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 | 875 | 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 | 530 | 2017 |
Friedreich ataxia: an overview MB Delatycki, R Williamson, SM Forrest Journal of medical genetics 37 (1), 1-8, 2000 | 461 | 2000 |
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 | 455 | 2007 |
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 | 300 | 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 | 293 | 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 | 276 | 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 | 247 | 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 | 239 | 2014 |
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 | 218 | 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 | 216 | 2019 |
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 | 201 | 1999 |
Clinical features of Friedreich ataxia MB Delatycki, LA Corben Journal of child neurology 27 (9), 1133-1137, 2012 | 196 | 2012 |
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 | 181 | 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 | 173 | 2004 |
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 | 172 | 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 | 168 | 2010 |
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 | 166 | 2021 |
Clinical and genetic study of Friedreich ataxia in an Australian population MB Delatycki, DBBP Paris, RJMK Gardner, GA Nicholson, N Nassif, ... American journal of medical genetics 87 (2), 168-174, 1999 | 165 | 1999 |
Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype MG De Silva, K Elliott, HH Dahl, E Fitzpatrick, S Wilcox, M Delatycki, ... Journal of medical genetics 40 (10), 733-740, 2003 | 161 | 2003 |