Monosomy 21 Seen in Live Born Is Unlikely to Represent True Monosomy 21: A Case Report and Review of the Literature

Por Burgess, Trent, Downie, Lilian, Pertile, Mark D., Francis, David, Glass, Melissa, Nouri, Sara, Pszczola, Rosalynn
Publicado em 2014

A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort

Por Downie, Lilian, Halliday, Jane L, Burt, Rachel A, Lunke, Sebastian, Lynch, Elly, Martyn, Melissa, Poulakis, Zeffie, Gaff, Clara, Sung, Valerie, Wake, Melissa, Hunter, Matthew, Saunders, Kerryn, Rose, Elizabeth, Rehm, Heidi L, Amor, David J
Publicado no BMJ Paediatr Open (2017)

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

Por Tan, Tiong Yang, Dillon, Oliver James, Stark, Zornitza, Schofield, Deborah, Alam, Khurshid, Shrestha, Rupendra, Chong, Belinda, Phelan, Dean, Brett, Gemma R., Creed, Emma, Jarmolowicz, Anna, Yap, Patrick, Walsh, Maie, Downie, Lilian, Amor, David J., Savarirayan, Ravi, McGillivray, George, Yeung, Alison, Peters, Heidi, Robertson, Susan J., Robinson, Aaron J., Macciocca, Ivan, Sadedin, Simon, Bell, Katrina, Oshlack, Alicia, Georgeson, Peter, Thorne, Natalie, Gaff, Clara, White, Susan M.
Publicado no JAMA Pediatr (2017)