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Preparing Medical Specialists for Genomic Medicine: Continuing Education Should Include Opportunities for Experiential Learning.

McClaren BJ, Crellin E, Janinski M, Nisselle AE, Ng L, Metcalfe SA, Gaff CL.

Front Genet. 2020 Mar 3;11:151. doi: 10.3389/fgene.2020.00151. eCollection 2020.


Development of an Evidence-Based, Theory-Informed National Survey of Physician Preparedness for Genomic Medicine and Preferences for Genomics Continuing Education.

McClaren BJ, King EA, Crellin E, Gaff C, Metcalfe SA, Nisselle A.

Front Genet. 2020 Mar 3;11:59. doi: 10.3389/fgene.2020.00059. eCollection 2020.


Utility of clinical comprehensive genomic characterisation for diagnostic categorisation in patients presenting with hypocellular bone marrow failure syndromes.

Blombery P, Fox L, Ryland GL, Thompson ER, Lickiss J, McBean M, Yerneni S, Hughes D, Greenway A, Mechinaud F, Wood EM, Lieschke GJ, Szer J, Barbaro P, Roy J, Wight J, Lynch E, Martyn M, Gaff C, Ritchie D.

Haematologica. 2020 Feb 13. pii: haematol.2019.237693. doi: 10.3324/haematol.2019.237693. [Epub ahead of print]


Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project.

Downie L, Halliday J, Lewis S, Lunke S, Lynch E, Martyn M, Gaff C, Jarmolowicz A, Amor DJ.

Genet Med. 2020 Jan 24. doi: 10.1038/s41436-019-0745-1. [Epub ahead of print]


From Expectations to Experiences: Consumer Autonomy and Choice in Personal Genomic Testing.

Savard J, Hickerton C, Metcalfe SA, Gaff C, Middleton A, Newson AJ.

AJOB Empir Bioeth. 2020 Jan-Mar;11(1):63-76. doi: 10.1080/23294515.2019.1701583. Epub 2019 Dec 30.


Exome sequencing in infants with congenital hearing impairment: a population-based cohort study.

Downie L, Halliday J, Burt R, Lunke S, Lynch E, Martyn M, Poulakis Z, Gaff C, Sung V, Wake M, Hunter MF, Saunders K, Rose E, Lewis S, Jarmolowicz A, Phelan D, Rehm HL; Melbourne Genomics Health Alliance, Amor DJ.

Eur J Hum Genet. 2019 Dec 12. doi: 10.1038/s41431-019-0553-8. [Epub ahead of print]


Ensuring Best Practice in Genomic Education and Evaluation: A Program Logic Approach.

Nisselle A, Martyn M, Jordan H, Kaunein N, McEwen A, Patel C, Terrill B, Bishop M, Metcalfe S, Gaff C.

Front Genet. 2019 Nov 8;10:1057. doi: 10.3389/fgene.2019.01057. eCollection 2019.


Preparing Medical Specialists to Practice Genomic Medicine: Education an Essential Part of a Broader Strategy.

Crellin E, McClaren B, Nisselle A, Best S, Gaff C, Metcalfe S.

Front Genet. 2019 Sep 11;10:789. doi: 10.3389/fgene.2019.00789. eCollection 2019. Review.


Lessons learnt from implementing change in newborn bloodspot screening processes over more than a decade: Midwives, genetics and education.

Nisselle A, Bishop M, Charles T, Morrissy S, King E, Metcalfe S, Gaff C.

Midwifery. 2019 Dec;79:102542. doi: 10.1016/j.midw.2019.102542. Epub 2019 Sep 25.


A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis.

Tan TY, Lunke S, Chong B, Phelan D, Fanjul-Fernandez M, Marum JE, Kumar VS, Stark Z, Yeung A, Brown NJ, Stutterd C, Delatycki MB, Sadedin S, Martyn M, Goranitis I, Thorne N, Gaff CL, White SM.

Eur J Hum Genet. 2019 Dec;27(12):1791-1799. doi: 10.1038/s41431-019-0471-9. Epub 2019 Jul 18.


Australian Genomics: A Federated Model for Integrating Genomics into Healthcare.

Stark Z, Boughtwood T, Phillips P, Christodoulou J, Hansen DP, Braithwaite J, Newson AJ, Gaff CL, Sinclair AH, North KN.

Am J Hum Genet. 2019 Jul 3;105(1):7-14. doi: 10.1016/j.ajhg.2019.06.003.


Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care.

Stark Z, Nisselle A, McClaren B, Lynch F, Best S, Long JC, Martyn M, Patel C, Schlapbach LJ, Barnett C, Theda C, Pinner J, Dinger ME, Lunke S, Gaff CL.

Eur J Hum Genet. 2019 Oct;27(10):1493-1501. doi: 10.1038/s41431-019-0429-y. Epub 2019 May 31.


A transformative translational change programme to introduce genomics into healthcare: a complexity and implementation science study protocol.

Taylor N, Best S, Martyn M, Long JC, North KN, Braithwaite J, Gaff C.

BMJ Open. 2019 Mar 5;9(3):e024681. doi: 10.1136/bmjopen-2018-024681.


Readiness of clinical genetic healthcare professionals to provide genomic medicine: An Australian census.

Nisselle A, Macciocca I, McKenzie F, Vuong H, Dunlop K, McClaren B, Metcalfe S, Gaff C; Australian Genomics Workforce & Education Working Group.

J Genet Couns. 2019 Apr;28(2):367-377. doi: 10.1002/jgc4.1101. Epub 2019 Feb 19.


A novel approach to offering additional genomic findings-A protocol to test a two-step approach in the healthcare system.

Martyn M, Kanga-Parabia A, Lynch E, James PA, Macciocca I, Trainer AH, Halliday J, Keogh L, Wale J, Winship I, Bogwitz M, Valente G, Walsh M, Downie L, Amor D, Wallis M, Cunningham F, Burgess M, Brown NJ, Jarmolowicz A, Lunke S, Goranitis I; Melbourne Genomics Health Alliance, Gaff CL.

J Genet Couns. 2019 Apr;28(2):388-397. doi: 10.1002/jgc4.1102. Epub 2019 Feb 18.


Australians' views and experience of personal genomic testing: survey findings from the Genioz study.

Savard J, Hickerton C, Tytherleigh R, Terrill B, Turbitt E, Newson AJ, Wilson B, Gray K, Gaff C, Middleton A, Stackpoole E, Metcalfe SA.

Eur J Hum Genet. 2019 May;27(5):711-720. doi: 10.1038/s41431-018-0325-x. Epub 2019 Jan 21.


Australians' perspectives on support around use of personal genomic testing: Findings from the Genioz study.

Metcalfe SA, Hickerton C, Savard J, Stackpoole E, Tytherleigh R, Tutty E, Terrill B, Turbitt E, Gray K, Middleton A, Wilson B, Newson AJ, Gaff C.

Eur J Med Genet. 2019 May;62(5):290-299. doi: 10.1016/j.ejmg.2018.11.002. Epub 2018 Nov 13.


Correction: Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness.

Stark Z, Schofield D, Martyn M, Rynehart L, Shrestha R, Alam K, Lunke S, Tan TY, Gaff CL, White SM.

Genet Med. 2019 Feb;21(2):516. doi: 10.1038/s41436-018-0078-5.


Responsible sharing of biomedical data and biospecimens via the "Automatable Discovery and Access Matrix" (ADA-M).

Woolley JP, Kirby E, Leslie J, Jeanson F, Cabili MN, Rushton G, Hazard JG, Ladas V, Veal CD, Gibson SJ, Tassé AM, Dyke SOM, Gaff C, Thorogood A, Knoppers BM, Wilbanks J, Brookes AJ.

NPJ Genom Med. 2018 Jul 23;3:17. doi: 10.1038/s41525-018-0057-4. eCollection 2018. Review.


A theory-informed systematic review of clinicians' genetic testing practices.

Paul JL, Leslie H, Trainer AH, Gaff C.

Eur J Hum Genet. 2018 Oct;26(10):1401-1416. doi: 10.1038/s41431-018-0190-7. Epub 2018 Jun 11.


Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness.

Stark Z, Schofield D, Martyn M, Rynehart L, Shrestha R, Alam K, Lunke S, Tan TY, Gaff CL, White SM.

Genet Med. 2019 Jan;21(1):173-180. doi: 10.1038/s41436-018-0006-8. Epub 2018 May 15. Erratum in: Genet Med. 2018 Aug 29;:.


Australians' views on personal genomic testing: focus group findings from the Genioz study.

Metcalfe SA, Hickerton C, Savard J, Terrill B, Turbitt E, Gaff C, Gray K, Middleton A, Wilson B, Newson AJ.

Eur J Hum Genet. 2018 Aug;26(8):1101-1112. doi: 10.1038/s41431-018-0151-1. Epub 2018 Apr 30.


A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort.

Downie L, Halliday JL, Burt RA, Lunke S, Lynch E, Martyn M, Poulakis Z, Gaff C, Sung V, Wake M, Hunter M, Saunders K, Rose E, Rehm HL, Amor DJ.

BMJ Paediatr Open. 2017 Sep 14;1(1):e000119. doi: 10.1136/bmjpo-2017-000119. eCollection 2017.


Exploring the feasibility and utility of exome-scale tumour sequencing in a clinical setting.

Lee B, Tran B, Hsu AL, Taylor GR, Fox SB, Fellowes A, Marquis R, Mooi J, Desai J, Doig K, Ekert P, Gaff C, Herath D, Hamilton A, James P, Roberts A, Snyder R, Waring P, McArthur G.

Intern Med J. 2018 Jul;48(7):786-794. doi: 10.1111/imj.13806.


Meeting the challenges of implementing rapid genomic testing in acute pediatric care.

Stark Z, Lunke S, Brett GR, Tan NB, Stapleton R, Kumble S, Yeung A, Phelan DG, Chong B, Fanjul-Fernandez M, Marum JE, Hunter M, Jarmolowicz A, Prawer Y, Riseley JR, Regan M, Elliott J, Martyn M, Best S, Tan TY, Gaff CL, White SM; Melbourne Genomics Health Alliance.

Genet Med. 2018 Dec;20(12):1554-1563. doi: 10.1038/gim.2018.37. Epub 2018 Mar 15.


Discussions about predictive genetic testing for Lynch syndrome: the role of health professionals and families in decisions to decline.

Kanga-Parabia A, Gaff C, Flander L, Jenkins M, Keogh LA.

Fam Cancer. 2018 Oct;17(4):547-555. doi: 10.1007/s10689-018-0078-2.


Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders.

Dillon OJ, Lunke S, Stark Z, Yeung A, Thorne N; Melbourne Genomics Health Alliance, Gaff C, White SM, Tan TY.

Eur J Hum Genet. 2018 May;26(5):644-651. doi: 10.1038/s41431-018-0099-1. Epub 2018 Feb 16.


Consumer Health Informatics Aspects of Direct-to-Consumer Personal Genomic Testing.

Gray K, Stephen R, Terrill B, Wilson B, Middleton A, Tytherleigh R, Turbitt E, Gaff C, Savard J, Hickerton C, Newson A, Metcalfe S.

Stud Health Technol Inform. 2017;245:89-93.


Genetic Counsellors and Private Practice: Professional Turbulence and Common Values.

Collis S, Gaff C, Wake S, McEwen A.

J Genet Couns. 2018 Aug;27(4):782-791. doi: 10.1007/s10897-017-0201-9. Epub 2017 Dec 27.


Erratum: Preparing for genomic medicine: a real world demonstration of health system change.

Gaff CL, M Winship I, M Forrest S, P Hansen D, Clark J, M Waring P, South M, H Sinclair A.

NPJ Genom Med. 2017 Oct 5;2:31. doi: 10.1038/s41525-017-0028-1. eCollection 2017.


Preparing for genomic medicine: a real world demonstration of health system change.

Gaff CL, M Winship I, M Forrest S, P Hansen D, Clark J, M Waring P, South M, H Sinclair A.

NPJ Genom Med. 2017 May 1;2:16. doi: 10.1038/s41525-017-0017-4. eCollection 2017. Review. Erratum in: NPJ Genom Med. 2017 Oct 5;2:31.


A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data.

Stark Z, Dashnow H, Lunke S, Tan TY, Yeung A, Sadedin S, Thorne N, Macciocca I, Gaff C; Melbourne Genomics Health Alliance, Oshlack A, White SM, James PA.

Eur J Hum Genet. 2017 Nov;25(11):1268-1272. doi: 10.1038/ejhg.2017.123. Epub 2017 Aug 23.


Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.

Tan TY, Dillon OJ, Stark Z, Schofield D, Alam K, Shrestha R, Chong B, Phelan D, Brett GR, Creed E, Jarmolowicz A, Yap P, Walsh M, Downie L, Amor DJ, Savarirayan R, McGillivray G, Yeung A, Peters H, Robertson SJ, Robinson AJ, Macciocca I, Sadedin S, Bell K, Oshlack A, Georgeson P, Thorne N, Gaff C, White SM.

JAMA Pediatr. 2017 Sep 1;171(9):855-862. doi: 10.1001/jamapediatrics.2017.1755.


Interacting with Genomic Data: Clinician Requirements and Prototype Structure.

Bradford D, Berkovsky S, Martyn M, Bakkar T, Krahnert M, Rodriguez M, Bauer D, Ireland D, Gaff C.

Stud Health Technol Inform. 2017;239:1-7.


Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy.

Walsh M, Bell KM, Chong B, Creed E, Brett GR, Pope K, Thorne NP, Sadedin S, Georgeson P, Phelan DG, Day T, Taylor JA, Sexton A, Lockhart PJ, Kiers L, Fahey M, Macciocca I, Gaff CL, Oshlack A, Yiu EM, James PA, Stark Z, Ryan MM; Melbourne Genomics Health Alliance.

Ann Clin Transl Neurol. 2017 Apr 26;4(5):318-325. doi: 10.1002/acn3.409. eCollection 2017 May.


Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy.

Perucca P, Scheffer IE, Harvey AS, James PA, Lunke S, Thorne N, Gaff C, Regan BM, Damiano JA, Hildebrand MS, Berkovic SF, O'Brien TJ, Kwan P.

Epilepsy Res. 2017 Mar;131:1-8. doi: 10.1016/j.eplepsyres.2017.02.001. Epub 2017 Feb 7.


Choosing not to undergo predictive genetic testing for hereditary colorectal cancer syndromes: expanding our understanding of decliners and declining.

Keogh LA, Niven H, Rutstein A, Flander L, Gaff C, Jenkins M.

J Behav Med. 2017 Aug;40(4):583-594. doi: 10.1007/s10865-016-9820-0. Epub 2017 Feb 14.


Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement.

Stark Z, Schofield D, Alam K, Wilson W, Mupfeki N, Macciocca I, Shrestha R, White SM, Gaff C.

Genet Med. 2017 Aug;19(8):867-874. doi: 10.1038/gim.2016.221. Epub 2017 Jan 26.


How does genetic risk information for Lynch syndrome translate to risk management behaviours?

Steel E, Robbins A, Jenkins M, Flander L, Gaff C, Keogh L.

Hered Cancer Clin Pract. 2017 Jan 5;15:1. doi: 10.1186/s13053-016-0061-6. eCollection 2017.


The Impact of Receiving Predictive Genetic Information about Lynch Syndrome on Individual Colonoscopy and Smoking Behaviors.

Kim JS, Coyte PC, Cotterchio M, Keogh LA, Flander LB, Gaff C, Laporte A.

Cancer Epidemiol Biomarkers Prev. 2016 Nov;25(11):1524-1533. Epub 2016 Aug 15.


A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

Stark Z, Tan TY, Chong B, Brett GR, Yap P, Walsh M, Yeung A, Peters H, Mordaunt D, Cowie S, Amor DJ, Savarirayan R, McGillivray G, Downie L, Ekert PG, Theda C, James PA, Yaplito-Lee J, Ryan MM, Leventer RJ, Creed E, Macciocca I, Bell KM, Oshlack A, Sadedin S, Georgeson P, Anderson C, Thorne N, Melbourne Genomics Health Alliance, Gaff C, White SM.

Genet Med. 2016 Nov;18(11):1090-1096. doi: 10.1038/gim.2016.1. Epub 2016 Mar 3.


Known unknowns: building an ethics of uncertainty into genomic medicine.

Newson AJ, Leonard SJ, Hall A, Gaff CL.

BMC Med Genomics. 2016 Sep 1;9(1):57. doi: 10.1186/s12920-016-0219-0.


Personalised Medicine Possible With Real-Time Integration of Genomic and Clinical Data To Inform Clinical Decision-Making.

Martin-Sanchez F, Turner M, Johnstone A, Heffer L, Rafael N; Advisory Group, Bakker T, Thorne N, Macciocca I, Gaff C.

Stud Health Technol Inform. 2015;216:1052.


Cpipe: a shared variant detection pipeline designed for diagnostic settings.

Sadedin SP, Dashnow H, James PA, Bahlo M, Bauer DC, Lonie A, Lunke S, Macciocca I, Ross JP, Siemering KR, Stark Z, White SM; Melbourne Genomics Health Alliance, Taylor G, Gaff C, Oshlack A, Thorne NP.

Genome Med. 2015 Jul 10;7(1):68. doi: 10.1186/s13073-015-0191-x. eCollection 2015.


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 MB, Winship I, Skene L, Aitken M, Halliday J.

Eur J Hum Genet. 2016 Mar;24(3):356-60. doi: 10.1038/ejhg.2015.122. Epub 2015 Jul 1.


Integrating genomics with health care.

Lockett T, Gaff C.

Med J Aust. 2014 May 19;200(9):510. No abstract available.


Genomics and personalised whole-of-life healthcare.

Bauer DC, Gaff C, Dinger ME, Caramins M, Buske FA, Fenech M, Hansen D, Cobiac L.

Trends Mol Med. 2014 Sep;20(9):479-86. doi: 10.1016/j.molmed.2014.04.001. Epub 2014 May 4. Review.


Interdisciplinary education for genetic counselors: developing the concept and assessing the need in australasia.

Mann KJ, Taylor JA, James PA, Gaff C.

J Genet Couns. 2014 Oct;23(5):708-24. doi: 10.1007/s10897-014-9723-6. Epub 2014 May 1.


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

Hodgson JM, Metcalfe SA, Aitken M, Donath SM, Gaff CL, Winship IM, Delatycki MB, Skene LL, McClaren BJ, Paul JL, Halliday JL.

BMC Med Genet. 2014 Mar 14;15:33. doi: 10.1186/1471-2350-15-33.


A genetic counseling intervention to facilitate family communication about inherited conditions.

Gaff C, Hodgson J.

J Genet Couns. 2014 Oct;23(5):814-23. doi: 10.1007/s10897-014-9696-5. Epub 2014 Mar 1.


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