGEE, ALEX
Publicado em 2006

Medical Genetics

Por Magee, Alex
Publicado em 2006

Patricia Mary Qura'n (née Gilligan)

Por Magee, Alex, Bunting, Bronagh, Gibson, Fiona
Publicado em 2007

Streamlining the use of IHC in identifying germline mismatch repair mutations in Lynch syndrome

Por Rea, Gillian, Magee, Alex, Loughrey, Maurice B.
Publicado em 2012

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability

Por Hunt, David, Leventer, Richard J, Simons, Cas, Taft, Ryan, Swoboda, Kathryn J, Gawne-Cain, Mary, Magee, Alex C, Turnpenny, Peter D, Baralle, Diana
Publicado no J Med Genet (2014)

CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis

Por Hengel, Holger, Magee, Alex, Mahanjah, Muhammad, Vallat, Jean-Michel, Ouvrier, Robert, Abu-Rashid, Mohammad, Mahamid, Jamal, Schüle, Rebecca, Schulze, Martin, Krägeloh-Mann, Ingeborg, Bauer, Peter, Züchner, Stephan, Sharkia, Rajech, Schöls, Ludger
Publicado no Neurol Genet (2017)

De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability

Por Parker, Michael J., Fryer, Alan E., Shears, Deborah J., Lachlan, Katherine L., McKee, Shane A., Magee, Alex C., Mohammed, Shehla, Vasudevan, Pradeep C., Park, Soo‐Mi, Benoit, Valérie, Lederer, Damien, Maystadt, Isabelle, study, DDD, FitzPatrick, David R.
Publicado no Am J Med Genet A (2015)

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis

Por Mattioli, Francesca, Schaefer, Elise, Magee, Alex, Mark, Paul, Mancini, Grazia M., Dieterich, Klaus, Von Allmen, Gretchen, Alders, Marielle, Coutton, Charles, van Slegtenhorst, Marjon, Vieville, Gaëlle, Engelen, Mark, Cobben, Jan Maarten, Juusola, Jane, Pujol, Aurora, Mandel, Jean-Louis, Piton, Amélie
Publicado no Am J Hum Genet (2017)

Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome

Por Kleefstra, Tjitske, Brunner, Han G., Amiel, Jeanne, Oudakker, Astrid R., Nillesen, Willy M., Magee, Alex, Geneviève, David, Cormier-Daire, Valérie, van Esch, Hilde, Fryns, Jean-Pierre, Hamel, Ben C. J., Sistermans, Erik A., de Vries, Bert B. A., van Bokhoven, Hans
Publicado em 2006

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome

Por Sleven, Hannah, Welsh, Seth J., Yu, Jing, Churchill, Mair E.A., Wright, Caroline F., Henderson, Alex, Horvath, Rita, Rankin, Julia, Vogt, Julie, Magee, Alex, McConnell, Vivienne, Green, Andrew, King, Mary D., Cox, Helen, Armstrong, Linlea, Lehman, Anna, Nelson, Tanya N., Williams, Jonathan, Clouston, Penny, Hagman, James, Németh, Andrea H.
Publicado no Am J Hum Genet (2017)

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

Por Tatton-Brown, Katrina, Hanks, Sandra, Ruark, Elise, Zachariou, Anna, Duarte, Silvana Del Vecchio, Ramsay, Emma, Snape, Katie, Murray, Anne, Perdeaux, Elizabeth R, Seal, Sheila, Loveday, Chey, Banka, Siddharth, Clericuzio, Carol, Flinter, Frances, Magee, Alex, McConnell, Vivienne, Patton, Michael, Raith, Wolfgang, Rankin, Julia, Splitt, Miranda, Strenger, Volker, Taylor, Clare, Wheeler, Patricia, Temple, I Karen, Cole, Trevor, Douglas, Jenny, Rahman, Nazneen
Publicado em 2011

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

Por Banka, Siddharth, Veeramachaneni, Ratna, Reardon, William, Howard, Emma, Bunstone, Sancha, Ragge, Nicola, Parker, Michael J, Crow, Yanick J, Kerr, Bronwyn, Kingston, Helen, Metcalfe, Kay, Chandler, Kate, Magee, Alex, Stewart, Fiona, McConnell, Vivienne P M, Donnelly, Deirdre E, Berland, Siren, Houge, Gunnar, Morton, Jenny E, Oley, Christine, Revencu, Nicole, Park, Soo-Mi, Davies, Sally J, Fry, Andrew E, Lynch, Sally Ann, Gill, Harinder, Schweiger, Susann, Lam, Wayne W K, Tolmie, John, Mohammed, Shehla N, Hobson, Emma, Smith, Audrey, Blyth, Moira, Bennett, Christopher, Vasudevan, Pradeep C, García-Miñaúr, Sixto, Henderson, Alex, Goodship, Judith, Wright, Michael J, Fisher, Richard, Gibbons, Richard, Price, Susan M, C de Silva, Deepthi, Temple, I Karen, Collins, Amanda L, Lachlan, Katherine, Elmslie, Frances, McEntagart, Meriel, Castle, Bruce, Clayton-Smith, Jill, Black, Graeme C, Donnai, Dian
Publicado em 2012

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Por Ansari, Morad, Poke, Gemma, Ferry, Quentin, Williamson, Kathleen, Aldridge, Roland, Meynert, Alison M, Bengani, Hemant, Chan, Cheng Yee, Kayserili, Hülya, Avci, Şahin, Hennekam, Raoul C M, Lampe, Anne K, Redeker, Egbert, Homfray, Tessa, Ross, Alison, Falkenberg Smeland, Marie, Mansour, Sahar, Parker, Michael J, Cook, Jacqueline A, Splitt, Miranda, Fisher, Richard B, Fryer, Alan, Magee, Alex C, Wilkie, Andrew, Barnicoat, Angela, Brady, Angela F, Cooper, Nicola S, Mercer, Catherine, Deshpande, Charu, Bennett, Christopher P, Pilz, Daniela T, Ruddy, Deborah, Cilliers, Deirdre, Johnson, Diana S, Josifova, Dragana, Rosser, Elisabeth, Thompson, Elizabeth M, Wakeling, Emma, Kinning, Esther, Stewart, Fiona, Flinter, Frances, Girisha, Katta M, Cox, Helen, Firth, Helen V, Kingston, Helen, Wee, Jamie S, Hurst, Jane A, Clayton-Smith, Jill, Tolmie, John, Vogt, Julie, Tatton–Brown, Katrina, Chandler, Kate, Prescott, Katrina, Wilson, Louise, Behnam, Mahdiyeh, McEntagart, Meriel, Davidson, Rosemarie, Lynch, Sally-Ann, Sisodiya, Sanjay, Mehta, Sarju G, McKee, Shane A, Mohammed, Shehla, Holden, Simon, Park, Soo-Mi, Holder, Susan E, Harrison, Victoria, McConnell, Vivienne, Lam, Wayne K, Green, Andrew J, Donnai, Dian, Bitner-Glindzicz, Maria, Donnelly, Deirdre E, Nellåker, Christoffer, Taylor, Martin S, FitzPatrick, David R
Publicado em 2014