Uptake and Diagnostic Yield of Chromosomal Microarray in an Australian Child Development Clinic

por Mordaunt, Dylan, Gabbett, Michael, Waugh, Melanie, O’Brien, Karen, Heussler, Helen
Publicado 2014

Human Genetics Society of Australasia Position Statement: Genetic Testing and Personal Insurance Products in Australia

por Newson, Ainsley J., Ayres, Sam, Boyle, Jackie, Gabbett, Michael T., Nisselle, Amy
Publicado 2018

Carpenter Syndrome: Extended RAB23 Mutation Spectrum and Analysis of Nonsense-mediated mRNA Decay

por Jenkins, Dagan, Baynam, Gareth, De Catte, Luc, Elcioglu, Nursel, Gabbett, Michael T, Hudgins, Louanne, Hurst, Jane A, Jehee, Fernanda Sarquis, Oley, Christine, Wilkie, Andrew O M
Publicado 2011

A protocol for the identification and validation of novel genetic causes of kidney disease

por Mallett, Andrew, Patel, Chirag, Maier, Barbara, McGaughran, Julie, Gabbett, Michael, Takasato, Minoru, Cameron, Anne, Trnka, Peter, I. Alexander, Stephen, Rangan, Gopala, Tchan, Michel C., Caruana, Georgina, John, George, Quinlan, Cathy, McCarthy, Hugh J., Hyland, Valentine, E. Hoy, Wendy, Wolvetang, Ernst, Taft, Ryan, Simons, Cas, Healy, Helen, Little, Melissa
Publicado 2015

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy

por Zaharieva, Irina T., Thor, Michael G., Oates, Emily C., van Karnebeek, Clara, Hendson, Glenda, Blom, Eveline, Witting, Nanna, Rasmussen, Magnhild, Gabbett, Michael T., Ravenscroft, Gianina, Sframeli, Maria, Suetterlin, Karen, Sarkozy, Anna, D’Argenzio, Luigi, Hartley, Louise, Matthews, Emma, Pitt, Matthew, Vissing, John, Ballegaard, Martin, Krarup, Christian, Slørdahl, Andreas, Halvorsen, Hanne, Ye, Xin Cynthia, Zhang, Lin-Hua, Løkken, Nicoline, Werlauff, Ulla, Abdelsayed, Mena, Davis, Mark R., Feng, Lucy, Phadke, Rahul, Sewry, Caroline A., Morgan, Jennifer E., Laing, Nigel G., Vallance, Hilary, Ruben, Peter, Hanna, Michael G., Lewis, Suzanne, Kamsteeg, Erik-Jan, Männikkö, Roope, Muntoni, Francesco
Publicado 2016

Further delineation of the KAT6B molecular and phenotypic spectrum

por Gannon, Tamsin, Perveen, Rahat, Schlecht, Hélene, Ramsden, Simon, Anderson, Beverley, Kerr, Bronwyn, Day, Ruth, Banka, Siddharth, Suri, Mohnish, Berland, Siren, Gabbett, Michael, Ma, Alan, Lyonnet, Stan, Cormier-Daire, Valerie, Yilmaz, Rüstem, Borck, Guntram, Wieczorek, Dagmar, Anderlid, Britt-Marie, Smithson, Sarah, Vogt, Julie, Moore-Barton, Heather, Simsek-Kiper, Pelin Ozlem, Maystadt, Isabelle, Destrée, Anne, Bucher, Jessica, Angle, Brad, Mohammed, Shehla, Wakeling, Emma, Price, Sue, Singer, Amihood, Sznajer, Yves, Toutain, Annick, Haye, Damien, Newbury-Ecob, Ruth, Fradin, Melanie, McGaughran, Julie, Tuysuz, Beyhan, Tein, Mark, Bouman, Katelijne, Dabir, Tabib, Van den Ende, Jenneke, Luk, Ho Ming, Pilz, Daniela T, Eason, Jacqueline, Davies, Sally, Reardon, Willie, Garavelli, Livia, Zuffardi, Orsetta, Devriendt, Koen, Armstrong, Ruth, Johnson, Diana, Doco-Fenzy, Martine, Bijlsma, Emilia, Unger, Sheila, Veenstra-Knol, Hermine E, Kohlhase, Jürgen, Lo, Ivan FM, Smith, Janine, Clayton-Smith, Jill
Publicado 2015

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

por Mirzaa, Ghayda, Timms, Andrew E., Conti, Valerio, Boyle, Evan August, Girisha, Katta M., Martin, Beth, Kircher, Martin, Olds, Carissa, Juusola, Jane, Collins, Sarah, Park, Kaylee, Carter, Melissa, Glass, Ian, Krägeloh-Mann, Inge, Chitayat, David, Parikh, Aditi Shah, Bradshaw, Rachael, Torti, Erin, Braddock, Stephen, Burke, Leah, Ghedia, Sondhya, Stephan, Mark, Stewart, Fiona, Prasad, Chitra, Napier, Melanie, Saitta, Sulagna, Straussberg, Rachel, Gabbett, Michael, O’Connor, Bridget C., Keegan, Catherine E., Yin, Lim Jiin, Lai, Angeline Hwei Meeng, Martin, Nicole, McKinnon, Margaret, Addor, Marie-Claude, Boccuto, Luigi, Schwartz, Charles E., Lanoel, Agustina, Conway, Robert L., Devriendt, Koenraad, Tatton-Brown, Katrina, Pierpont, Mary Ella, Painter, Michael, Worgan, Lisa, Reggin, James, Hennekam, Raoul, Tsuchiya, Karen, Pritchard, Colin C., Aracena, Mariana, Gripp, Karen W., Cordisco, Maria, Van Esch, Hilde, Garavelli, Livia, Curry, Cynthia, Goriely, Anne, Kayserilli, Hulya, Shendure, Jay, Graham, John, Guerrini, Renzo, Dobyns, William B.
Publicado 2016