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

Genetics, insurance and professional practice: Survey of the Australasian clinical genetics workforce

Tiller, J., Keogh, L., Wake, S., Delatycki, M., Otlowski, M. & Lacaze, P., 23 Nov 2018, In : Frontiers in Public Health. 6, 7 p., 333.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
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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

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

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

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

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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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

"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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"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

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

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

2014

Attitudes and opinions of pregnant women who are not offered cystic fibrosis carrier screening

Ioannou, L., Massie, J. A., Lewis, S., Collins, V. R., McClaren, B. & Delatycki, M., 2014, In : European Journal of Human Genetics. 22, 7, p. 859 - 865 7 p.

Research output: Contribution to journalArticleResearchpeer-review

Beyond loss of frataxin: The complex molecular pathology of friedreich ataxia

Evans-Galea, M. V., Lockhart, P. J., Galea, C., Hannan, A. J. & Delatycki, M., 2014, In : Discovery Medicine. 17, 91, p. 25 - 35 11 p.

Research output: Contribution to journalArticleResearchpeer-review

Cell and gene therapy for friedreich ataxia: progress to date

Evans-Galea, M. V., Pebay, A., Dottori, M., Corben, L. A., Ong, S. H., Lockhart, P. J. & Delatycki, M., 2014, In : Human Gene Therapy. 25, 8, p. 684 - 693 10 p.

Research output: Contribution to journalArticleResearchpeer-review

Cerebello-cerebral connectivity deficits in Friedreich ataxia

Zalesky, A., Akhlaghi, H., Corben, L. A., Bradshaw, J. L., Delatycki, M., Storey, E., Georgiou-Karistianis, N. & Egan, G. F., 2014, In : Brain Structure and Function. 219, 3, p. 969 - 981 13 p.

Research output: Contribution to journalArticleResearchpeer-review

Cognitive deficits in Friedreich ataxia correlate with micro-structural changes in dentatorubral tract

Akhlaghi, H., Yu, J., Corben, L. A., Georgiou-Karistianis, N., Bradshaw, J. L., Storey, E., Delatycki, M. & Egan, G. F., 2014, In : Cerebellum. 13, 2, p. 187 - 198 12 p.

Research output: Contribution to journalArticleResearchpeer-review

HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia

Delatycki, M., Tai, G., Corben, L. A., Yiu, E. M., Evans-Galea, M. V., Stephenson, S. E. M., Gurrin, L. C., Allen, K. J., Lynch, D. R. & Lockhart, P. J., 2014, In : Movement Disorders. 29, 7, p. 940 - 943 4 p.

Research output: Contribution to journalArticleResearchpeer-review

Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis

Delatycki, M., Burke, J., Christie, L., Collins, F., Gabbett, M., George, P. M., Haan, E., Ioannou, L., Martin, N., McKenzie, F., O'Leary, P. C., Scoble-Williams, N., Turner, G. & Massie, J. A., 2014, In : Twin Research and Human Genetics. 17, 6, p. 578 - 583 6 p.

Research output: Contribution to journalArticleOther

Improving family communication after a new genetic diagnosis: A randomised controlled trial of a genetic counselling intervention

Hodgson, J. M., Metcalfe, S. A., Aitken, M. A., Donath, S. M., Gaff, C. L., Winship, I. M., Delatycki, M. B., Skene, L. L. C., McClaren, B. J., Paul, J. L. & Halliday, J. L., 14 Mar 2014, In : BMC Medical Genetics. 15, 1, 6 p., 33.

Research output: Contribution to journalArticleOtherpeer-review

Open Access
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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 othersSalce, 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

'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

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