| Iron-Overload–Related Disease in HFE Hereditary Hemochromatosis KJ Allen, LC Gurrin, CC Constantine, NJ Osborne, MB Delatycki, AJ Nicoll, ... New England Journal of Medicine 358 (3), 221-230, 2008 | 899 | 2008 |
| Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases HAF Stessman, BO Xiong, BP Coe, T Wang, K Hoekzema, M Fenckova, ... Nature genetics 49 (4), 515-526, 2017 | 575 | 2017 |
| C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy A Richards, AMJM Van Den Maagdenberg, JC Jen, D Kavanagh, ... Nature genetics 39 (9), 1068-1070, 2007 | 484 | 2007 |
| Friedreich ataxia: an overview MB Delatycki, R Williamson, SM Forrest Journal of medical genetics 37 (1), 1-8, 2000 | 482 | 2000 |
| Carrier screening for beta-thalassaemia: a review of international practice NE Cousens, CL Gaff, SA Metcalfe, MB Delatycki European journal of human genetics 18 (10), 1077-1083, 2010 | 312 | 2010 |
| GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype WA Paznekas, B Karczeski, S Vermeer, RB Lowry, M Delatycki, ... Human mutation 30 (5), 724-733, 2009 | 299 | 2009 |
| Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course F Squitieri, C Gellera, M Cannella, C Mariotti, G Cislaghi, DC Rubinsztein, ... Brain 126 (4), 946-955, 2003 | 283 | 2003 |
| Mutations in PHF6 are associated with Börjeson–Forssman–Lehmann syndrome KM Lower, G Turner, BA Kerr, KD Mathews, MA Shaw, ÁK Gedeon, ... Nature genetics 32 (4), 661-665, 2002 | 256 | 2002 |
| Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology GR Wilson, JCH Sim, C McLean, M Giannandrea, CA Galea, JR Riseley, ... The American Journal of Human Genetics 95 (6), 729-735, 2014 | 248 | 2014 |
| Bioinformatics-based identification of expanded repeats: a non-reference intronic pentamer expansion in RFC1 causes CANVAS H Rafehi, DJ Szmulewicz, MF Bennett, NLM Sobreira, K Pope, KR Smith, ... The American Journal of Human Genetics 105 (1), 151-165, 2019 | 239 | 2019 |
| Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features D Lessel, B Vaz, S Halder, PJ Lockhart, I Marinovic-Terzic, ... Nature genetics 46 (11), 1239-1244, 2014 | 232 | 2014 |
| Safety and efficacy of omaveloxolone in Friedreich ataxia (MOXIe study) DR Lynch, MP Chin, MB Delatycki, SH Subramony, M Corti, JC Hoyle, ... Annals of neurology 89 (2), 212-225, 2021 | 211 | 2021 |
| Clinical features of Friedreich ataxia MB Delatycki, LA Corben Journal of child neurology 27 (9), 1133-1137, 2012 | 210 | 2012 |
| Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxia MB Delatycki, J Camakaris, H Brooks, T Evans‐Whipp, DR Thorburn, ... Annals of Neurology: Official Journal of the American Neurological …, 1999 | 203 | 1999 |
| Communicating genetic information in families–a review of guidelines and position papers LE Forrest, MB Delatycki, L Skene, MA Aitken European Journal of Human Genetics 15 (6), 612-618, 2007 | 186 | 2007 |
| Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine–binding protein cause nonsyndromic X-linked mental retardation K Freude, K Hoffmann, LR Jensen, MB Delatycki, V Des Portes, B Moser, ... The American Journal of Human Genetics 75 (2), 305-309, 2004 | 183 | 2004 |
| Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders T Wang, K Hoekzema, D Vecchio, H Wu, A Sulovari, BP Coe, ... Nature communications 11 (1), 4932, 2020 | 176 | 2020 |
| Further molecular and clinical delineation of co-locating 17p13. 3 microdeletions and microduplications that show distinctive phenotypes DL Bruno, BM Anderlid, A Lindstrand, C van Ravenswaaij-Arts, ... Journal of Medical Genetics 47 (5), 299-311, 2010 | 174 | 2010 |
| HFE C282Y homozygotes are at increased risk of breast and colorectal cancer NJ Osborne, LC Gurrin, KJ Allen, CC Constantine, MB Delatycki, ... Hepatology 51 (4), 1311-1318, 2010 | 171 | 2010 |
| Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the Australian public health care system S Lunke, S Eggers, M Wilson, C Patel, CP Barnett, J Pinner, ... Jama 323 (24), 2503-2511, 2020 | 170 | 2020 |
