Martin Delatycki
Martin Delatycki
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Cited by
Cited by
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
Friedreich ataxia: an overview
MB Delatycki, R Williamson, SM Forrest
Journal of medical genetics 37 (1), 1-8, 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
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
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
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
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
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
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
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
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
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
Clinical features of Friedreich ataxia
MB Delatycki, LA Corben
Journal of child neurology 27 (9), 1133-1137, 2012
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
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
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
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
Effects of MECP2 mutation type, location and X‐inactivation in modulating Rett syndrome phenotype
LS Weaving, SL Williamson, B Bennetts, M Davis, CJ Ellaway, H Leonard, ...
American Journal of Medical Genetics Part A 118 (2), 103-114, 2003
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
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis
P Mill, PJ Lockhart, E Fitzpatrick, HS Mountford, EA Hall, MAM Reijns, ...
The American Journal of Human Genetics 88 (4), 508-515, 2011
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