Martin Delatycki

Professor

19992019
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Research Output 1999 2019

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2019

Longitudinal evaluation of iron concentration and atrophy in the dentate nuclei in friedreich ataxia

Ward, P. G. D., Harding, I. H., Close, T. G., Corben, L. A., Delatycki, M. B., Storey, E., Georgiou-Karistianis, N. & Egan, G. F., Mar 2019, In : Movement Disorders. 34, 3, p. 335-343 9 p.

Research output: Contribution to journalArticleResearchpeer-review

2018

Can rehabilitation improve the health and well-being in Friedreich’s ataxia: a randomized controlled trial?

Milne, S. C., Corben, L. A., Roberts, M., Murphy, A., Tai, G., Georgiou-Karistianis, N., Yiu, E. M. & Delatycki, M. B., 1 May 2018, In : Clinical Rehabilitation. 32, 5, p. 630-643 14 p.

Research output: Contribution to journalArticleResearchpeer-review

Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia

Ejaz, R., Chen, S., Isaacs, C. J., Carnevale, A., Wilson, J., George, K., Delatycki, M. B., Perlman, S. L., Mathews, K. D., Wilmot, G. R., Hoyle, J. C., Subramony, S. H., Zesiewicz, T., Farmer, J. M., Lynch, D. R. & Yoon, G., 1 May 2018, In : Journal of Child Neurology. 33, 6, p. 397-404 8 p.

Research output: Contribution to journalArticleResearchpeer-review

Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: Outcomes of 12,000 tests

Archibald, A. D., Smith, M. J., Burgess, T., Scarff, K. L., Elliott, J., Hunt, C. E., Barns-Jenkins, C., Holt, C., Sandoval, K., Kumar, V. S., Ward, L., Allen, E. C., Collis, S. V., Cowie, S., Francis, D., Delatycki, M. B., Yiu, E. M., John Massie, R., Pertile, M. D., Du Sart, D. & 2 othersBruno, D. & Amor, D. J., 2018, In : Genetics in Medicine. 20, 5, p. 513-523 11 p.

Research output: Contribution to journalArticleResearchpeer-review

Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction

Ravenscroft, G., Pannell, S., O'Grady, G., Ee, H. C., Faiz, F., Marns, L., Goel, H., Kumarasinghe, P., Sollis, E., Sivadorai, P., Wilson, M., Magoffin, A., Nightingale, S., Freckmann, M. L., Kirk, E. P., Sachdev, R., Lemberg, D. A., Delatycki, M. B., Kamm, M. A., Basnayake, C. & 6 othersLamont, P. J., Amor, D. J., Jones, K., Schilperoort, J., Davis, M. R. & Laing, N. G., Sep 2018, In : Neurogastroenterology and Motility. 30, 9, 9 p., e13371.

Research output: Contribution to journalArticleResearchpeer-review

2017

A longitudinal study of the SF-36 version 2 in Friedreich ataxia

Tai, G., Corben, L. A., Yiu, E. M. & Delatycki, M. B., 1 Jul 2017, In : Acta Neurologica Scandinavica. 136, 1, p. 41-46 6 p.

Research output: Contribution to journalArticleResearchpeer-review

A Novel Mechanism for Human Cardiac Ankyrin-B Syndrome due to Reciprocal Chromosomal Translocation

Huq, A. J., Pertile, M. D., Davis, A. M., Landon, H., James, P. A., Kline, C. F., Vohra, J., Mohler, P. J. & Delatycki, M. B., 1 Jun 2017, In : Heart Lung and Circulation. 26, 6, p. 612-618 7 p.

Research output: Contribution to journalArticleOtherpeer-review

Cerebral compensation during motor function in Friedreich ataxia: The IMAGE-FRDA study

Harding, I. H., Corben, L. A., Delatycki, M. B., Stagnitti, M. R., Storey, E., Egan, G. F. & Georgiou-Karistianis, N., Aug 2017, In : Movement Disorders. 32, 8, p. 1221-1229 9 p.

Research output: Contribution to journalArticleResearchpeer-review

Dysphagia in Friedreich Ataxia

Keage, M. J., Delatycki, M. B., Gupta, I., Corben, L. A. & Vogel, A. P., 4 Oct 2017, In : Dysphagia. 32, 5, p. 626-635 10 p.

Research output: Contribution to journalArticleResearchpeer-review

Expanding the phenotypic spectrum associated with mutations of DYNC1H1

Beecroft, S. J., McLean, C. A., Delatycki, M. B., Koshy, K., Yiu, E. M., Haliloglu, G., Orhan, D., Lamont, P. J., Davis, M. R., Laing, N. G. & Ravenscroft, G., 1 Jul 2017, In : Neuromuscular Disorders. 27, 7, p. 607-615 9 p.

Research output: Contribution to journalArticleResearchpeer-review

Friedreich's ataxia induced pluripotent stem cell-derived cardiomyocytes display electrophysiological abnormalities and calcium handling deficiency

Crombie, D. E., Curl, C. L., Raaijmakers, A. JA., Sivakumaran, P., Kulkarni, T., Wong, R. C. B., Minami, I., Evans-Galea, M. V., Lim, S. Y., Delbridge, L. M. D., Corben, L. A., Dottori, M., Nakatsuji, N., Trounce, I. A., Hewitt, A. W., Delatycki, M. B., Pera, M. F. & Pébay, A., 30 May 2017, In : Aging. 9, 5, p. 1440-1449 10 p.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
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HFE p.C282Y homozygosity predisposes to rapid serum ferritin rise after menopause: A genotype-stratified cohort study of hemochromatosis in Australian women

Warne, C. D., Zaloumis, S. G., Bertalli, N. A., Delatycki, M. B., Nicoll, A. J., McLaren, C. E., Hopper, J. L., Giles, G. G., Anderson, G. J., Olynyk, J. K., Powell, L. W., Allen, K. J., Gurrin, L. C. & for the HealthIron Study Investigators, 1 Apr 2017, In : Journal of Gastroenterology and Hepatology. 32, 4, p. 797-802 6 p.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
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How does performance of the Friedreich Ataxia Functional Composite compare to rating scales?

Tai, G., Yiu, E. M., Delatycki, M. B. & Corben, L. A., 1 Aug 2017, In : Journal of Neurology. 264, 8, p. 1768-1776 9 p.

Research output: Contribution to journalArticleResearchpeer-review

How should we deal with misattributed paternity? A survey of lay public attitudes

Lowe, G., Pugh, J., Kahane, G., Corben, L., Lewis, S., Delatycki, M. & Savulescu, J., 2 Oct 2017, In : AJOB Empirical Bioethics. 8, 4, p. 234-242 9 p.

Research output: Contribution to journalArticleResearchpeer-review

Impact of diabetes in the Friedreich ataxia clinical outcome measures study

McCormick, A., Farmer, J. M., Perlman, S. L., Delatycki, M., Wilmot, G. R., Matthews, K., Yoon, G., Hoyle, C., Subramony, S. H., Zesiewicz, T. A., Lynch, D. R. & McCormack, S. E., 1 Sep 2017, In : Annals of Clinical and Translational Neurology. 4, 9, p. 622-631 10 p.

Research output: Contribution to journalArticleResearchpeer-review

Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening

Metcalfe, S. A., Martyn, M., Ames, A., Anderson, V., Archibald, A. D., Carter, R., Cohen, J., Cotter, M., Dang, W., Delatycki, M. B., Donath, S., Edwards, S., Forbes, R., Gavrila, M., Halliday, J., Hickerton, C., Hill, M., Jacobs, L., Petrou, V., Plunkett, L. & 4 othersSheffield, L., Thornton, A., Younie, S. & Emery, J. D., 1 Jan 2017, In : Genetics in Medicine. 19, 12, p. 1346-1355 10 p.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
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Measuring Inhibition and Cognitive Flexibility in Friedreich Ataxia

Corben, L. A., Klopper, F., Stagnitti, M., Georgiou-Karistianis, N., Bradshaw, J. L., Rance, G. & Delatycki, M. B., 1 Aug 2017, In : Cerebellum. 16, 4, p. 757-763 7 p.

Research output: Contribution to journalArticleResearchpeer-review

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Marsh, A. P. L., Heron, D., Edwards, T. J., Quartier, A., Galea, C., Nava, C., Rastetter, A., Moutard, M. L., Anderson, V., Bitoun, P., Bunt, J., Faudet, A., Garel, C., Gillies, G., Gobius, I., Guegan, J., Heide, S., Keren, B., Lesne, F., Lukic, V. & 33 othersMandelstam, S. A., McGillivray, G., McIlroy, A., Méneret, A., Mignot, C., Morcom, L. R., Odent, S., Paolino, A., Pope, K., Riant, F., Robinson, G. A., Spencer-Smith, M., Srour, M., Stephenson, S. E. M., Tankard, R., Trouillard, O., Welniarz, Q., Wood, A., Brice, A., Rouleau, G., Attié-Bitach, T., Delatycki, M. B., Mandel, J. L., Amor, D. J., Roze, E., Piton, A., Bahlo, M., Billette De Villemeur, T., Sherr, E. H., Leventer, R. J., Richards, L. J., Lockhart, P. J. & Depienne, C., Apr 2017, In : Nature Genetics. 49, 4, p. 511-514 4 p.

Research output: Contribution to journalArticleResearchpeer-review

Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14

Stutterd, C., Diakumis, P., Bahlo, M., Fanjul Fernandez, M., Leventer, R. J., Delatycki, M., Amor, D., Chow, C. W., Stephenson, S., Meisler, M. H., Mclean, C. & Lockhart, P. J., 1 Dec 2017, In : Annals of Clinical and Translational Neurology. 4, 12, p. 859-864 6 p.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
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Reduction of body iron in HFE-related haemochromatosis and moderate iron overload (Mi-Iron): a multicentre, participant-blinded, randomised controlled trial

Ong, S. Y., Gurrin, L. C., Dolling, L., Dixon, J., Nicoll, A. J., Wolthuizen, M., Wood, E. M., Anderson, G. J., Ramm, G. A., Allen, K. J., Olynyk, J. K., Crawford, D., Ramm, L. E., Gow, P., Durrant, S., Powell, L. W. & Delatycki, M. B., 1 Dec 2017, In : The Lancet Haematology. 4, 12, p. e607-e614 8 p.

Research output: Contribution to journalArticleResearchpeer-review

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Stessman, H. A. F., Xiong, B., Coe, B. P., Wang, T., Hoekzema, K., Fenckova, M., Kvarnung, M., Gerdts, J., Trinh, S., Cosemans, N., Vives, L., Lin, J., Turner, T. N., Santen, G., Ruivenkamp, C. A. L., Kriek, M., Van Haeringen, A., Aten, E., Friend, K. L., Liebelt, J. & 33 othersBarnett, C., Haan, E., Shaw, M., Gecz, J., Anderlid, B. M., Nordgren, A., Lindstrand, A., Schwartz, C. E., Kooy, R. F., Vandeweyer, G., Helsmoortel, C., Romano, C., Alberti, A., Vinci, M., Avola, E., Giusto, S., Courchesne, E., Pramparo, T., Pierce, K., Nalabolu, S., Amaral, D. G., Scheffer, I. E., Delatycki, M. B., Lockhart, P. J., Hormozdiari, F., Harich, B., Castells-Nobau, A., Xia, K., Peeters, H., Nordenskjöld, M., Schenck, A., Bernier, R. A. & Eichler, E. E., 30 Mar 2017, In : Nature Genetics. 49, 4, p. 515-526 12 p.

Research output: Contribution to journalArticleResearchpeer-review

Voice in Friedreich Ataxia

Vogel, A. P., Wardrop, M. I., Folker, J. E., Synofzik, M., Corben, L. A., Delatycki, M. B. & Awan, S. N., 1 Mar 2017, In : Journal of Voice. 31, 2, p. 243.e9-243.e19 11 p.

Research output: Contribution to journalArticleResearchpeer-review

2016

Cerebral and cerebellar grey matter atrophy in Friedreich ataxia: the IMAGE-FRDA study

Selvadurai, L. P., Harding, I. H., Corben, L. A., Stagnitti, M. R., Storey, E., Egan, G. F., Delatycki, M. B. & Georgiou-Karistianis, N., 1 Nov 2016, In : Journal of Neurology. 263, 11, p. 2215-2223 9 p.

Research output: Contribution to journalArticleResearchpeer-review

Comorbid Medical Conditions in Friedreich Ataxia: Association with Inflammatory Bowel Disease and Growth Hormone Deficiency

Shinnick, J. E., Schadt, K., Strawser, C., Wilcox, N., Perlman, S. L., Wilmot, G. R., Gomez, C. M., Mathews, K. D., Yoon, G., Zesiewicz, T. A., Hoyle, C., Subramony, S. H., Yiu, E. M., Delatycki, M. B., Brocht, A. F. D., Farmer, J. M. & Lynch, D. R., 1 Aug 2016, In : Journal of Child Neurology. 31, 9, p. 1161-1165 5 p.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
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Compound heterozygous FXN mutations and clinical outcome in Friedreich ataxia

Galea, C., Huq, A., Lockhart, P. J., Tai, G., Corben, L., Yiu, E. M., Gurrin, L. C., Lynch, D. R., Gelbard, S., Durr, A., Pousset, F., Parkinson, M., Labrum, R., Giunti, P., Perlman, S. L., Delatycki, M. & Evans-Galea, M. V., 2016, In : Annals of Neurology. 79, 3, p. 485-495 11 p.

Research output: Contribution to journalArticleResearchpeer-review

Congenital biparietal foramina presenting with multiple concussions

Abdul Jalil, M. F., Russell, J., Delatycki, M. & Gonzalvo, A., 1 Jun 2016, In : Clinical Neurology and Neurosurgery. 145, p. 6-7 2 p.

Research output: Contribution to journalArticleResearchpeer-review

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3

Sim, J. C. H., Scerri, T., Fanjul-Fernández, M., Riseley, J. R., Gillies, G., Pope, K., Van Roozendaal, H., Heng, J. I., Mandelstam, S. A., McGillivray, G., MacGregor, D., Kannan, L., Maixner, W., Harvey, S. A., Amor, D. J., Delatycki, M. B., Crino, P. B., Bahlo, M., Lockhart, P. J. & Leventer, R. J., 1 Jan 2016, In : Annals of Neurology. 79, 1, p. 132-137 6 p.

Research output: Contribution to journalArticleResearchpeer-review

Fronto-cerebellar dysfunction and dysconnectivity underlying cognition in Friedreich Ataxia: the IMAGE-FRDA study

Harding, I. H., Corben, L. A., Storey, E., Egan, G. F., Stagnitti, M. R., Poudel, G. R., Delatycki, M. B. & Georgiou-Karistianis, N., Jan 2016, In : Human Brain Mapping. 37, 1, p. 338-350 13 p.

Research output: Contribution to journalArticleResearchpeer-review

Gastrocnemius and soleus spasticity and muscle length in Friedreich's ataxia

Milne, S. C., Corben, L. A., Yiu, E., Delatycki, M. B. & Georgiou-Karistianis, N., 1 Jul 2016, In : Journal of Clinical Neuroscience. 29, p. 29-34 6 p.

Research output: Contribution to journalArticleResearchpeer-review

Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency

Amor, D. J., Marsh, A. P. L., Storey, E., Tankard, R., Gillies, G., Delatycki, M., Pope, K., Bromhead, C. J., Leventer, R. J., Bahlo, M. & Lockhart, P. J., Dec 2016, In : Neurology. 2, 6, 8 p., e114.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
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Outcomes of a randomised controlled trial of a complex genetic counselling intervention to improve family communication

Hodgson, J., Metcalfe, S., Gaff, C., Donath, S., Delatycki, M. B., Winship, I., Skene, L., Aitken, M. A. & Halliday, J., 1 Mar 2016, In : European Journal of Human Genetics. 24, 3, p. 356-360 5 p.

Research output: Contribution to journalArticleResearchpeer-review

Predictive genetic testing for neurodegenerative conditions: How should conflicting interests within families be managed?

Stark, Z., Wallace, J., Gillam, L., Burgess, M. & Delatycki, M. B., 1 Oct 2016, In : Journal of Medical Ethics. 42, 10, p. 640-642 3 p.

Research output: Contribution to journalArticleResearchpeer-review

RAD51B in familial breast cancer

Pelttari, L. M., Khan, S., Vuorela, M., Kiiski, J. I., Vilske, S., Nevanlinna, V., Ranta, S., Schleutker, J., Winqvist, R., Kallioniemi, A., Dörk, T., Bogdanova, N. V., Figueroa, J., Pharoah, P. D. P., Schmidt, M. K., Dunning, A. M., García-Closas, M., Bolla, M. K., Dennis, J., Michailidou, K. & 78 othersWang, Q., Hopper, J. L., Southey, M. C., Rosenberg, E. H., Fasching, P. A., Beckmann, M. W., Peto, J., Dos-Santos-silva, I., Sawyer, E. J., Tomlinson, I., Burwinkel, B., Surowy, H., Guénel, P., Truong, T., Bojesen, S. E., Nordestgaard, B. G., Benitez, J., González-Neira, A., Neuhausen, S. L., Anton-Culver, H., Brenner, H., Arndt, V., Meindl, A., Schmutzler, R. K., Brauch, H., Brüning, T., Lindblom, A., Margolin, S., Mannermaa, A., Hartikainen, J. M., Chenevix-Trench, G., kConFab/AOCS Investigators, Van Dyck, L., Janssen, H., Chang-Claude, J., Rudolph, A., Radice, P., Peterlongo, P., Hallberg, E., Olson, J. E., Giles, G., Milne, R. L., Haiman, C. A., Schumacher, F., Simard, J., Dumont, M., Kristensen, V., Borresen-Dale, A. L., Zheng, W., Beeghly-Fadiel, A., Grip, M., Andrulis, I. L., Glendon, G., Devilee, P., Seynaeve, C., Hooning, M. J., Collée, M., Cox, A., Cross, S. S., Shah, M., Luben, R. N., Hamann, U., Torres, D., Jakubowska, A., Lubinski, J., Couch, F. J., Yannoukakos, D., Orr, N., Swerdlow, A., Darabi, H., Li, J., Czene, K., Hall, P., Easton, D. F., Mattson, J., Blomqvist, C., Aittomäki, K. & Nevanlinna, H., 1 Jan 2016, In : PLoS ONE. 11, 5, 18 p., e0153788.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
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2015

A longitudinal study of the Friedreich Ataxia Impact Scale

Tai, G., Yiu, E. M., Corben, L. A. & Delatycki, M., 2015, In : Journal of the Neurological Sciences. 352, 1-2 (Art. No: 13703), p. 53 - 57 5 p.

Research output: Contribution to journalArticleResearchpeer-review

Annexin A1 expression in a pooled breast cancer series: Association with tumor subtypes and prognosis

Sobral-Leite, M., Wesseling, J., Smit, V. T. H. B. M., Nevanlinna, H., van Miltenburg, M. H., Sanders, J., Hofland, I., Blows, F. M., Coulson, P., Patrycja, G., Schellens, J. H. M., Fagerholm, R., Heikkilä, P., Aittomäki, K., Blomqvist, C., Provenzano, E., Ali, H. R., Figueroa, J., Sherman, M., Lissowska, J. & 27 othersMannermaa, A., Kataja, V., Kosma, V. M., Hartikainen, J. M., Phillips, K. A., kConFab/AOCS Investigators, Couch, F. J., Olson, J. E., Vachon, C., Visscher, D., Brenner, H., Butterbach, K., Arndt, V., Holleczek, B., Hooning, M. J., Hollestelle, A., Martens, J. W. M., van Deurzen, C. H. M., van de Water, B., Broeks, A., Chang-Claude, J., Chenevix-Trench, G., Easton, D. F., Pharoah, P. D. P., García-Closas, M., de Graauw, M. & Schmidt, M. K., 2 Jul 2015, In : BMC Medicine. 13, 1, 11 p., 156.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
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An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels

Yiu, E. M., Tai, G., Peverill, R. E., Lee, K. J., Croft, K. D., Mori, T. A., Scheiber-Mojdehkar, B., Sturm, B., Praschberger, M., Vogel, A. P., Rance, G., Stephenson, S. E. M., Sarsero, J. P., Stockley, C., Lee, C-Y. J., Churchyard, A., Evans-Galea, M. V., Ryan, M. M., Lockhart, P. J., Corben, L. A. & 1 othersDelatycki, M. B., 7 Apr 2015, In : Journal of Neurology. 262, 5, p. 1344-1353 10 p.

Research output: Contribution to journalArticleResearchpeer-review

A study of up to 12 years of follow-up of Friedreich ataxia utilising four measurement tools

Tai, G., Corben, L. A., Gurrin, L. C., Yiu, E. M., Churchyard, A. J., Fahey, M. C., Hoare, B. J., Downie, S. N. & Delatycki, M., 2015, In : Journal of Neurology, Neurosurgery and Psychiatry. 86, 6, p. 660 - 666 7 p.

Research output: Contribution to journalArticleResearchpeer-review

A Systematic Review of Self-reported Swallowing Assessments in Progressive Neurological Disorders

Keage, M. J., Delatycki, M., Corben, L. & Vogel, A., 2015, In : Dysphagia. 30, 1, p. 27-46 20 p.

Research output: Contribution to journalArticleResearchpeer-review

"Both sides of the wheelchair": the views of individuals with, and parents of individuals with Friedreich Ataxia regarding pre-symptomatic testing of minors

Lowe, G. C., Corben, L. A., Duncan, R. E., Yoon, G. & Delatycki, M., 2015, In : Journal of Genetic Counseling. 24, 5, p. 732 - 743 12 p.

Research output: Contribution to journalArticleResearchpeer-review

Characterization of the retinal pigment epithelium in Friedreich ataxia

Crombie, D. E., Van Bergen, N. J., Davidson, K. C., Anjomani-Virmouni, S., McKelvie, P. A., Chrysostomou, V., Conquest, A., Corben, L. A., Pook, M. A., Kulkarni, T., Trounce, I. A., Pera, M. F., Delatycki, M. & Pebay, A., 2015, In : Biochemistry and Biophysics Reports. 4, p. 141 - 147 7 p.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
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Genetic testing of stored tissue from a deceased person to define a relative's disease risk: Legal and ethical viewpoints

Skene, L., Savulescu, J. & Delatycki, M. B., 1 Jun 2015, In : Journal of law and medicine. 22, 4, p. 864-870 7 p.

Research output: Contribution to journalArticleResearchpeer-review

Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR

Leventer, R. J., Scerri, T., Marsh, A. P. L., Pope, K., Gillies, G., Maixner, W., MacGregor, D., Harvey, S. A., Delatycki, M. B., Amor, D. J., Crino, P. B., Bahlo, M. & Lockhart, P. J., 19 May 2015, In : Neurology. 84, 20, p. 2029-2032 4 p.

Research output: Contribution to journalArticleResearchpeer-review

"I'm scared of being like mum": The Experience of Adolescents Living in Families with Huntington Disease

Mand, C. M., Gillam, L., Duncan, R. E. & Delatycki, M. B., 29 Sep 2015, In : Journal of Huntington's Disease. 4, 3, p. 209-217 9 p.

Research output: Contribution to journalArticleResearchpeer-review

Metastatic phaeochromocytoma in a 23-year-old woman with an unclassified variant in the von Hippel Lindau disease gene: How can the pathogenicity of this variant be determined?

Russell, N., Delatycki, M. & Grossmann, M., 1 Jul 2015, In : Clinical Endocrinology. 83, 1, p. 15-19 5 p.

Research output: Contribution to journalArticleResearchpeer-review

Nasality in Friedreich ataxia

Poole, M. L., Wee, J. S., Folker, J. E., Corben, L. A., Delatycki, M. B. & Vogel, A. P., 1 Jan 2015, In : Clinical Linguistics and Phonetics. 29, 1, p. 46-58 13 p.

Research output: Contribution to journalArticleResearchpeer-review

Natural history of HFE simple heterozygosity for C282Y and H63D: A prospective 12-year study

Zaloumis, S. G., Allen, K. J., Bertalli, N. A., Turkovic, L., Delatycki, M. B., Nicoll, A. J., Mclaren, C. E., English, D. R., Hopper, J. L., Giles, G. G., Anderson, G. J., Olynyk, J. K., Powell, L. W., Gurrin, L. C., Bahlo, M., Vulpe, C. D., Forrest, S. M., Fletcher, A. R. & HealthIron Study Investigators, 1 Apr 2015, In : Journal of Gastroenterology and Hepatology. 30, 4, p. 719-725 7 p.

Research output: Contribution to journalArticleResearchpeer-review

Peripheral nerve ultrasound in pediatric Charcot-Marie-Tooth disease type 1A

Yiu, E. M., Brockley, C. R., Lee, K. J., Carroll, K., De Valle, K., Kennedy, R., Rao, P., Delatycki, M. B. & Ryan, M. M., 10 Feb 2015, In : Neurology. 84, 6, p. 569-574 6 p.

Research output: Contribution to journalArticleResearchpeer-review

Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls

Thompson, E. R., Gorringe, K. L., Rowley, S. M., Wong-Brown, M. W., McInerny, S., Li, N., Trainer, A. H., Devereux, L., Doyle, M. A., Li, J., Lupat, R., Delatycki, M. B., Lifepool Investigators, Mitchell, G. W. E., James, P. A., Scott, R. J. & Campbell, I. G., 19 Aug 2015, In : Breast Cancer Research. 17, 1, 11 p., 111.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
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Should HFE p.C282Y homozygotes with moderately elevated serum ferritin be treated? A randomised controlled trial comparing iron reduction with sham treatment (Mi-iron)

Ong, S. Y., Dolling, L., Dixon, J. L., Nicoll, A. J., Gurrin, L. C., Wolthuizen, M., Wood, E. M., Anderson, G. J., Ramm, G. A., Allen, K. J., Olynyk, J. K., Crawford, D., Kava, J., Ramm, L. E., Gow, P., Durrant, S., Powell, L. W. & Delatycki, M., 2015, In : BMJ Open. 5, 8, p. 1 - 7 7 p., e008938.

Research output: Contribution to journalArticleOther

"Suddenly having two positive people who are carriers is a whole new thing" - experiences of couples both identified as carriers of cystic fibrosis through a population-based carrier screening program in Australia

Ioannou, L., Delatycki, M., Massie, J. A., Hodgson, J. M. & Lewis, S., 2015, In : Journal of Genetic Counseling. 24, 6, p. 987 - 1000 14 p.

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