Principles of Genomic Newborn Screening Programs: A Systematic Review

por Downie, Lilian, Halliday, Jane, Lewis, Sharon, Amor, David J.
Publicado 2021

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 2014

Predictors of Early Language Outcomes in Children with Connexin 26 Hearing Loss across Three Countries

por Holzinger, Daniel, Dall, Magdalena, Kiblböck, Sandra, Dirks, Evelien, Carew, Peter, Smith, Libby, Downie, Lilian, Shepherd, Daisy A., Sung, Valerie
Publicado 2022

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 2017

Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol

por Bouffler, Sophie E, Lee, Ling, Lynch, Fiona, Martyn, Melissa, Lynch, Elly, Macciocca, Ivan, Curnow, Lisette, McCorkell, Giulia, Lunke, Sebastian, Chong, Belinda, Marum, Justine E, Delatycki, Martin, Downie, Lilian, Goranitis, Ilias, Vears, Danya F, Best, Stephanie, Clausen, Marc, Bombard, Yvonne, Stark, Zornitza, Gaff, Clara L
Publicado 2023

Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability

por Francis, David I., Stark, Zornitza, Scheffer, Ingrid E., Tan, Tiong Yang, Murali, Krithika, Gallacher, Lyndon, Amor, David J., Goel, Himanshu, Downie, Lilian, Stutterd, Chloe A., Krzesinski, Emma I., Vasudevan, Anand, Oertel, Ralph, Petrovic, Vida, Boys, Amber, Wei, Vivian, Burgess, Trent, Dun, Karen, Oliver, Karen L., Baxter, Anne, Hackett, Anna, Ayres, Samantha, Lunke, Sebastian, Kalitsis, Paul, Wall, Meaghan
Publicado 2022

Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development

por Kaspi, Antony, Hildebrand, Michael S., Jackson, Victoria E., Braden, Ruth, van Reyk, Olivia, Howell, Tegan, Debono, Simone, Lauretta, Mariana, Morison, Lottie, Coleman, Matthew J., Webster, Richard, Coman, David, Goel, Himanshu, Wallis, Mathew, Dabscheck, Gabriel, Downie, Lilian, Baker, Emma K., Parry-Fielder, Bronwyn, Ballard, Kirrie, Harrold, Eva, Ziegenfusz, Shaun, Bennett, Mark F., Robertson, Erandee, Wang, Longfei, Boys, Amber, Fisher, Simon E., Amor, David J., Scheffer, Ingrid E., Bahlo, Melanie, Morgan, Angela T.
Publicado 2023

Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development

por Kaspi, Antony, Hildebrand, Michael S., Jackson, Victoria E., Braden, Ruth, van Reyk, Olivia, Howell, Tegan, Debono, Simone, Lauretta, Mariana, Morison, Lottie, Coleman, Matthew J., Webster, Richard, Coman, David, Goel, Himanshu, Wallis, Mathew, Dabscheck, Gabriel, Downie, Lilian, Baker, Emma K., Parry-Fielder, Bronwyn, Ballard, Kirrie, Harrold, Eva, Ziegenfusz, Shaun, Bennett, Mark F., Robertson, Erandee, Wang, Longfei, Boys, Amber, Fisher, Simon E., Amor, David J., Scheffer, Ingrid E., Bahlo, Melanie, Morgan, Angela T.
Publicado 2022