| “I'm Healthy, It's Not Going To Be Me”: Exploring experiences of carriers identified through a population reproductive genetic carrier screening panel in Australia CA Beard, DJ Amor, L Di Pietro, AD Archibald American Journal of Medical Genetics Part A 170 (8), 2052-2059, 2016 | 32 | 2016 |
| 14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements L Allou, L Lambert, D Amsallem, E Bieth, P Edery, A Destrée, F Rivier, ... European journal of human genetics 20 (12), 1216-1223, 2012 | 57 | 2012 |
| 4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment A Yeung, D Bruno, IE Scheffer, D Carranza, T Burgess, HR Slater, ... European journal of medical genetics 52 (6), 440-442, 2009 | 66 | 2009 |
| 46, XX/46, XY at amniocentesis in a fetus with true hermaphroditism D Amor, MB Delatycki, M Susman, E Casey, T NASH, G WARNE, ... Journal of medical genetics 36 (11), 866-869, 1999 | 13 | 1999 |
| A case for cystic fibrosis carrier testing in the general population BJ McClaren, SA Metcalfe, DJ Amor, MA Aitken, J Massie The Medical journal of Australia 194 (4), 208-209, 2011 | 20 | 2011 |
| A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry A Cortese, SJ Beecroft, S Facchini, R Curro, M Cabrera-Serrano, ... MedRxiv, 2023.10. 09.23296582, 2023 | 5 | 2023 |
| A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations E Lee, T Le, Y Zhu, G Elakis, A Turner, W Lo, H Venselaar, ... Genetics in Medicine 20 (9), 1061-1068, 2018 | 41 | 2018 |
| A framework for reporting secondary and incidental findings in prenatal sequencing: When and for whom? D Vears, DJ Amor Prenatal diagnosis 42 (6), 697-704, 2022 | 15 | 2022 |
| A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13. 33 RN Traylor, DL Bruno, T Burgess, R Wildin, A Spencer, D Ganesamoorthy, ... PLoS One 5 (8), e12462, 2010 | 29 | 2010 |
| A novel approach to offering additional genomic findings—a protocol to test a two‐step approach in the healthcare system M Martyn, A Kanga‐Parabia, E Lynch, PA James, I Macciocca, AH Trainer, ... Journal of genetic counseling 28 (2), 388-397, 2019 | 15 | 2019 |
| A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders Z Stark, TY Tan, B Chong, GR Brett, P Yap, M Walsh, A Yeung, H Peters, ... Genetics in medicine 18 (11), 1090-1096, 2016 | 399 | 2016 |
| A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort L Downie, JL Halliday, RA Burt, S Lunke, E Lynch, M Martyn, Z Poulakis, ... BMJ paediatrics open 1 (1), 2017 | 22 | 2017 |
| A qualitative exploration of mothers’ and fathers’ experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis E Bourke, P Snow, A Herlihy, D Amor, S Metcalfe European Journal of Human Genetics 22 (1), 18-24, 2014 | 49 | 2014 |
| A review of known imprinting syndromes and their association with assisted reproduction technologies DJ Amor, J Halliday Human Reproduction 23 (12), 2826-2834, 2008 | 314 | 2008 |
| A systematic review of brain MRI findings in monogenic disorders strongly associated with autism spectrum disorder V Frewer, CP Gilchrist, SE Collins, K Williams, ML Seal, RJ Leventer, ... Journal of Child Psychology and Psychiatry 62 (11), 1339-1352, 2021 | 9 | 2021 |
| AA Ng, AM Logan, EJ Schmidt, and FL Robinson, L Valdés-Sánchez, B De la Cerda, FJ Diaz-Corrales, ... Human Molecular Genetics 22 (8), 2013 | | 2013 |
| Abnormally Methylated FMR1 in Absence of a Detectable Full Mutation in a U.S.A Patient Cohort Referred for Fragile X Testing CH Hensel, RJ Vanzo, MM Martin, L Ling, SM Aliaga, M Bui, DI Francis, ... Scientific Reports 9 (1), 15315, 2019 | 9 | 2019 |
| Adverse obstetric and perinatal outcomes in subfertile women conceiving without assisted reproductive technologies AM Jaques, DJ Amor, HWG Baker, DL Healy, OC Ukoumunne, S Breheny, ... Fertility and sterility 94 (7), 2674-2679, 2010 | 189 | 2010 |
| Agreement between parents' and clinical researchers' ratings of behavioral problems in children with fragile X syndrome and chromosome 15 imprinting disorders M Arpone, L Bretherton, DJ Amor, SJC Hearps, C Rogers, MJ Field, ... Research in Developmental Disabilities 131, 104338, 2022 | 1 | 2022 |
| Alcohol consumption in a general antenatal population and child neurodevelopment at 2 years JL Halliday, E Muggli, S Lewis, EJ Elliott, DJ Amor, C O’Leary, S Donath, ... J Epidemiol Community Health 71 (10), 990-998, 2017 | 25 | 2017 |
