A framework for reporting secondary and incidental findings in prenatal sequencing: When and for whom?

por Vears, Danya, Amor, David J.
Publicado 2022

Principles of Genomic Newborn Screening Programs: A Systematic Review

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

Non-invasive prenatal testing for ‘non-medical’ traits: ensuring consistency in ethical decision-making

por Bowman-Smart, Hilary, Gyngell, Christopher, Mand, Cara, Amor, David J., Delatycki, Martin B., Savulescu, Julian
Publicado 2023

Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome

por Hudson, Damien F., Amor, David J., Boys, Amber, Butler, Kathy, Williams, Lorna, Zhang, Tao, Kalitsis, Paul
Publicado 2016

Attitudes of sperm, egg and embryo donors and recipients towards genetic information and screening of donors

por Amor, David J., Kerr, Annabelle, Somanathan, Nandini, McEwen, Alison, Tome, Marianne, Hodgson, Jan, Lewis, Sharon
Publicado 2018

Study protocol: childhood outcomes of fetal genomic variants: the PrenatAL Microarray (PALM) cohort study

por Hui, Lisa, Pynaker, Cecilia, Kennedy, Joanne, Lewis, Sharon, Amor, David J., Walker, Susan P., Halliday, Jane
Publicado 2021

Health and development of ART conceived young adults: a study protocol for the follow-up of a cohort

por Wilson, Cate, Hammarberg, Karin, Bruinsma, Fiona, Berg, Turi, Amor, David, Sanson, Ann, Fisher, Jane R, Halliday, Jane
Publicado 2013

Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis—A case report and review of literature

por Yaplito‐Lee, Joy, Pai, Gautham, Hardikar, Winita, Hong, Kai M., Pitt, James, Marum, Justine, Amor, David J.
Publicado 2020

Defining the 3′Epigenetic Boundary of the FMR1 Promoter and Its Loss in Individuals with Fragile X Syndrome

por Godler, David E., Inaba, Yoshimi, Bui, Minh Q., Francis, David, Skinner, Cindy, Schwartz, Charles E., Amor, David J.
Publicado 2023

Polygenic risk score for embryo selection—not ready for prime time

por Polyakov, Alex, Amor, David J, Savulescu, Julian, Gyngell, Christopher, Georgiou, Ektoras X, Ross, Vanessa, Mizrachi, Yossi, Rozen, Genia
Publicado 2022

Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes

por Baker, Emma K., Godler, David E., Bui, Minh, Hickerton, Chriselle, Rogers, Carolyn, Field, Mike, Amor, David J., Bretherton, Lesley
Publicado 2018

Growth Trajectories in Genetic Subtypes of Prader–Willi Syndrome

por Shepherd, Daisy A., Vos, Niels, Reid, Susan M., Godler, David E., Guzys, Angela, Moreno-Betancur, Margarita, Amor, David J.
Publicado 2020

Family-centred care for children with traumatic brain injury and/or spinal cord injury: a qualitative study of service provider perspectives during the COVID-19 pandemic

por Pollock, Anna, D’Cruz, Kate, Scheinberg, Adam, Botchway, Edith, Harms, Louise, Amor, David J, Anderson, Vicki, Bonyhady, Bruce, Knight, Sarah
Publicado 2022

Alternative Genetic Diagnoses in Axenfeld–Rieger Syndrome Spectrum

por Reis, Linda M., Amor, David J., Haddad, Raad A., Nowak, Catherine B., Keppler-Noreuil, Kim M., Chisholm, Smith Ann, Semina, Elena V.
Publicado 2023

Epigenome-wide analysis in newborn blood spots from monozygotic twins discordant for cerebral palsy reveals consistent regional differences in DNA methylation

por Mohandas, Namitha, Bass-Stringer, Sebastian, Maksimovic, Jovana, Crompton, Kylie, Loke, Yuk J., Walstab, Janet, Reid, Susan M., Amor, David J., Reddihough, Dinah, Craig, Jeffrey M.
Publicado 2018

Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency

por Amor, David J., Marsh, Ashley P.L., Storey, Elsdon, Tankard, Rick, Gillies, Greta, Delatycki, Martin B., Pope, Kate, Bromhead, Catherine, Leventer, Richard J., Bahlo, Melanie, Lockhart, Paul J.
Publicado 2016

Neuropathology of childhood‐onset basal ganglia degeneration caused by mutation of VAC14

por Stutterd, Chloe, Diakumis, Peter, Bahlo, Melanie, Fanjul Fernandez, Miriam, Leventer, Richard J., Delatycki, Martin, Amor, David, Chow, Chung W., Stephenson, Sarah, Meisler, Miriam H., Mclean, Catriona, Lockhart, Paul J.
Publicado 2017

Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes

por Smith, Katherine R, Bromhead, Catherine J, Hildebrand, Michael S, Shearer, A Eliot, Lockhart, Paul J, Najmabadi, Hossein, Leventer, Richard J, McGillivray, George, Amor, David J, Smith, Richard J, Bahlo, Melanie
Publicado 2011

Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disorders

por Baker, Emma K., Butler, Merlin G., Hartin, Samantha N., Ling, Ling, Bui, Minh, Francis, David, Rogers, Carolyn, Field, Michael J., Slee, Jennie, Gamage, Dinusha, Amor, David J., Godler, David E.
Publicado 2020

Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis

por Zhang, Lei, Bao, Yining, Riaz, Moeen, Tiller, Jane, Liew, Danny, Zhuang, Xun, Amor, David J., Huq, Aamira, Petelin, Lara, Nelson, Mark, James, Paul A., Winship, Ingrid, McNeil, John J., Lacaze, Paul
Publicado 2019