Aberrant CBFA2T3B gene promoter methylation in breast tumors

por Bais, Anthony J, Gardner, Alison E, McKenzie, Olivia LD, Callen, David F, Sutherland, Grant R, Kremmidiotis, Gabriel
Publicado 2004

Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy

por Corbett, Mark A., van Eyk, Clare L., Webber, Dani L., Bent, Stephen J., Newman, Morgan, Harper, Kelly, Berry, Jesia G., Azmanov, Dimitar N., Woodward, Karen J., Gardner, Alison E., Slee, Jennie, Pérez-Jurado, Luís A., MacLennan, Alastair H., Gecz, Jozef
Publicado 2018

Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy

por Corbett, Mark A., van Eyk, Clare L., Webber, Dani L., Bent, Stephen J., Newman, Morgan, Harper, Kelly, Berry, Jesia G., Azmanov, Dimitar N., Woodward, Karen J., Gardner, Alison E., Slee, Jennie, Pérez-Jurado, Luís A., MacLennan, Alastair H., Gecz, Jozef
Publicado 2019

Aicardi Syndrome Is a Genetically Heterogeneous Disorder

por Ha, Thuong T., Burgess, Rosemary, Newman, Morgan, Moey, Ching, Mandelstam, Simone A., Gardner, Alison E., Ivancevic, Atma M., Pham, Duyen, Kumar, Raman, Smith, Nicholas, Patel, Chirag, Malone, Stephen, Ryan, Monique M., Calvert, Sophie, van Eyk, Clare L., Lardelli, Michael, Berkovic, Samuel F., Leventer, Richard J., Richards, Linda J., Scheffer, Ingrid E., Gecz, Jozef, Corbett, Mark A.
Publicado 2023

Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor

por Kumar, Raman, Palmer, Elizabeth, Gardner, Alison E., Carroll, Renee, Banka, Siddharth, Abdelhadi, Ola, Donnai, Dian, Elgersma, Ype, Curry, Cynthia J., Gardham, Alice, Suri, Mohnish, Malla, Rishikesh, Brady, Lauren Ilana, Tarnopolsky, Mark, Azmanov, Dimitar N., Atkinson, Vanessa, Black, Michael, Baynam, Gareth, Dreyer, Lauren, Hayeems, Robin Z., Marshall, Christian R., Costain, Gregory, Wessels, Marja W., Baptista, Julia, Drummond, James, Leffler, Melanie, Field, Michael, Gecz, Jozef
Publicado 2020

Missense variant contribution to USP9X-female syndrome

por Jolly, Lachlan A., Parnell, Euan, Gardner, Alison E., Corbett, Mark A., Pérez-Jurado, Luis A., Shaw, Marie, Lesca, Gaetan, Keegan, Catherine, Schneider, Michael C., Griffin, Emily, Maier, Felicitas, Kiss, Courtney, Guerin, Andrea, Crosby, Kathleen, Rosenbaum, Kenneth, Tanpaiboon, Pranoot, Whalen, Sandra, Keren, Boris, McCarrier, Julie, Basel, Donald, Sadedin, Simon, White, Susan M., Delatycki, Martin B., Kleefstra, Tjitske, Küry, Sébastien, Brusco, Alfredo, Sukarova-Angelovska, Elena, Trajkova, Slavica, Yoon, Sehoun, Wood, Stephen A., Piper, Michael, Penzes, Peter, Gecz, Jozef
Publicado 2020