| Chromosome translocations in couples with in-vitro fertilization implantation failure C Stern, M Pertile, H Norris, L Hale, HWG Baker Human Reproduction 14 (8), 2097-2101, 1999 | 244 | 1999 |
| Rapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA) HR Slater, DL Bruno, H Ren, M Pertile, JP Schouten, KHA Choo Journal of medical genetics 40 (12), 907-912, 2003 | 208 | 2003 |
| Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease MD Pertile, M Halks-Miller, N Flowers, C Barbacioru, SL Kinnings, ... Science translational medicine 9 (405), eaan1240, 2017 | 177 | 2017 |
| Case Report: Delivery of normal twins following the intracytoplasmic injection of spermatozoa from a patient with 47, XXY Klinefelter's syndrome H Bourne, K Stern, G Clarke, M Pertile, A Speirs, HWG Baker Human reproduction 12 (11), 2447-2450, 1997 | 160 | 1997 |
| Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests AD Archibald, MJ Smith, T Burgess, KL Scarff, J Elliott, CE Hunt, ... Genetics in Medicine 20 (5), 513-523, 2018 | 116 | 2018 |
| Harmonizing cell-free DNA collection and processing practices through evidence-based guidance SR Greytak, KB Engel, S Parpart-Li, M Murtaza, AJ Bronkhorst, MD Pertile, ... Clinical Cancer Research 26 (13), 3104-3109, 2020 | 103 | 2020 |
| Abnormal plasma DNA profiles in early ovarian cancer using a non-invasive prenatal testing platform: implications for cancer screening PA Cohen, N Flowers, S Tong, N Hannan, MD Pertile, L Hui BMC medicine 14, 1-6, 2016 | 92 | 2016 |
| Methylation of the adenomatous polyposis coli (APC) gene in human placenta and hypermethylation in choriocarcinoma cells NC Wong, B Novakovic, B Weinrich, C Dewi, R Andronikos, M Sibson, ... Cancer letters 268 (1), 56-62, 2008 | 81 | 2008 |
| Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping DL Bruno, SM White, D Ganesamoorthy, T Burgess, K Butler, S Corrie, ... Journal of medical genetics 48 (12), 831-839, 2011 | 79 | 2011 |
| High‐throughput analysis of chromosome abnormality in spontaneous miscarriage using an MLPA subtelomere assay with an ancillary FISH test for polyploidy DL Bruno, T Burgess, H Ren, S Nouri, MD Pertile, DI Francis, F Norris, ... American Journal of Medical Genetics Part A 140 (24), 2786-2793, 2006 | 77 | 2006 |
| Rapid evolution of mouse Y centromere repeat DNA belies recent sequence stability MD Pertile, AN Graham, KHA Choo, P Kalitsis Genome research 19 (12), 2202-2213, 2009 | 72 | 2009 |
| International Society for Prenatal Diagnosis Position Statement: cell free (cf) DNA screening for Down syndrome in multiple pregnancies GE Palomaki, RWK Chiu, MD Pertile, EA Sistermans, Y Yaron, ... Prenatal diagnosis 41 (10), 1222-1232, 2021 | 68 | 2021 |
| Position statement from the International Society for Prenatal Diagnosis on the use of non‐invasive prenatal testing for the detection of fetal chromosomal conditions in … L Hui, K Ellis, D Mayen, MD Pertile, R Reimers, L Sun, J Vermeesch, ... Prenatal Diagnosis 43 (7), 814-828, 2023 | 65 | 2023 |
| ‘Is it better not to know certain things?’: views of women who have undergone non-invasive prenatal testing on its possible future applications H Bowman-Smart, J Savulescu, C Mand, C Gyngell, MD Pertile, S Lewis, ... Journal of medical ethics 45 (4), 231-238, 2019 | 54 | 2019 |
| Ectopic bone formation by mesenchymal stem cells derived from human term placenta and the decidua GD Kusuma, D Menicanin, S Gronthos, U Manuelpillai, MH Abumaree, ... PloS one 10 (10), e0141246, 2015 | 53 | 2015 |
| Meeting the challenge of interpreting high‐resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of … D Ganesamoorthy, DL Bruno, G McGillivray, F Norris, SM White, S Adroub, ... BJOG: An International Journal of Obstetrics & Gynaecology 120 (5), 594-606, 2013 | 50 | 2013 |
| Mesenchymal stem/stromal cells derived from a reproductive tissue niche under oxidative stress have high aldehyde dehydrogenase activity GD Kusuma, MH Abumaree, MD Pertile, AV Perkins, SP Brennecke, ... Stem Cell Reviews and Reports 12, 285-297, 2016 | 49 | 2016 |
| Establishment and characterization of fetal and maternal mesenchymal stem/stromal cell lines from the human term placenta SQ Qin, GD Kusuma, B Al-Sowayan, RA Pace, S Isenmann, MD Pertile, ... Placenta 39, 134-146, 2016 | 48 | 2016 |
| Prospective ranking of the sonographic markers for aneuploidy: data of 2143 prenatal cytogenetic diagnoses referred for abnormalities on ultrasound A Daniel, N Athayde, R Ogle, AM George, J Michael, M Pertile, J Bryan, ... Australian and New Zealand journal of obstetrics and gynaecology 43 (1), 16-26, 2003 | 48 | 2003 |
| ‘Small cost to pay for peace of mind’: Women's experiences with non‐invasive prenatal testing H Bowman‐Smart, J Savulescu, C Mand, C Gyngell, MD Pertile, S Lewis, ... Australian and New Zealand Journal of Obstetrics and Gynaecology 59 (5), 649-655, 2019 | 46 | 2019 |
