A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley–Kendall dysplasia are allelic disorders

por Gregersen, Pernille A., McKay, Victoria, Walsh, Maie, Brown, Erica, McGillivray, George, Savarirayan, Ravi
Publicado 2020

Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy

por Walsh, Maie, Bell, Katrina M., Chong, Belinda, Creed, Emma, Brett, Gemma R., Pope, Kate, Thorne, Natalie P., Sadedin, Simon, Georgeson, Peter, Phelan, Dean G., Day, Timothy, Taylor, Jessica A., Sexton, Adrienne, Lockhart, Paul J., Kiers, Lynette, Fahey, Michael, Macciocca, Ivan, Gaff, Clara L., Oshlack, Alicia, Yiu, Eppie M., James, Paul A., Stark, Zornitza, Ryan, Monique M.
Publicado 2017

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content

por Woldegebriel, Rosa, Kvist, Jouni, Andersson, Noora, Õunap, Katrin, Reinson, Karit, Wojcik, Monica H, Bijlsma, Emilia K, Hoffer, Mariëtte J V, Ryan, Monique M, Stark, Zornitza, Walsh, Maie, Cuppen, Inge, van den Boogaard, Marie-Jose´ H, Bharucha-Goebel, Diana, Donkervoort, Sandra, Winchester, Sara, Zori, Roberto, Bönnemann, Carsten G, Maroofian, Reza, O’Connor, Emer, Houlden, Henry, Zhao, Fang, Carpén, Olli, White, Matthew, Sreedharan, Jemeen, Stewart, Murray, Ylikallio, Emil, Tyynismaa, Henna
Publicado 2020

The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study

por Davidson, Aimee L., Dressel, Uwe, Norris, Sarah, Canson, Daffodil M., Glubb, Dylan M., Fortuno, Cristina, Hollway, Georgina E., Parsons, Michael T., Vidgen, Miranda E., Holmes, Oliver, Koufariotis, Lambros T., Lakis, Vanessa, Leonard, Conrad, Wood, Scott, Xu, Qinying, McCart Reed, Amy E., Pickett, Hilda A., Al-Shinnag, Mohammad K., Austin, Rachel L., Burke, Jo, Cops, Elisa J., Nichols, Cassandra B., Goodwin, Annabel, Harris, Marion T., Higgins, Megan J., Ip, Emilia L., Kiraly-Borri, Catherine, Lau, Chiyan, Mansour, Julia L., Millward, Michael W., Monnik, Melissa J., Pachter, Nicholas S., Ragunathan, Abiramy, Susman, Rachel D., Townshend, Sharron L., Trainer, Alison H., Troth, Simon L., Tucker, Katherine M., Wallis, Mathew J., Walsh, Maie, Williams, Rachel A., Winship, Ingrid M., Newell, Felicity, Tudini, Emma, Pearson, John V., Poplawski, Nicola K., Mar Fan, Helen G., James, Paul A., Spurdle, Amanda B., Waddell, Nicola, Ward, Robyn L.
Publicado 2023