Martin Delatycki

Professor

19992020

Research output per year

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Research Output

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Article
2014

Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with a-synuclein pathology

Wilson, G. R. A-M., Sim, J. C. H., McLean, C. A., Giannandrea, M., Galea, C., Riseley, J. R., Stephenson, S. E. M., Fitzpatrick, E. B., Haas, S. A., Pope, K., Hogan, K., Gregg, R. G., Bromhead, C. J., Wargowski, D. S., Lawrence, C. H., James, P., Churchyard, A. J., Gao, Y., Phelan, D. G., Gillies, G. & 13 others, Salce, N., Stanford, L., Marsh, A. P. L., Mignogna, M. L., Hayflick, S. J., Leventer, R. J., Delatycki, M., Mellick, G. D., Kalscheuer, V. M., D'Adamo, P., Bahlo, M., Amor, D. J. & Lockhart, P. J., 2014, In : American Journal of Human Genetics. 95, 6, p. 729 - 735 7 p.

Research output: Contribution to journalArticleResearchpeer-review

96 Citations (Scopus)
11 Citations (Scopus)

'No thanks'-reasons why pregnant women declined an offer of cystic fibrosis carrier screening

Ioannou, L., Massie, J., Lewis, S., McClaren, B., Collins, V. R. & Delatycki, M., 2014, In : Journal of Community Genetics. 5, 2, p. 109 - 117 9 p.

Research output: Contribution to journalArticleResearchpeer-review

11 Citations (Scopus)

Population-based carrier screening for cystic fibrosis: a systematic review of 23 years of research

Ioannou, L., McClaren, B., Massie, J., Lewis, S., Metcalfe, S. A., Forrest, L. E. & Delatycki, M., 2014, In : Genetics in Medicine. 16, 3, p. 207 - 216 10 p.

Research output: Contribution to journalArticleResearchpeer-review

33 Citations (Scopus)

Saccade reprogramming in Friedreich ataxia reveals impairments in the cognitive control of saccadic eye movement

Hocking, D. R., Corben, L. A., Fielding, J., Cremer, P. D., Millist, L., White, O. B. & Delatycki, M., 2014, In : Brain and Cognition. 87, 1, p. 161 - 167 7 p.

Research output: Contribution to journalArticleResearchpeer-review

7 Citations (Scopus)

Sensitivity of spatiotemporal gait parameters in measuring disease severity in Friedreich ataxia

Milne, S. C., Hocking, D. R., Georgiou-Karistianis, N., Murphy, A. T., Delatycki, M. & Corben, L. A., 2014, In : Cerebellum. 13, 6, p. 677 - 688 12 p.

Research output: Contribution to journalArticleResearchpeer-review

15 Citations (Scopus)
2013

Analysis of the visual system in Friedreich ataxia

Seyer, L. A., Galetta, K., Wilson, J., Sakai, R., Perlman, S. L., Mathews, K. D., Wilmot, G. R., Gomez, C. M., Ravina, B., Zesiewicz, T. A., Bushara, K. O., Subramony, S. H., Ashizawa, T., Delatycki, M. B., Brocht, A. F. D., Balcer, L. J. & Lynch, D. R., Sep 2013, In : Journal of Neurology. 260, 9, p. 2362-2369 8 p.

Research output: Contribution to journalArticleResearchpeer-review

26 Citations (Scopus)

A new locus for X-linked dominant charcot-marie-tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene

Kennerson, M. L., Yiu, E. M., Chuang, D. T., Kidambi, A., Tso, S. C., Ly, C., Chaudhry, R., Drew, A. P., Rance, G., Delatycki, M. B., Züchner, S., Ryan, M. M. & Nicholson, G. A., Apr 2013, In : Human Molecular Genetics. 22, 7, p. 1404-1416 13 p., dds557.

Research output: Contribution to journalArticleResearchpeer-review

41 Citations (Scopus)

Common data elements for clinical research in Friedreich's ataxia

Lynch, D. R., Pandolfo, M., Schulz, J. B., Perlman, S. L., Delatycki, M. B., Payne, R. M., Shaddy, R., Fischbeck, K. H., Farmer, J. M., Kantor, P., Raman, S. V., Hunegs, L., Odenkirchen, J., Miller, K. & Kaufmann, P., Feb 2013, In : Movement Disorders. 28, 2, p. 190-195 6 p.

Research output: Contribution to journalArticleResearchpeer-review

12 Citations (Scopus)

Current practice and attitudes of australian obstetricians toward population-based carrier screening for inherited conditions

Stark, Z., Massie, J. A., McClaren, B., Ioannou, L., Cousens, N. E., Lewis, S., Metcalfe, S. & Delatycki, M. B., Apr 2013, In : Twin Research and Human Genetics. 16, 2, p. 601-607 7 p.

Research output: Contribution to journalArticleResearchpeer-review

12 Citations (Scopus)

Ethical dilemmas associated with genetic testing: Which are most commonly seen and how are they managed?

McLean, N., Delatycki, M. B., Macciocca, I. & Duncan, R. E., May 2013, In : Genetics in Medicine. 15, 5, p. 345-353 9 p.

Research output: Contribution to journalArticleResearchpeer-review

7 Citations (Scopus)

Excessive motor overflow reveals abnormal inter-hemispheric connectivity in Friedreich ataxia

Low, S. C., Corben, L. A., Delatycki, M., Ternes (Collier), A-M., Addamo, P. K. & Georgiou-Karistianis, N., 2013, In : Journal of Neurology. 260, 7, p. 1757 - 1764 8 p.

Research output: Contribution to journalArticleResearchpeer-review

1 Citation (Scopus)

"he didn't say that thalassaemia might come up" - β-thalassaemia carriers' experiences and attitudes

Cousens, N. E., Gaff, C. L., Metcalfe, S. A. & Delatycki, M. B., Apr 2013, In : Journal of Community Genetics. 4, 2, p. 223-232 10 p.

Research output: Contribution to journalArticleResearchpeer-review

5 Citations (Scopus)

Increased prevalence of sleep-disordered breathing in Friedreich ataxia

Corben, L. A., Ho, M., Copland, J. M., Tai, G. & Delatycki, M. B., 2 Jul 2013, In : Neurology. 81, 1, p. 46-51 6 p.

Research output: Contribution to journalArticleResearchpeer-review

14 Citations (Scopus)

"It was the missing piece": adolescent experiences of predictive genetic testing for adult-onset conditions

Mand, C., Gillam, L. H., Duncan, R. & Delatycki, M., 2013, In : Genetics in Medicine. 15, 8, p. 643 - 649 7 p.

Research output: Contribution to journalArticleResearchpeer-review

23 Citations (Scopus)

Offering fragile X syndrome carrier screening: A prospective mixed-methods observational study comparing carrier screening of pregnant and non-pregnant women in the general population

Martyn, M., Anderson, V. A., Archibald, A. D., Carter, R. C., Cohen, J., Delatycki, M., Donath, S., Emery, J., Halliday, J. L., Hill, M., Sheffield, L. J., Slater, H., Tassone, F., Younie, S. & Metcalfe, S. A., 2013, In : BMJ Open. 3, 9, p. 1 - 12 12 p., e003660.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
12 Citations (Scopus)

Pharmacological Screening Using an FXN-EGFP Cellular Genomic Reporter Assay for the Therapy of Friedreich Ataxia

Li, L., Voullaire, L., Sandi, C., Pook, M. A., Ioannou, P. A., Delatycki, M. B. & Sarsero, J. P., 13 Feb 2013, In : PLoS ONE. 8, 2, 13 p., e55940.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
21 Citations (Scopus)

Rating disease progression of Friedreich's ataxia by the International Cooperative Ataxia Rating Scale: Analysis of a 603-patient database

Metz, G., Coppard, N., Cooper, J. M., Delatycki, M. B., Dürr, A., Di Prospero, N. A., Giunti, P., Lynch, D. R., Schulz, J. B., Rummey, C. & Meier, T., 2013, In : Brain. 136, 1, p. 259-268 10 p.

Research output: Contribution to journalArticleResearchpeer-review

30 Citations (Scopus)

To tell or not to tell - what to do about p.C282Y heterozygotes identified by HFE screening

Delatycki, M., Wolthuizen, M., Aitken, M. A., Hickerton, C., Metcalfe, S. A. & Allen, K. J., Sep 2013, In : Clinical Genetics. 84, 3, p. 286-289 4 p.

Research output: Contribution to journalArticleResearchpeer-review

2 Citations (Scopus)

Understanding the costs of care for cystic fibrosis: An analysis by age and health state

van Gool, K., Norman, R., Delatycki, M. B., Hall, J. & Massie, J. A., Mar 2013, In : Value in Health. 16, 2, p. 345-355 11 p.

Research output: Contribution to journalArticleResearchpeer-review

49 Citations (Scopus)

Why do people choose not to have screening for hemochromatosis?

Wolthuizen, M., Nisselle, A., Halliday, J., Metcalfe, S. A., Aitken, M., Allen, K. J. & Delatycki, M. B., 1 Jan 2013, In : Genetic Testing and Molecular Biomarkers. 17, 1, p. 21-24 4 p.

Research output: Contribution to journalArticleResearchpeer-review

1 Citation (Scopus)
2012

A functional MRI study of motor dysfunction in Friedreich's ataxia

Akhlaghi, H., Corben, L. A., Georgiou-Karistianis, N., Bradshaw, J. L., Delatycki, M., Storey, E. & Egan, G. F., 2012, In : Brain Research. 1471, p. 138 - 154 17 p.

Research output: Contribution to journalArticleResearchpeer-review

18 Citations (Scopus)

An audit of clinical service examining the uptake of genetic testing by at-risk family members

Forrest, L. E., Delatycki, M., Curnow, L., Skene, L. & Aitken, M., Jan 2012, In : Genetics in Medicine. 14, 1, p. 122-128 7 p.

Research output: Contribution to journalArticleResearchpeer-review

12 Citations (Scopus)

Auditory processing deficits in children with Friedreich ataxia

Rance, G., Corben, L. & Delatycki, M., Sep 2012, In : Journal of Child Neurology. 27, 9, p. 1197-1203 7 p.

Research output: Contribution to journalArticleResearchpeer-review

18 Citations (Scopus)

Binaural speech processing in individuals with auditory neuropathy

Rance, G., Ryan, M. M., Carew, P. J., Corben, L. A., Yiu, E. M., Tan, J. & Delatycki, M. B., 13 Dec 2012, In : Neuroscience. 226, p. 227-235 9 p.

Research output: Contribution to journalArticleResearchpeer-review

19 Citations (Scopus)

Clinical features of Friedreich ataxia

Delatycki, M. B. & Corben, L. A., Sep 2012, In : Journal of Child Neurology. 27, 9, p. 1133-1137 5 p.

Research output: Contribution to journalArticleResearchpeer-review

72 Citations (Scopus)

Cost-effectiveness of carrier screening for cystic fibrosis in Australia

Norman, R., van Gool, K., Hall, J., Delatycki, M. & Massie, J. A., Jul 2012, In : Journal of Cystic Fibrosis. 11, 4, p. 281-287 7 p.

Research output: Contribution to journalArticleResearchpeer-review

16 Citations (Scopus)

Decreased functional brain activation in Friedreich ataxia using the Simon effect task

Georgiou-Karistianis, N., Akhlaghi, H., Corben, L. A., Delatycki, M., Storey, E., Bradshaw, J. L. & Egan, G. F., 2012, In : Brain and Cognition. 79, 3, p. 200 - 208 9 p.

Research output: Contribution to journalArticleResearchpeer-review

22 Citations (Scopus)

"Did you find that out in time?": New life trajectories of parents who choose to continue a pregnancy where a genetic disorder is diagnosed or likely

Hickerton, C. L., Aitken, M., Hodgson, J. & Delatycki, M. B., Feb 2012, In : American Journal of Medical Genetics Part A. 158 A, 2, p. 373-383 11 p.

Research output: Contribution to journalArticleResearchpeer-review

18 Citations (Scopus)

Differentiating profiles of speech impairments in Friedreich's ataxia: A perceptual and instrumental approach

Folker, J. E., Murdoch, B. E., Rosen, K. M., Cahill, L. M., Delatycki, M. B., Corben, L. A. & Vogel, A. P., Jan 2012, In : International Journal of Language and Communication Disorders. 47, 1, p. 65-76 12 p.

Research output: Contribution to journalArticleResearchpeer-review

12 Citations (Scopus)

Friedreich ataxia clinical outcome measures: Natural history evaluation in 410 participants

Regner, S. R., Wilcox, N. S., Friedman, L. S., Seyer, L. A., Schadt, K. A., Brigatti, K. W., Perlman, S. L., Delatycki, M., Wilmot, G. R., Gomez, C. M., Bushara, K. O., Mathews, K. D., Subramony, S. H., Ashizawa, T., Ravina, B., Brocht, A. F. D., Farmer, J. M. & Lynch, D. R., Sep 2012, In : Journal of Child Neurology. 27, 9, p. 1152-1158 7 p.

Research output: Contribution to journalArticleResearchpeer-review

28 Citations (Scopus)

FXN methylation predicts expression and clinical outcome in Friedreich ataxia

Evans-Galea, M. V., Carrodus, N., Rowley, S. M., Corben, L. A., Tai, G., Saffery, R., Galati, J. C., Wong, N. C., Craig, J. M., Lynch, D. R., Regner, S. R., Brocht, A. F. D., Perlman, S. L., Bushara, K. O., Gomez, C. M., Wilmot, G. R., Li, L., Varley, E., Delatycki, M. B. & Sarsero, J. P., 2012, In : Annals of Neurology. 71, 4, p. 487 - 497 11 p.

Research output: Contribution to journalArticleResearchpeer-review

75 Citations (Scopus)

HFE C282Y homozygosity is associated with an increased risk of total hip replacement for osteoarthritis

Wang, Y., Gurrin, L. C., Wluka, A., Bertalli, N., Osborne, N., Delatycki, M., Giles, G., English, D., Hopper, J., Simpson, J., Graves, S., Allen, K. & Cicuttini, F., 2012, In : Seminars in Arthritis and Rheumatism. 41, 6, p. 872 - 878 7 p.

Research output: Contribution to journalArticleResearchpeer-review

13 Citations (Scopus)

ironXS: High-school screening for hereditary haemochromatosis is acceptable and feasible

Delatycki, M. B., Wolthuizen, M., Collins, V., Varley, E., Craven, J., Allen, K. J., Gurrin, L. C., Aitken, M., Trembath, M. K., Bond, L., Wilson, G. R., Stephenson, S. E. M., Macciocca, I., Hickerton, C., Lockhart, P. J. & Metcalfe, S. A., May 2012, In : European Journal of Human Genetics. 20, 5, p. 505-509 5 p.

Research output: Contribution to journalArticleResearchpeer-review

4 Citations (Scopus)

Longitudinal change in dysarthria associated with Friedreich ataxia: A potential clinical endpoint

Rosen, K. M., Folker, J. E., Vogel, A. P., Corben, L. A., Murdoch, B. E. & Delatycki, M. B., Nov 2012, In : Journal of Neurology. 259, 11, p. 2471-2477 7 p.

Research output: Contribution to journalArticleResearchpeer-review

16 Citations (Scopus)

Retrospective study of the effects of inpatient rehabilitation on improving and maintaining functional independence in people with Friedreich Ataxia

Milne, S. C., Campagna, E., Corben, L. A., Delatycki, M. B., Teo, C. K., Churchyard, A. J. & Haines, T. P., 2012, In : Archives of Physical Medicine and Rehabilitation. 93, 10, p. 1860 - 1863 4 p.

Research output: Contribution to journalArticleResearchpeer-review

10 Citations (Scopus)

Tay sachs disease in Australia: Reduced disease incidence despite stable carrier frequency in Australian jews

Lew, R. M., Proos, A. L., Burnett, L., Delatycki, M., Bankier, A. & Fietz, M. J., 2012, In : The Medical Journal of Australia. 197, 11, p. 652-654 3 p.

Research output: Contribution to journalArticleResearchpeer-review

7 Citations (Scopus)

The ethics of screening for disease

Delatycki, M. B., Feb 2012, In : Pathology. 44, 2, p. 63-68 6 p.

Research output: Contribution to journalArticleResearchpeer-review

7 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)