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Martin Delatycki

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TOP 3
Natalie McLean; Ivan Macciocca; Martin B Delatycki; Rony E Duncan
Ethical dilemmas associated with genetic testing: which are most commonly seen and how are they managed?
Zornitza Stark; Nicole Cousens; Liane Ioannou; Sharon Lewis; John Massie; Belinda McClaren; Sylvia Metcalfe; Martin B Delatycki
Current practice and attitudes of Australian obstetricians toward population-based carrier screening for inherited conditions.
Nicole E Cousens; Clara L Gaff; Sylvia A Metcalfe; Martin B Delatycki
"He didn't say that thalassaemia might come up" - β-thalassaemia carriers' experiences and attitudes.

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All Publications

2013: Natalie McLean; Ivan Macciocca; Martin B Delatycki; Rony E Duncan
Ethical dilemmas associated with genetic testing: which are most commonly seen and how are they managed?
Genetics in medicine : official journal of the American College of Medical Genetics 2013;15(5):345-53.
2013: Zornitza Stark; Nicole Cousens; Liane Ioannou; Sharon Lewis; John Massie; Belinda McClaren; Sylvia Metcalfe; Martin B Delatycki
Current practice and attitudes of Australian obstetricians toward population-based carrier screening for inherited conditions.
Twin research and human genetics : the official journal of the International Society for Twin Studies 2013;16(2):601-7.
2013: Nicole E Cousens; Clara L Gaff; Sylvia A Metcalfe; Martin B Delatycki
"He didn't say that thalassaemia might come up" - β-thalassaemia carriers' experiences and attitudes.
Journal of community genetics 2013;4(2):223-32.
2013: Marina L Kennerson; Aditi Kidambi; Carolyn Ly; Rabia Chaudhry; David T Chuang; Martin B Delatycki; Alexander P Drew; Gary Rance; Monique M Ryan; Shih-Chia Tso; Eppie M Yiu; Stephan Zuchner; Garth A Nicholson
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.
Human molecular genetics 2013;22(7):1404-16.
2013: Kees van Gool; Richard Norman; Martin B Delatycki; Jane Hall; John Massie
Understanding the costs of care for cystic fibrosis: an analysis by age and health state.
Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2013;16(2):345-55.
2013: David R Lynch; Kristy Miller; Joanne Odenkirchen; Massimo Pandolfo; R Mark Payne; Susan Perlman; Subha V Raman; Jorg B Schulz; Robert Shaddy; Martin B Delatycki; Jennifer Farmer; Kenneth H Fischbeck; Lisa Hunegs; Paul Kantor; Petra Kaufmann
Common data elements for clinical research in Friedreich's ataxia.
Movement disorders : official journal of the Movement Disorder Society 2013;28(2):190-5.
2013: Lingli Li; Mark A Pook; Chiranjeevi Sandi; Martin B Delatycki; Panayiotis A Ioannou; Lucille Voullaire; Joseph P Sarsero
Pharmacological screening using an FXN-EGFP cellular genomic reporter assay for the therapy of Friedreich ataxia.
PloS one 2013;8(2):e55940.
2013: Günther Metz; Christian Rummey; J B Schulz; Jonathon M Cooper; Nicholas Coppard; Martin B Delatycki; Nicholas A Di Prospero; Alexandra Dürr; Paola Giunti; David R Lynch; Thomas Meier
Rating disease progression of Friedreich's ataxia by the International Cooperative Ataxia Rating Scale: analysis of a 603-patient database.
Brain : a journal of neurology 2013;136(Pt 1):259-68.
2013: Michelle Wolthuizen; MaryAnne Aitken; Katie J Allen; Jane Halliday; Sylvia A Metcalfe; Amy Nisselle; Martin B Delatycki
Why do people choose not to have screening for hemochromatosis?
Genetic testing and molecular biomarkers 2013;17(1):21-4.
2012: Kristin M Rosen; Adam Vogel; Louise A Corben; Joanne E Folker; Bruce E Murdoch; Martin B Delatycki
Longitudinal change in dysarthria associated with Friedreich ataxia: a potential clinical endpoint.
Journal of neurology 2012;259(11):2471-7.
2012: Sarah C Milne; Kwong Teo; Emma J Campagna; Andrew Churchyard; Louise A Corben; Martin B Delatycki; Terry P Haines
Retrospective study of the effects of inpatient rehabilitation on improving and maintaining functional independence in people with Friedreich ataxia.
Archives of physical medicine and rehabilitation 2012;93(10):1860-3.
2012: Cara Mand; Lynn Gillam; Martin B Delatycki; Rony E Duncan
Predictive genetic testing in minors for late-onset conditions: a chronological and analytical review of the ethical arguments.
Journal of medical ethics 2012;38(9):519-24.
2012: Yuanyuan Wang; Anita E Wluka; Katrina J Allen; Nadine A Bertalli; Martin B Delatycki; Dallas R English; Graham G Giles; Stephen Graves; Lyle C Gurrin; John L Hopper; Nicholas Osborne; Julie A Simpson; Flavia M Cicuttini
HFE C282Y homozygosity is associated with an increased risk of total hip replacement for osteoarthritis.
Seminars in arthritis and rheumatism 2012;41(6):872-8.
2012: Martin B Delatycki; Lyle C Gurrin; Chriselle Hickerton; Paul J Lockhart; Ivan Macciocca; MaryAnne Aitken; Katrina J Allen; Lyndal Bond; Veronica Collins; Joanna Craven; Sarah E M Stephenson; M Kaye Trembath; Elizabeth Varley; Gabrielle R Wilson; Michelle Wolthuizen; Sylvia A Metcalfe
ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible.
European journal of human genetics : EJHG 2012;20(5):505-9.
2012: Martin B Delatycki
The ethics of screening for disease.
Pathology 2012;44(2):63-8.
2011: Matthew Kelly; Roger E Peverill; Richard D Bagnall; Louise Corben; Martin B Delatycki; Lesley Donelan; Christopher Semsarian
A polymorphic miR-155 binding site in AGTR1 is associated with cardiac hypertrophy in Friedreich ataxia.
Journal of molecular and cellular cardiology 2011;51(5):848-54.
2011: Nadine A Bertalli; Clare Constantine; Martin B Delatycki; Dallas R English; Graham G Giles; Lyle C Gurrin; John L Hopper; Christine E McLaren; John K Olynyk; Nicholas Osborne; Lawrie W Powell; Lidija Turkovic; Katrina J Allen; Gregory J Anderson
A comparison of self-reported and record-linked blood donation history in an Australian cohort.
Transfusion 2011;51(10):2189-98.
2011: Jun Liu; Anna Michalska; Joseph P Sarsero; Paul J Verma; Robert Williamson; Duncan Crombie; Martin B Delatycki; Mirella Dottori; MARGUERITE EVANS-GALEA; Jessie Leung; Alice Pébay
Generation of induced pluripotent stem cell lines from Friedreich ataxia patients.
Stem cell reviews 2011;7(3):703-13.
2011: Kristin M Rosen; Adam Vogel; Louise M Cahill; Martin B Delatycki; Joanne E Folker; Bruce E Murdoch; Louise A Corben
Spectral measures of the effects of Friedreich's ataxia on speech.
International journal of speech-language pathology 2011;13(4):329-34.
2011: Joanne E Folker; Bruce E Murdoch; Kristin M Rosen; Louise M Cahill; Louise A Corben; Martin B Delatycki; Adam Vogel
Articulatory kinematics in the dysarthria associated with Friedreich's ataxia.
Motor control 2011;15(3):376-89.
2011: Philip M Mottram; Louise Corben; Martin B Delatycki; Lesley Donelan; John S Gelman; Roger E Peverill
Early changes in left ventricular long-axis function in Friedreich ataxia: relation with the FXN gene mutation and cardiac structural change.
Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography 2011;24(7):782-9.
2011: Louise A Corben; H Akhlaghi; Nellie Georgiou-Karistianis; John L Bradshaw; Gary F Egan; Elsdon Storey; Andrew Churchyard; Martin B Delatycki
Impaired inhibition of prepotent motor tendencies in Friedreich ataxia demonstrated by the Simon interference task.
Brain and cognition 2011;76(1):140-5.
2011: Pleasantine Mill; Paul J Lockhart; Elizabeth Fitzpatrick; Hayley S Mountford; Emma A Hall; Martin A M Reijns; Margaret Keighren; Melanie Bahlo; Catherine J Bromhead; Peter S Budd; Salim Aftimos; Martin B Delatycki; Ravi Savarirayan; Ian J Jackson; David J Amor
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.
American journal of human genetics 2011;88(4):508-15.
2011: Kristin M Rosen; Joanne E Folker; Bruce E Murdoch; Adam Vogel; Louise M Cahill; Martin B Delatycki; Louise A Corben
Measures of spectral change and their application to habitual, slow, and clear speaking modes.
International journal of speech-language pathology 2011;13(2):165-73.
2011: Timothy P Holloway; Simone M Rowley; Martin B Delatycki; Joseph P Sarsero
Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia.
BioTechniques 2011;50(3):182-6.
2011: Hamed Akhlaghi; Louise Corben; Nellie Georgiou-Karistianis; John Bradshaw; Elsdon Storey; Martin B Delatycki; Gary F Egan
Superior cerebellar peduncle atrophy in Friedreich's ataxia correlates with disease symptoms.
Cerebellum (London, England) 2011;10(1):81-7.
2011: David J Coman; Ian M Hayes; Margaret Sahhar; James Wraith; Veronica Collins; Martin B Delatycki
Enzyme replacement therapy and extended newborn screening for mucopolysaccharidoses: opinions of treating physicians.
JIMD reports 2011;1():9-15.
2011: Felicity Klopper; Martin B Delatycki; Louise A Corben; John L Bradshaw; Gary Rance; Nellie Georgiou-Karistianis
The test of everyday attention reveals significant sustained volitional attention and working memory deficits in friedreich ataxia.
Journal of the International Neuropsychological Society : JINS 2011;17(1):196-200.
2011: Joanne E Folker; Bruce E Murdoch; Louise M Cahill; Martin B Delatycki; Louise A Corben; Adam Vogel
Kinematic analysis of lingual movements during consonant productions in dysarthric speakers with Friedreich's ataxia: A case-by-case analysis.
Clinical linguistics & phonetics 2011;25(1):66-79.
2010: Gary Rance; Louise Corben; E Du Bourg; A King; Martin B Delatycki
Successful treatment of auditory perceptual disorder in individuals with Friedreich ataxia.
Neuroscience 2010;171(2):552-5.
2010: R John Massie; Martin B Delatycki
Reducing the burden of inherited disease: the Human Variome Project.
The Medical journal of Australia 2010;193(7):430-1.
2010: Joanne E Folker; Bruce E Murdoch; Louise M Cahill; Kristin M Rosen; Martin B Delatycki; Louise A Corben; Adam Vogel
Differentiating impairment levels in temporal versus spatial aspects of linguopalatal contacts in Friedreich's ataxia.
Motor control 2010;14(4):490-508.
2010: Nicole E Cousens; Clara L Gaff; Sylvia A Metcalfe; Martin B Delatycki
Carrier screening for beta-thalassaemia: a review of international practice.
European journal of human genetics : EJHG 2010;18(10):1077-83.
2010: Katrina J Allen; Nadine A Bertalli; Nicholas Osborne; Clare Constantine; Martin B Delatycki; Amy E Nisselle; Amanda J Nicoll; Dorota M Gertig; Christine E McLaren; Graham G Giles; John L Hopper; Gregory J Anderson; John K Olynyk; Lawrie W Powell; Lyle C Gurrin
HFE Cys282Tyr homozygotes with serum ferritin concentrations below 1000 microg/L are at low risk of hemochromatosis.
Hepatology (Baltimore, Md.) 2010;52(3):925-33.
2010: Darren R Hocking; Joanne Fielding; Louise A Corben; Phillip D Cremer; Lynette Millist; Owen B White; Martin B Delatycki
Ocular motor fixation deficits in Friedreich ataxia.
Cerebellum (London, England) 2010;9(3):411-8.
2010: Lucy J Modra; R John Massie; Martin B Delatycki
Ethical considerations in choosing a model for population-based cystic fibrosis carrier screening.
The Medical journal of Australia 2010;193(3):157-60.
2010: M Kaye Trembath; Zoë A Horton; Lynette Tippett; Virginia Hogg; Veronica R Collins; Andrew Churchyard; Dennis Velakoulis; Richard Roxburgh; Martin B Delatycki
A retrospective study of the impact of lifestyle on age at onset of Huntington disease.
Movement disorders : official journal of the Movement Disorder Society 2010;25(10):1444-50.
2010: Laura E Forrest; Martin B Delatycki; Lisette Curnow; Loane Skene; MaryAnne Aitken
Genetic health professionals and the communication of genetic information in families: Practice during and after a genetic consultation.
American journal of medical genetics. Part A 2010;152A(6):1458-66.
2010: Damien L Bruno; Britt-Marie Anderlid; Anna Lindstrand; Conny van Ravenswaaij-Arts; Devika Ganesamoorthy; Johanna Lundin; Christa Lese Martin; Jessica Douglas; Catherine Nowak; Margaret P Adam; R Frank Kooy; Nathalie Van der Aa; Edwin Reyniers; Geert Vandeweyer; Irene Stolte-Dijkstra; Trijnie Dijkhuizen; Alison Yeung; Martin B Delatycki; Birgit Borgström; Lena Thelin; Carlos Cardoso; Bregje van Bon; Rolph Pfundt; Bert B A de Vries; Anders Wallin; David J Amor; Paul A James; Howard R Slater; Jacqueline Schoumans
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.
Journal of medical genetics 2010;47(5):299-311.
2010: Louise A Corben; Martin B Delatycki; John L Bradshaw; Malcolm K Horne; Michael C Fahey; Andrew Churchyard; Nellie Georgiou-Karistianis
Impairment in motor reprogramming in Friedreich ataxia reflecting possible cerebellar dysfunction.
Journal of neurology 2010;257(5):782-91.
2010: Gabrielle R Wilson; Marcus L-J Sim; Kate M Brody; Juliet M Taylor; Robert I McLachlan; Moira K O'Bryan; Martin B Delatycki; Paul J Lockhart
Molecular analysis of the PArkin co-regulated gene and association with male infertility.
Fertility and sterility 2010;93(7):2262-8.
2010: Gabrielle R Wilson; Hong X Wang; Gary F Egan; Philip J Robinson; Martin B Delatycki; Moira K O'Bryan; Paul J Lockhart
Deletion of the Parkin co-regulated gene causes defects in ependymal ciliary motility and hydrocephalus in the quakingviable mutant mouse.
Human molecular genetics 2010;19(8):1593-602.
2010: Nicholas Osborne; Lyle C Gurrin; Katrina J Allen; Clare C Constantine; Martin B Delatycki; Christine E McLaren; Dorota M Gertig; Gregory J Anderson; Melissa C Southey; John K Olynyk; Lawrie W Powell; John L Hopper; Graham G Giles; Dallas R English
HFE C282Y homozygotes are at increased risk of breast and colorectal cancer.
Hepatology (Baltimore, Md.) 2010;51(4):1311-8.
2010: Louise A Corben; G Tai; C Wilson; V Collins; Andrew Churchyard; Martin B Delatycki
A comparison of three measures of upper limb function in Friedreich ataxia.
Journal of neurology 2010;257(4):518-23.
2010: Rony E Duncan; Lynn Gillam; Julian Savulescu; Robert Williamson; John G Rogers; Martin B Delatycki
The challenge of developmentally appropriate care: predictive genetic testing in young people for familial adenomatous polyposis.
Familial cancer 2010;9(1):27-35.
2010: L Ioannou; J Massie; Veronica Collins; B McClaren; Martin B Delatycki
Population-based genetic screening for cystic fibrosis: attitudes and outcomes.
Public health genomics 2010;13(7-8):449-56.
2010: Gary Rance; Louise Corben; Elizabeth Barker; Peter Carew; Donella Chisari; Meghan Rogers; Richard C Dowell; Saiful Jamaluddin; Rochelle Bryson; Martin B Delatycki
Auditory perception in individuals with Friedreich's ataxia.
Audiology & neuro-otology 2010;15(4):229-40.
2010: Joanne Fielding; Louise Corben; Phillip Cremer; Lynette Millist; Owen White; Martin B Delatycki
Disruption to higher order processes in Friedreich ataxia.
Neuropsychologia 2010;48(1):235-42.
2009: C Mand; Rony E Duncan; Lynn Gillam; V Collins; Martin B Delatycki
Genetic selection for deafness: the views of hearing children of deaf adults.
Journal of medical ethics 2009;35(12):722-8.
2009: John Massie; Vicki Petrou; Robyn Forbes; Lisette Curnow; Liane Ioannou; Desiree Dusart; Agnes Bankier; Martin B Delatycki
Population-based carrier screening for cystic fibrosis in Victoria: the first three years experience.
The Australian & New Zealand journal of obstetrics & gynaecology 2009;49(5):484-9.
2009: Clare Constantine; Greg J Anderson; Chris D Vulpe; Christine E McLaren; Melanie Bahlo; Heng Lin Yeap; Dorota M Gertig; Nicholas Osborne; Nadine A Bertalli; Kenneth B Beckman; Victoria Chen; Pavel Matak; Andrew T McKie; Martin B Delatycki; John K Olynyk; Dallas R English; Melissa C Southey; Graham G Giles; John L Hopper; Katrina J Allen; Lyle C Gurrin
A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis.
British journal of haematology 2009;147(1):140-9.
2009: Gabrielle R Wilson; Jacqueline T Tan; Kate M Brody; Juliet M Taylor; Martin B Delatycki; Paul J Lockhart
Expression and localization of the Parkin co-regulated gene in mouse CNS suggests a role in ependymal cilia function.
Neuroscience letters 2009;460(1):97-101.
2009: Lyle C Gurrin; Nadine A Bertalli; Gregory W Dalton; Nicholas Osborne; Clare Constantine; Christine E McLaren; Dallas R English; Dorota M Gertig; Martin B Delatycki; Amanda J Nicoll; Melissa C Southey; John L Hopper; Graham G Giles; Gregory J Anderson; John K Olynyk; Lawrie W Powell; Katrina J Allen
HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity.
Hepatology (Baltimore, Md.) 2009;50(1):94-101.
2009: Devika Ganesamoorthy; Damien L Bruno; Jacqueline Schoumans; Elsdon Storey; Martin B Delatycki; Danqing Zhu; Morgan K Wei; Garth A Nicholson; R J McKinlay Gardner; Howard R Slater
Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15.
Clinical chemistry 2009;55(7):1415-8.
2009: Juliet M Taylor; Ruey-Meei Wu; Matthew J Farrer; Martin B Delatycki; Paul J Lockhart
Analysis of PArkin Co-Regulated Gene in a Taiwanese-ethnic Chinese cohort with early-onset Parkinson's disease.
Parkinsonism & related disorders 2009;15(6):417-21.
2009: Martin B Delatycki; Richard J Leventer
Listen carefully: LIS1 and DCX MLPA in lissencephaly and subcortical band heterotopia.
European journal of human genetics : EJHG 2009;17(6):701-2.
2009: Martin B Delatycki
Evaluating the progression of Friedreich ataxia and its treatment.
Journal of neurology 2009;256 Suppl 1():36-41.
2009: D L Bruno; D Ganesamoorthy; J Schoumans; Agnes Bankier; D Coman; Martin B Delatycki; R J McKinlay Gardner; M Hunter; P A James; Peter Kannu; George McGillivray; N Pachter; H Peters; C Rieubland; Ravi Savarirayan; Ingrid E Scheffer; Leslie J Sheffield; T Tan; Susan M White; A Yeung; Z Bowman; C Ngo; K W Choy; V Cacheux; L Wong; David J Amor; Howard R Slater
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.
Journal of medical genetics 2009;46(2):123-31.
2009: Juliet M Taylor; Ruey-Meei Wu; Chin-Hsien Lin; Martin B Delatycki; Paul J Lockhart
Lack of evidence for association of a parkin promoter polymorphism with early-onset Parkinson's disease in a Chinese population.
Parkinsonism & related disorders 2009;15(2):149-52.
2008: Laura E Forrest; Lisette Curnow; Martin B Delatycki; Loane Skene; MaryAnne Aitken
Health first, genetics second: exploring families' experiences of communicating genetic information.
European journal of human genetics : EJHG 2008;16(11):1329-35.
2008: Martin B Delatycki
Population screening for reproductive risk for single gene disorders in Australia: now and the future.
Twin research and human genetics : the official journal of the International Society for Twin Studies 2008;11(4):422-30.
2008: Gary Rance; Rosanne Fava; Heath Baldock; April Chong; Elizabeth Barker; Louise Corben; Martin B Delatycki
Speech perception ability in individuals with Friedreich ataxia.
Brain : a journal of neurology 2008;131(Pt 8):2002-12.
2008: David J Coman; Ian M Hayes; Veronica Collins; Margaret Sahhar; James Wraith; Martin B Delatycki
Enzyme replacement therapy for mucopolysaccharidoses: opinions of patients and families.
The Journal of pediatrics 2008;152(5):723-7.
2008: Michael C Fahey; Phillip D Cremer; Swee T Aw; Lynette Millist; Michael J Todd; Owen B White; Michael Halmagyi; Louise A Corben; Veronica Collins; Andrew Churchyard; Kim Tan; Lionel Kowal; Martin B Delatycki
Vestibular, saccadic and fixation abnormalities in genetically confirmed Friedreich ataxia.
Brain : a journal of neurology 2008;131(Pt 4):1035-45.
2008: Belinda J McClaren; Martin B Delatycki; Veronica Collins; Sylvia A Metcalfe; MaryAnne Aitken
'It is not in my world': an exploration of attitudes and influences associated with cystic fibrosis carrier screening.
European journal of human genetics : EJHG 2008;16(4):435-44.
2008: Kate M Brody; Juliet M Taylor; Gabrielle R Wilson; Martin B Delatycki; Paul J Lockhart
Regional and cellular localisation of Parkin co-regulated gene in developing and adult mouse brain.
Brain research 2008;1201():177-86.
2008: Katrina J Allen; AE Nisselle; Veronica R Collins; Robert Williamson; Martin B Delatycki
Asymptomatic individuals at genetic risk of haemochromatosis take appropriate steps to prevent disease related to iron overload.
Liver international : official journal of the International Association for the Study of the Liver 2008;28(3):363-9.
2008: Rony E Duncan; Lynn Gillam; Julian Savulescu; Robert Williamson; John G Rogers; Martin B Delatycki
"You're one of us now": young people describe their experiences of predictive genetic testing for Huntington disease (HD) and familial adenomatous polyposis (FAP).
American journal of medical genetics. Part C, Seminars in medical genetics 2008;148C(1):47-55.
2008: Muralikrishnan Radhakrishnan; Kees van Gool; Jane Hall; Martin B Delatycki; John Massie
Economic evaluation of cystic fibrosis screening: a review of the literature.
Health policy (Amsterdam, Netherlands) 2008;85(2):133-47.
2008: Katrina J Allen; Lyle C Gurrin; Clare Constantine; Nicholas Osborne; Martin B Delatycki; Amanda J Nicoll; Christine E McLaren; Melanie Bahlo; AE Nisselle; Christopher D Vulpe; Gregory J Anderson; Melissa C Southey; Graham G Giles; Dallas R English; John L Hopper; John K Olynyk; Lawrie W Powell; Dorota M Gertig
Iron-overload-related disease in HFE hereditary hemochromatosis.
The New England journal of medicine 2008;358(3):221-30.
2007: John Massie; Robin Forbes; Desiree Dusart; Agnes Bankier; Martin B Delatycki
Community-wide screening for cystic fibrosis carriers could replace newborn screening for the diagnosis of cystic fibrosis.
Journal of paediatrics and child health 2007;43(11):721-3.
2007: Sylvia A Metcalfe; Kristine Barlow-Stewart; Martin B Delatycki; Jon Emery
Population genetic screening.
Australian family physician 2007;36(10):794-800.
2007: C L Wilson; Michael C Fahey; Louise A Corben; Veronica R Collins; Andrew Churchyard; P J Lamont; Martin B Delatycki
Quality of life in Friedreich ataxia: what clinical, social and demographic factors are important?
European journal of neurology : the official journal of the European Federation of Neurological Societies 2007;14(9):1040-7.
2007: Rony E Duncan; Lynn Gillam; Julian Savulescu; Robert Williamson; John G Rogers; Martin B Delatycki
"Holding your breath": interviews with young people who have undergone predictive genetic testing for Huntington disease.
American journal of medical genetics. Part A 2007;143A(17):1984-9.
2007: Ngolela Esther Babady; Nadège Carelle; Robert D Wells; Tracey A Rouault; Michio Hirano; David R Lynch; Martin B Delatycki; Robert B Wilson; Grazia Isaya; Hélène Puccio
Advancements in the pathophysiology of Friedreich's Ataxia and new prospects for treatments.
Molecular genetics and metabolism 2007;92(1-2):23-35.
2007: Juliet M Taylor; Yun Ju C Song; Yue Huang; Matthew J Farrer; Martin B Delatycki; Linda Truong; Paul J Lockhart
Parkin Co-Regulated Gene (PACRG) is regulated by the ubiquitin-proteasomal system and is present in the pathological features of Parkinsonian diseases.
Neurobiology of disease 2007;27(2):238-47.
2007: Laura E Forrest; Martin B Delatycki; Loane Skene; MaryAnne Aitken
Communicating genetic information in families--a review of guidelines and position papers.
European journal of human genetics : EJHG 2007;15(6):612-8.
2007: I M Hayes; Veronica Collins; Margaret Sahhar; James Wraith; Martin B Delatycki
Newborn screening for mucopolysaccharidoses: opinions of patients and their families.
Clinical genetics 2007;71(5):446-50.
2007: Michael C Fahey; Louise A Corben; Veronica Collins; Andrew Churchyard; Martin B Delatycki
How is disease progress in Friedreich's ataxia best measured? A study of four rating scales.
Journal of neurology, neurosurgery, and psychiatry 2007;78(4):411-3.
2007: Michael C Fahey; Louise A Corben; Veronica Collins; Andrew Churchyard; Martin B Delatycki
The 25-foot walk velocity accurately measures real world ambulation in Friedreich ataxia.
Neurology 2007;68(9):705-6.
2007: Fiona Noble; Andrew J Kornberg; James E Elder; Martin B Delatycki
Retrospective analysis of patients attending a neurofibromatosis type 1 clinic.
Journal of paediatrics and child health 2007;43(1-2):55-9.
2006: Rony E Duncan; Bennett Foddy; Martin B Delatycki
Refusing to provide a prenatal test: can it ever be ethical?
BMJ (Clinical research ed.) 2006;333(7577):1066-8.
2006: M Kaye Trembath; Roslyn J Tassicker; Veronica R Collins; Sue Mansie; Leslie J Sheffield; Martin B Delatycki
Fifteen years of experience in predictive testing for Huntington disease at a single testing center in Victoria, Australia.
Genetics in medicine : official journal of the American College of Medical Genetics 2006;8(11):673-80.
2006: Louise A Corben; Nellie Georgiou-Karistianis; Michael C Fahey; Elsdon Storey; Andrew Churchyard; Malcolm Horne; John L Bradshaw; Martin B Delatycki
Towards an understanding of cognitive function in Friedreich ataxia.
Brain research bulletin 2006;70(3):197-202.
2006: Alexandra A Gason; Martin B Delatycki; Sylvia A Metcalfe; MaryAnne Aitken
It's "back to school" for genetic screening.
European journal of human genetics : EJHG 2006;14(4):384-9.
2006: Martin B Delatycki; Katrina J Allen
In response to Cadet et al.
Journal of medical genetics 2006;43(2):e3.
2006: AE Nisselle; Veronica R Collins; Alexandra A Gason; Anna Flouris; Martin B Delatycki; Katrina J Allen; Mary Anne Aitken; Sylvia A Metcalfe
Educational outcomes of a workplace screening program for genetic susceptibility to hemochromatosis.
Clinical genetics 2006;69(2):163-70.
2006: Rony E Duncan; Martin B Delatycki
Predictive genetic testing in young people for adult-onset conditions: where is the empirical evidence?
Clinical genetics 2006;69(1):8-16; discussion 17-20.
2005: J Fraser; Alexandra A Gason; James Wraith; Martin B Delatycki
Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study.
Archives of disease in childhood 2005;90(12):1239-42.
2005: Michael C Fahey; Melanie A Knight; JH Shaw; R J McKinlay Gardner; Desirée Du Sart; P J Lockhart; Martin B Delatycki; P C Gates; Elsdon Storey
Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene.
Journal of neurology, neurosurgery, and psychiatry 2005;76(12):1720-2.
2005: R John Massie; Martin B Delatycki; Agnes Bankier
Screening couples for cystic fibrosis carrier status: why are we waiting?
The Medical journal of Australia 2005;183(10):501-2.
2005: Alexandra A Gason; Sylvia A Metcalfe; Martin B Delatycki; Vicki Petrou; Edith Sheffield; Agnes Bankier; MaryAnne Aitken
Tay Sachs disease carrier screening in schools: educational alternatives and cheekbrush sampling.
Genetics in medicine : official journal of the American College of Medical Genetics 2005;7(9):626-32.
2005: Rony E Duncan; Martin B Delatycki; S J Collins; A Boyd; Colin L Masters; Julian Savulescu
Ethical considerations in presymptomatic testing for variant CJD.
Journal of medical ethics 2005;31(11):625-30.
2005: Martin B Delatycki; Katrina J Allen; AE Nisselle; Veronica Collins; Sylvia Metcalfe; Desirée Du Sart; Jane Halliday; Mary Anne Aitken; I Macciocca; Victoria Hill; A Wakefield; A Ritchie; Alexandra A Gason; A J Nicoll; Lawrie W Powell; Robert Williamson
Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis.
Lancet 2005;366(9482):314-6.
2005: Rony E Duncan; Julian Savulescu; Lynn Gillam; Robert Williamson; Martin B Delatycki
An international survey of predictive genetic testing in children for adult onset conditions.
Genetics in medicine : official journal of the American College of Medical Genetics 2005;7(6):390-6.
2005: Martin B Delatycki; Panayiotis A Ioannou; Andrew Churchyard
Friedreich ataxia: from genes to therapies?
The Medical journal of Australia 2005;182(9):439.
2005: Amy C Cohn; Katya Kotschet; Alistair Veitch; Martin B Delatycki; Mark F McCombe
Novel ophthalmological features in hereditary endotheliopathy with retinopathy, nephropathy and stroke syndrome.
Clinical & experimental ophthalmology 2005;33(2):181-3.
2005: Martin B Delatycki
A de novo, apparently balanced reciprocal translocation in a child with developmental delay whose mother was being treated with low-dose methotrexate at the time of conception.
Birth defects research. Part A, Clinical and molecular teratology 2005;73(4):253-4.
2005: Alexandra A Gason; Mary Anne Aitken; Sylvia A Metcalfe; Katrina J Allen; Martin B Delatycki
Genetic susceptibility screening in schools: attitudes of the school community towards hereditary haemochromatosis.
Clinical genetics 2005;67(2):166-74.
2005: Martin B Delatycki; Annette Holian; Louise A Corben; H Barry Rawicki; Christine Blackburn; Brian Hoare; Melanie Toy; Andrew Churchyard
Surgery for equinovarus deformity in Friedreich's ataxia improves mobility and independence.
Clinical orthopaedics and related research 2005;(430):138-41.
2004: Rajesh Sharma; Irene De Biase; Mariluz Gómez; Martin B Delatycki; Tetsuo Ashizawa; Sanjay I Bidichandani
Friedreich ataxia in carriers of unstable borderline GAA triplet-repeat alleles.
Annals of neurology 2004;56(6):898-901.
2004: Kristine Freude; Kirsten Hoffmann; Lars Riff Jensen; Martin B Delatycki; Vincent des Portes; Bettina Moser; Ben Hamel; Hans van Bokhoven; Claude Moraine; Jean-Pierre Fryns; Jamel Chelly; Jozef Gécz; Steffen Lenzner; Vera Kalscheuer; Hans-Hilger Ropers
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation.
American journal of human genetics 2004;75(2):305-9.
2004: Alexandra A Gason; MaryAnne Aitken; Martin B Delatycki; Edith Sheffield; Sylvia A Metcalfe
Multimedia messages in genetics: design, development, and evaluation of a computer-based instructional resource for secondary school students in a Tay Sachs disease carrier screening program.
Genetics in medicine : official journal of the American College of Medical Genetics 2004;6(4):226-31.
2004: Susan M White; E M Thompson; A Kidd; Ravi Savarirayan; A Turner; David J Amor; Martin B Delatycki; Michael C Fahey; A Baxendale; S White; E Haan; K Gibson; Jane L Halliday; Agnes Bankier
Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome.
American journal of medical genetics. Part A 2004;127A(2):118-27.
2004: Martin B Delatycki; Katrina J Allen; P Gow; Julie MacFarlane; Christopher C Radomski; Jay Thompson; Michael R Hayden; Y Paul Goldberg; Mark E Samuels
A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis.
Clinical genetics 2004;65(5):378-83.
2004: AE Nisselle; Martin B Delatycki; Veronica Collins; Sylvia Metcalfe; Mary Anne Aitken; Desirée Du Sart; Jane Halliday; I Macciocca; A Wakefield; Victoria Hill; Alexandra A Gason; B Warner; V Calabro; Robert Williamson; Katrina J Allen
Implementation of HaemScreen, a workplace-based genetic screening program for hemochromatosis.
Clinical genetics 2004;65(5):358-67.
2004: Gillian Turner; Karen M Lower; S M White; Martin B Delatycki; Anne K Lampe; M Wright; J Clayton Smith; Bronwyn Kerr; Susan Schelley; H Eugene Hoyme; Bert B A de Vries; Tjitske Kleefstra; Markus Grompe; B Cox; Jozef Gecz; Michael Partington
The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.
Clinical genetics 2004;65(3):226-32.
2004: Max Voncken; Panos Ioannou; Martin B Delatycki
Friedreich ataxia-update on pathogenesis and possible therapies.
Neurogenetics 2004;5(1):1-8.
2004: Martin B Delatycki; Colin Thomson
Should third party consent to research be mandated? Should there be a right for third parties to have data about them withdrawn from a research project? Two perspectives.
Monash bioethics review 2004;23(1):S75-86.
2004: Laura M Pollard; Rajesh Sharma; Mariluz Gómez; Sonali Shah; Martin B Delatycki; Luigi Pianese; Antonella Monticelli; Bronya J B Keats; Sanjay I Bidichandani
Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia.
Nucleic acids research 2004;32(19):5962-71.
2004: Martin B Delatycki; Lawrie W Powell; Katrina J Allen
Hereditary hemochromatosis genetic testing of at-risk children: what is the appropriate age?
Genetic testing 2004;8(2):98-103.
2004: Martin B Delatycki; Leslie J Sheffield; S Wake; J Cohen
Screening approach for Fragile X syndrome.
Prenatal diagnosis 2004;24(1):67-8; author reply 68-9.
2003: Michelle G de Silva; K Elliott; Hans-Henrik M Dahl; E Fitzpatrick; SA Wilcox; Martin B Delatycki; Robert Williamson; D Efron; M Lynch; S Forrest
Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype.
Journal of medical genetics 2003;40(10):733-40.
2003: Martin B Delatycki; A Danks; Andrew Churchyard; X-P Zhou; Charis Eng
De novo germline PTEN mutation in a man with Lhermitte-Duclos disease which arose on the paternal chromosome and was transmitted to his child with polydactyly and Wormian bones.
Journal of medical genetics 2003;40(8):e92.
2003: Alexandra A Gason; Edith Sheffield; Agnes Bankier; Mary Anne Aitken; Sylvia Metcalfe; Kristine Barlow-Stewart; Martin B Delatycki
Evaluation of a Tay-Sachs disease screening program.
Clinical genetics 2003;63(5):386-92.
2003: Linda S Weaving; Sarah L Williamson; Bruce Bennetts; Mark Davis; Carolyn Ellaway; Helen Leonard; Meow-Keong Thong; Martin B Delatycki; Elizabeth M Thompson; Nigel Laing; John Christodoulou
Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.
American journal of medical genetics. Part A 2003;118A(2):103-14.
2003: Ferdinando Squitieri; Cinzia Gellera; Milena Cannella; Caterina Mariotti; giuliana cislaghi; David C Rubinsztein; Elisabeth W Almqvist; David Turner; Anne-Catherine Bachoud-Lévi; Sheila A Simpson; Martin B Delatycki; Vittorio Maglione; Michael R Hayden; Stefano Di Donato
Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course.
Brain : a journal of neurology 2003;126(Pt 4):946-55.
2003: Ravi Savarirayan; Susan M White; Frances R Goodman; John M Graham; Martin B Delatycki; Ralph S Lachman; David L Rimoin; David B Everman; Matthew L Warman
Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families.
American journal of medical genetics. Part A 2003;117A(2):136-42.
2003: Roslyn J Tassicker; Julian Savulescu; Loane Skene; Pam Marshall; Lara Fitzgerald; Martin B Delatycki
Prenatal diagnosis requests for Huntington's disease when the father is at risk and does not want to know his genetic status: clinical, legal, and ethical viewpoints.
BMJ (Clinical research ed.) 2003;326(7384):331-3.
2003: D Efron; Martin B Delatycki; Michelle G de Silva; A Langbein; W Slaghuis; A Larson; Hans-Henrik M Dahl; Susan M Forrest
A novel pericentric inversion of chromosome 3 cosegregates with a developmental-behavioural phenotype.
Journal of medical genetics 2003;40(2):E15.
2002: Karen M Lower; Gillian Turner; Bronwyn A Kerr; Katherine D Mathews; Marie A Shaw; Agi K Gedeon; Susan Schelley; H Eugene Hoyme; Susan M White; Martin B Delatycki; Anne K Lampe; Jill Clayton-Smith; Helen Stewart; Conny M A van Ravenswaay; Bert B A de Vries; Barbara Cox; Markus Grompe; Shelley Ross; Paul Thomas; John C Mulley; Jozef Gécz
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.
Nature genetics 2002;32(4):661-5.
2002: J Fraser; James Wraith; Martin B Delatycki
Sleep disturbance in mucopolysaccharidosis type III (Sanfilippo syndrome): a survey of managing clinicians.
Clinical genetics 2002;62(5):418-21.
2002: K Sitte; Faten Zaibak; Martin B Delatycki; Panayiotis A Ioannou
Normal levels of soluble transferrin receptor in Friedreich ataxia.
Clinical genetics 2002;62(3):250-1.
2002: Katrina J Allen; B Warner; Martin B Delatycki
Clinical haemochromatosis in HFE mutation carriers.
Lancet 2002;360(9330):412-3; author reply 413-4.
2002: Jennifer Newstead; Martin B Delatycki; Mary Anne Aitken
Haemochromatosis and family testing. What should a GP do?
Australian family physician 2002;31(6):533-7.
2002: Martin B Delatycki; Katrina Allen; Robert Williamson
Insurance agreement to facilitate genetic testing.
Lancet 2002;359(9315):1433.
2001: David J Amor; J E Craig; Martin B Delatycki; Dinah S Reddihough
Genetic factors in athetoid cerebral palsy.
Journal of child neurology 2001;16(11):793-7.
2001: Martin B Delatycki; Roslyn J Tassicker
Adult onset neurological disorders. Predictive genetic testing.
Australian family physician 2001;30(10):948-52.
2001: David J Amor; Martin B Delatycki; R J McKinlay Gardner; Elsdon Storey
New variant of familial cerebellar ataxia with hypergonadotropic hypogonadism and sensorineural deafness.
American journal of medical genetics 2001;99(1):29-33.
2000: Martin B Delatycki; Robert Williamson; Susan M Forrest
Friedreich ataxia: an overview.
Journal of medical genetics 2000;37(1):1-8.
1999: Martin B Delatycki; DB Paris; R J McKinlay Gardner; Garth A Nicholson; Najah T Nassif; Elsdon Storey; J C MacMillan; Veronica Collins; Robert Williamson; Susan M Forrest
Clinical and genetic study of Friedreich ataxia in an Australian population.
American journal of medical genetics 1999;87(2):168-74.
1999: David J Amor; Martin B Delatycki; M Susman; E Casey; T Nash; Garry L Warne; John Hutson
46,XX/46,XY at amniocentesis in a fetus with true hermaphroditism.
Journal of medical genetics 1999;36(11):866-9.
1999: Martin B Delatycki; M Knight; M Koenig; M Cossée; Robert Williamson; Susan M Forrest
G130V, a common FRDA point mutation, appears to have arisen from a common founder.
Human genetics 1999;105(4):343-6.
1999: Martin B Delatycki; James Camakaris; H Brooks; T Evans-Whipp; David R Thorburn; Robert Williamson; Susan M Forrest
Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxia.
Annals of neurology 1999;45(5):673-5.
1999: Martin B Delatycki; Lucille Voullaire; D Francis; V Petrovic; A Robertson; L M Webber; Howard R Slater
Directly inherited partial trisomy of chromosome 6p identified in a father and daughter by chromosome microdissection.
Journal of medical genetics 1999;36(4):335-8.
1999: C Mas; Martin B Delatycki; R G Weintraub
Persistent truncus arteriosus in monozygotic twins: case report and literature review.
American journal of medical genetics 1999;82(2):146-8.
1998: Martin B Delatycki; DB Paris; R J McKinlay Gardner; K Forshaw; Garth A Nicholson; Najah T Nassif; Robert Williamson; Susan M Forrest
Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene.
Journal of medical genetics 1998;35(9):713-6.
1998: Susan M Forrest; M Knight; Martin B Delatycki; DB Paris; Robert Williamson; J King; L Yeung; Najah T Nassif; Garth A Nicholson
The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene.
Neurogenetics 1998;1(4):253-7.
1998: Martin B Delatycki; John G Rogers
The genetics of fibrodysplasia ossificans progressiva.
Clinical orthopaedics and related research 1998;(346):15-8.
1998: Martin B Delatycki; Mark D Pertile; R J McKinlay Gardner
Trisomy 13 mosaicism at prenatal diagnosis: dilemmas in interpretation.
Prenatal diagnosis 1998;18(1):45-50.
1998: Martin B Delatycki; Steven Nasioulas; K Forshaw; S Forrest
Two novel mutations in exons 5 and 15 of the adenomatous polyposis coli (APC) gene.
Human mutation 1998;Suppl 1():S314-6.
1997: Martin B Delatycki; R J McKinlay Gardner
Three cases of trisomy 13 mosaicism and a review of the literature.
Clinical genetics 1997;51(6):403-7.
1997: Martin B Delatycki; Leslie J Sheffield
Familial heterotaxia: what is the inheritance in this family?
American journal of medical genetics 1997;69(4):429-30.