Martin Delatycki

Professor

19992020

Research output per year

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Research Output

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Article
1999

Clinical and genetic study of Friedreich ataxia in an Australian population

Delatycki, M. B., Damien, B. B., Gardner, R. J., Nicholson, G. A., Nassif, N., Storey, E., Macmillan, J. C., Collins, V., Williamson, R. S. B. & Forrest, S. M., 1999, In : American Journal of Medical Genetics. p. 168 - 174 7 p.

Research output: Contribution to journalArticleResearchpeer-review

110 Citations (Scopus)
2001

New variant of familial cerebellar ataxia with hypergonadotropic hypogonadism and sensorineural deafness

Amor, D. J., Delatycki, M. B., McKinlay Gardner, R. J. & Storey, E., 2001, In : American Journal of Medical Genetics. 99, p. 29 - 33 5 p.

Research output: Contribution to journalArticleResearchpeer-review

27 Citations (Scopus)
2004

Growth, Behavior, and Clinical Findings in 27 Patients with Kabuki (niikawa-Kuroki) Syndrome

White, S., Thompson, E., Kidd, A., Savarirayan, R., Turner, A., Amor, D., Delatycki, M., Fahey, M., Baxendale, A., White, S., Haan, E., Gibson, K., Halliday, J. & Bankier, A., 2004, In : American Journal of Medical Genetics Part A. 127A, p. 118 - 127 10 p.

Research output: Contribution to journalArticleResearchpeer-review

53 Citations (Scopus)
2005

Screening couples for cystic fibrosis carrier status: why are we waiting?

Massie, R. J. H., Delatycki, M. B. & Bankier, A., 2005, In : The Medical Journal of Australia. 183, 10, p. 501 - 502 2 p.

Research output: Contribution to journalArticleResearchpeer-review

23 Citations (Scopus)

Spinocerebellar ataxia type 14: Study of a family with an exon 5 mutation in the PRKCG gene

Fahey, M. C., Knight, M. A., Shaw, J. H., Gardner, R. J. M., Du Sart, D., Lockhart, P. J., Delatycki, M. B., Gates, P. C. & Storey, E., 2005, In : Journal of Neurology, Neurosurgery and Psychiatry. 76, 12, p. 1720 - 1722 3 p.

Research output: Contribution to journalArticleResearchpeer-review

22 Citations (Scopus)

Surgery for equinovarus deformity in Friedreich's ataxia improves mobility and independence

Delatycki, M. B., Holian, A., Corben, L., Rawicki, H. B., Blackburn, C., Hoare, B., Toy, M. & Churchyard, A., Jan 2005, In : Clinical Orthopaedics and Related Research. 430, p. 138-141 4 p.

Research output: Contribution to journalArticleResearchpeer-review

27 Citations (Scopus)
2006

Fifteen years of experience in predictive testing for Huntington disease at a single testing center in Victoria, Australia

Trembath, M. K., Tassicker, R. J., Collins, V., Mansie, S., Sheffield, L. J. & Delatycki, M. B., 2006, In : Genetics in Medicine. 8, 11, p. 673 - 680 8 p.

Research output: Contribution to journalArticleResearchpeer-review

18 Citations (Scopus)

Long-term survival in a child with severe congenital contractural arachnodactyly, autism and severe intellectual disability

Snape, K. M. G., Fahey, M. C., McGillivray, G., Gupta, P., Milewicz, D. M. & Delatycki, M. B., 1 Apr 2006, In : Clinical Dysmorphology. 15, 2, p. 95-99 5 p.

Research output: Contribution to journalArticleResearchpeer-review

2 Citations (Scopus)

Towards an understanding of cognitive function in Friedreich ataxia

Corben, L. A., Georgiou-Karistianis, N., Fahey, M. C., Storey, E., Churchyard, A. J., Horne, M., Bradshaw, J. L. & Delatycki, M. B., 2006, In : Brain Research Bulletin. 70, 3, p. 197 - 202 6 p.

Research output: Contribution to journalArticleResearchpeer-review

37 Citations (Scopus)
2007

How is disease progress in Friedreich's ataxia best measured? A study of four rating scales

Fahey, M. C., Corben, L. A., Collins, V., Churchyard, A. J. & Delatycki, M. B., 2007, In : Journal of Neurology, Neurosurgery and Psychiatry. 78, 4, p. 411 - 413 3 p.

Research output: Contribution to journalArticleResearchpeer-review

65 Citations (Scopus)

Quality of life in Friedreich ataxia: What clinical, social and demographic factors are important?

Wilson, C. L., Fahey, M. C., Corben, L. A., Collins, V. R., Churchyard, A. J., Lamont, P. J. & Delatycki, M. B., 2007, In : European Journal of Neurology. 14, 9, p. 1040 - 1047 8 p.

Research output: Contribution to journalArticleResearchpeer-review

28 Citations (Scopus)

The 25-foot walk velocity accurately measures real world ambulation in Friedreich ataxia

Fahey, M. C., Corben, L. A., Collins, V., Churchyard, A. J. & Delatycki, M. B., 2007, In : Neurology. 68, 9, p. 705 - 706 2 p.

Research output: Contribution to journalArticleResearchpeer-review

13 Citations (Scopus)
2008

Iron-overload-related disease in HFE hereditary hemochromatosis

Allen, K. J., Gurrin, L. C., Constantine, C. C., Osborne, N. J., Delatycki, M. B., Nicoll, A. J., McLaren, C. E., Bahlo, M., Nisselle, A. E., Vulpe, C. D., Anderson, G. J., Southey, M. C., Giles, G. G., English, D. R., Hopper, J. L., Olynyk, J. K., Powell, L. W. & Gertig, D. M., 17 Jan 2008, In : The New England Journal of Medicine. 358, 3, p. 221-230 10 p.

Research output: Contribution to journalArticleResearchpeer-review

438 Citations (Scopus)

Speech perception ability in individuals with Friedreich ataxia

Rance, G., Fava, R., Baldock, H., Chong, A., Barker, E., Corben, L. & Delatycki, M. B., Aug 2008, In : Brain. 131, 8, p. 2002-2012 11 p.

Research output: Contribution to journalArticleResearchpeer-review

60 Citations (Scopus)

The Natural History of Serum Iron Indices for HFE C282Y Homozygosity Associated With Hereditary Hemochromatosis

Gurrin, L. C., Osborne, N. J., Constantine, C. C., McLaren, C. E., English, D. R., Gertig, D. M., Delatycki, M. B., Southey, M. C., Hopper, J. L., Giles, G. G., Anderson, G. J., Olynyk, J. K., Powell, L. W. & Allen, K. J., 1 Jan 2008, In : Gastroenterology. 135, 6, p. 1945-1952 8 p.

Research output: Contribution to journalArticleResearchpeer-review

66 Citations (Scopus)

Vestibular, saccadic and fixation abnormalities in genetically confirmed Friedreich ataxia

Fahey, M. C., Cremer, P. D., Aw, S. T., Millist, L., Todd, M., White, O., Halmagyi, M., Corben, L., Collins, V., Churchyard, A., Tan, K., Kowal, L. & Delatycki, M., 2008, In : Brain. 131, p. 1035 - 1045 11 p.

Research output: Contribution to journalArticleResearchpeer-review

81 Citations (Scopus)
2009

A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis

Constantine, C. C., Anderson, G. J., Vulpe, C. D., McLaren, C. E., Bahlo, M., Yeap, H. L., Gertig, D. M., Osborne, N. J., Bertalli, N. A., Beckman, K. B., Chen, V., Matak, P., McKie, A. T., Delatycki, M. B., Olynyk, J. K., English, D. R., Southey, M. C., Giles, G. G., Hopper, J. L., Allen, K. J. & 1 others, Gurrin, L. C., 1 Oct 2009, In : British Journal of Haematology. 147, 1, p. 140-149 10 p.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
47 Citations (Scopus)

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice

Bruno, D. L., Ganesamoorthy, D., Schoumans, J., Bankier, A., Coman, D., Delatycki, M., Gardner, R. J. M., Hunter, M., James, P. A., Kannu, P., McGillivray, G., Pachter, N., Peters, H., Rieubland, C., Savarirayan, R., Scheffer, I. E., Sheffield, L., Tan, T., White, S. M., Yeung, A. & 7 others, Bowman, Z., Ngo, C., Choy, K. W., Cacheux, V., Wong, L., Amor, D. J. & Slater, H. R., Feb 2009, In : Journal of Medical Genetics. 46, 2, p. 123-131 9 p.

Research output: Contribution to journalArticleResearchpeer-review

50 Citations (Scopus)

Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15

Ganesamoorthy, D., Bruno, D. L., Schoumans, J., Storey, E., Delatycki, M. B., Zhu, D., Wei, M., Nicholson, G. A., McKinley Gardner, R. J. & Slater, H., 2009, In : Clinical Chemistry. 55, 7, p. 1415 - 1418 4 p.

Research output: Contribution to journalArticleResearchpeer-review

27 Citations (Scopus)

HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity

Gurrin, L. C., Bertalli, N. A., Dalton, G. W., Osborne, N. J., Constantine, C. C., McLaren, C. E., English, D. R., Gertig, D. M., Delatycki, M. B., Nicoll, A. J., Southey, M. C., Hopper, J. L., Giles, G. G., Anderson, G. J., Olynyk, J. K., Powell, L. W. & Allen, K. J., 25 Nov 2009, In : Hepatology. 50, 1, p. 94-101 8 p.

Research output: Contribution to journalArticleResearchpeer-review

64 Citations (Scopus)

Population-based carrier screening for cystic fibrosis in Victoria: The first three years experience: Original Article

Massie, J. A., Petrou, V., Forbes, R., Curnow, L., Ioannou, L., Dusart, D., Bankier, A. & Delatycki, M., Oct 2009, In : Australian and New Zealand Journal of Obstetrics and Gynaecology. 49, 5, p. 484-489 6 p.

Research output: Contribution to journalArticleResearchpeer-review

33 Citations (Scopus)
2010

A comparison of three measures of upper limb function in Friedreich ataxia

Corben, L. A., Tai, G., Wilson, C. L., Collins, V., Churchyard, A. J. & Delatycki, M. B., 2010, In : Emergency Medicine Journal. 257, 4, p. 518 - 523 6 p.

Research output: Contribution to journalArticleResearchpeer-review

18 Citations (Scopus)

Auditory perception in individuals with friedreich's ataxia

Rance, G., Corben, L., Barker, E., Carew, P., Chisari, D., Rogers, M., Dowell, R., Jamaluddin, S., Bryson, R. & Delatycki, M. B., May 2010, In : Audiology and Neuro-Otology. 15, 4, p. 229-240 12 p.

Research output: Contribution to journalArticleResearchpeer-review

33 Citations (Scopus)

Automatic method of pause measurement for normal and dysarthric speech

Rosen, K., Murdoch, B., Folker, J. E., Vogel, A., Cahill, L. M., Delatycki, M. & Corben, L., Feb 2010, In : Clinical Linguistics and Phonetics. 24, 2, p. 141-154 14 p.

Research output: Contribution to journalArticleResearchpeer-review

26 Citations (Scopus)

Deletion of the Parkin co-regulated gene causes defects in ependymal ciliary motility and hydrocephalus in the quakingviable mutant mouse

Wilson, G. R., Wang, H. X., Egan, G. F., Robinson, P. J., Delatycki, M. B., O'Bryan, M. K. & Lockhart, P. J., 2010, In : Human Molecular Genetics. 19, 8 (Art. No. ddq031), p. 1593 - 1602 10 p.

Research output: Contribution to journalArticleResearchpeer-review

36 Citations (Scopus)

Differentiating impairment levels in temporal versus spatial aspects of linguopalatal contacts in Friedreich's ataxia

Folker, J. E., Murdoch, B. E., Cahill, L. M., Rosen, K., Delatycki, M. B., Corben, L. A. & Vogel, A., 2010, In : Motor Control. 14, 4, p. 490 - 508 19 p.

Research output: Contribution to journalArticleResearchpeer-review

5 Citations (Scopus)

Disruption to higher order processes in Friedreich ataxia

Fielding, J., Corben, L., Cremer, P., Millist, L., White, O. B. & Delatycki, M., 2010, In : Neuropsychologia. 48, 1, p. 235 - 242 8 p.

Research output: Contribution to journalArticleResearchpeer-review

31 Citations (Scopus)

Dysarthria in Friedreich's ataxia: A perceptual analysis

Folker, J. E., Murdoch, B., Cahill, L. M., Delatycki, M., Corben, L. & Vogel, A., Apr 2010, In : Folia Phoniatrica et Logopaedica. 62, 3, p. 97-103 7 p.

Research output: Contribution to journalArticleResearchpeer-review

39 Citations (Scopus)

Evaluation of a multi-disease carrier screening programme in Ashkenazi Jewish high schools

Ioannou, L., Massie, J., Lewis, S., Petrou, V., Gason, A., Metcalfe, S., Aitken, M., Bankier, A. & Delatycki, M., 2010, In : Clinical Genetics. 78, 1, p. 21 - 31 11 p.

Research output: Contribution to journalArticleResearchpeer-review

29 Citations (Scopus)

HFE c282y homozygotes are at increased risk of breast and colorectal cancer

Osborne, N. J., Gurrin, L. C., Allen, K. J., Constantine, C. C., Delatycki, M. B., McLaren, C. E., Gertig, D. M., Anderson, G. J., Southey, M. C., Olynyk, J. K., Powell, L. W., Hopper, J. L., Giles, G. G. & English, D. R., 1 Apr 2010, In : Hepatology. 51, 4, p. 1311-1318 8 p.

Research output: Contribution to journalArticleResearchpeer-review

94 Citations (Scopus)

Impairment in motor reprogramming in Friedreich ataxia reflecting possible cerebellar dysfunction

Corben, L. A., Delatycki, M. B., Bradshaw, J. L., Horne, M. K., Fahey, M. C., Churchyard, A. J. & Georgiou-Karistianis, N., 2010, In : Journal of Neurology. 257, p. 782 - 791 9 p.

Research output: Contribution to journalArticleResearchpeer-review

28 Citations (Scopus)

Molecular analysis of the PArkin co-regulated gene and association with male infertility

Wilson, G. R., Sim, M. L-J., Brody, K. M., Taylor, J. M., McLachlan, R. I., O'Bryan, M. K., Delatycki, M. B. & Lockhart, P. J., 2010, In : Fertility and Sterility. 0, 7, p. 2262 - 2268 7 p.

Research output: Contribution to journalArticleResearchpeer-review

10 Citations (Scopus)

Ocular motor fixation deficits in Friedreich ataxia

Hocking, D., Fielding, J., Corben, L., Cremer, P., Millist, L., White, O. & Delatycki, M., 2010, In : Cerebellum. 9, p. 411 - 418 8 p.

Research output: Contribution to journalArticleResearchpeer-review

18 Citations (Scopus)

Population-based genetic screening for cystic fibrosis: Attitudes and outcomes

Ioannou, L., Massie, J., Collins, V., McClaren, B. & Delatycki, M., 2010, In : Public Health Genomics. 13, 7-8, p. 449 - 456 8 p.

Research output: Contribution to journalArticleResearchpeer-review

20 Citations (Scopus)

Successful treatment of auditory perceptual disorder in individuals with Friedreich ataxia

Rance, G., Corben, L. A., Du Bourg, E., King, A. & Delatycki, M. B., 1 Dec 2010, In : Neuroscience. 171, 2, p. 552-555 4 p.

Research output: Contribution to journalArticleResearchpeer-review

34 Citations (Scopus)
2011

A comparison of self-reported and record-linked blood donation history in an Australian cohort

Bertalli, N. A., Allen, K. J., McLaren, C. E., Turkovic, L., Osborne, N. J., Constantine, C. C., Delatycki, M. B., English, D. R., Giles, G. G., Hopper, J. L., Anderson, G. J., Olynyk, J. K., Powell, L. W. & Gurrin, L. C., Oct 2011, In : Transfusion. 51, 10, p. 2189-2198 10 p.

Research output: Contribution to journalArticleResearchpeer-review

8 Citations (Scopus)

A novel deletion-insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype

Evans-Galea, M., Corben, L., Hasell, J., Galea, C., Fahey, M., Du Sart, D. & Delatycki, M., 2011, In : Neurogenetics. 12, 4, p. 307 - 313 7 p.

Research output: Contribution to journalArticleResearchpeer-review

11 Citations (Scopus)

A polymorphic miR-155 binding site in AGTR1 is associated with cardiac hypertrophy in Friedreich ataxia

Kelly, M., Bagnall, R., Peverill, R. E., Donelan, L., Corben, L., Delatycki, M. & Semsarian, C., 2011, In : Journal of Molecular and Cellular Cardiology. 51, 5, p. 848 - 854 7 p.

Research output: Contribution to journalArticleResearchpeer-review

31 Citations (Scopus)

Articulatory kinematics in the dysarthria associated with Friedreich's ataxia

Folker, J. E., Murdoch, B. E., Cahill, L. M., Rosen, K. M., Delatycki, M. B., Corben, L. A. & Vogel, A. P., 2011, In : Motor Control. 15, 3, p. 376-389 14 p.

Research output: Contribution to journalArticleResearchpeer-review

4 Citations (Scopus)

Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia

Holloway, T. P., Rowley, S. M., Delatycki, M. B. & Sarsero, J. P., Mar 2011, In : BioTechniques. 50, 3, p. 182-186 5 p.

Research output: Contribution to journalArticleResearchpeer-review

10 Citations (Scopus)

Generation of induced pluripotent stem cell lines from Friedreich ataxia patients

Liu, J., Verma, P., Evans-Galea, M., Delatycki, M., Michalska, A., Leung, J., Crombie, D., Sarsero, J., Williamson, R., Dottori, M. & Pebay, A., 2011, In : Stem Cell Reviews and Reports. 7, 3, p. 703 - 713 11 p.

Research output: Contribution to journalArticleResearchpeer-review

77 Citations (Scopus)

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis

Mill, P., Lockhart, P. J., Fitzpatrick, E. B., Mountford, H. S., Hall, E. A., Reijns, M. A. M., Keighren, M., Bahlo, M., Bromhead, C. J., Budd, P., Aftimos, S., Delatycki, M. B., Savarirayan, R., Jackson, I. J. & Amor, D. J., 8 Apr 2011, In : American Journal of Human Genetics. 88, 4, p. 508-515 8 p.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
File
80 Citations (Scopus)

Impaired inhibition of prepotent motor tendencies in Friedreich ataxia demonstrated by the Simon interference task

Corben, L., Akhlaghi, H., Georgiou-Karistianis, N., Bradshaw, J., Egan, G., Storey, E., Churchyard, A. & Delatycki, M., 2011, In : Brain and Cognition. 76, 1, p. 140 - 145 6 p.

Research output: Contribution to journalArticleResearchpeer-review

17 Citations (Scopus)

Kinematic analysis of lingual movements during consonant productions in dysarthric speakers with Friedreich's ataxia: A case-by-case analysis

Folker, J. E., Murdoch, B. E., Cahill, L. M., Delatycki, M. B., Corben, L. A. & Vogel, A. P., Jan 2011, In : Clinical Linguistics and Phonetics. 25, 1, p. 66-79 14 p.

Research output: Contribution to journalArticleResearchpeer-review

7 Citations (Scopus)

Long range regulation of human FXN gene expression

Puspasari, N., Rowley, S. M., Gordon, L., Lockhart, P. J., Ioannou, P. A., Delatycki, M. B. & Sarsero, J. P., 2011, In : PLoS ONE. 6, 7, 14 p., e22001.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
File
6 Citations (Scopus)

Measures of spectral change and their application to habitual, slow, and clear speaking modes

Rosen, K. M., Folker, J. E., Murdoch, B. E., Vogel, A. P., Cahill, L. M., Delatycki, M. B. & Corben, L. A., Apr 2011, In : International Journal of Speech-Language Pathology. 13, 2, p. 165-173 9 p.

Research output: Contribution to journalArticleResearchpeer-review

8 Citations (Scopus)

Spectral measures of the effects of Friedreich's ataxia on speech

Rosen, K. M., Folker, J. E., Murdoch, B. E., Vogel, A. P., Cahill, L. M., Delatycki, M. B. & Corben, L. A., Aug 2011, In : International Journal of Speech-Language Pathology. 13, 4, p. 329-334 6 p.

Research output: Contribution to journalArticleResearchpeer-review

2 Citations (Scopus)

Superior cerebellar peduncle atrophy in Friedreich's ataxia correlates with disease symptoms

Akhlaghi, H., Corben, L., Georgiou-Karistianis, N., Bradshaw, J., Storey, E., Delatycki, M. & Egan, G., 2011, In : Cerebellum. 10, 1, p. 81 - 87 7 p.

Research output: Contribution to journalArticleResearchpeer-review

49 Citations (Scopus)

The Fitts task reveals impairments in planning and online control of movement in Friedreich Ataxia: Reduced cerebellar-cortico connectivity?

Corben, L. A., Georgiou-Karistianis, N., Bradshaw, J., Hocking, D., Churchyard, A. & Delatycki, M., 2011, In : Neuroscience. 192, p. 382 - 390 9 p.

Research output: Contribution to journalArticleResearchpeer-review

22 Citations (Scopus)