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Items: 50

1.

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]

2.

Atrial fibrillation ablation in patients with transthyretin cardiac amyloidosis.

Donnellan E, Wazni O, Kanj M, Elshazly MB, Hussein A, Baranowski B, Hanna M, Patel D, Trulock K, Martyn M, Menon V, Saliba W, Jaber WA.

Europace. 2020 Feb 1;22(2):259-264. doi: 10.1093/europace/euz314.

PMID:
32031230
3.

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]

PMID:
31974413
4.

Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy.

Ramchand J, Wallis M, Macciocca I, Lynch E, Farouque O, Martyn M, Phelan D, Chong B, Lockwood S, Weintraub R, Thompson T, Trainer A, Zentner D, Vohra J, Chetrit M, Hare DL, James P.

J Am Heart Assoc. 2020 Jan 21;9(2):e013346. doi: 10.1161/JAHA.119.013346. Epub 2020 Jan 14.

5.

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]

PMID:
31827275
6.

Benchmarking a novel inorganic scintillation detector for applications in radiation therapy.

Alharbi M, Martyn M, O'Keeffe S, Therriault-Proulx F, Beaulieu L, Foley M.

Phys Med. 2019 Dec;68:124-131. doi: 10.1016/j.ejmp.2019.11.018. Epub 2019 Nov 27.

PMID:
31785501
7.

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.

8.

Cardiac devices in patients with transthyretin amyloidosis: Impact on functional class, left ventricular function, mitral regurgitation, and mortality.

Donnellan E, Wazni OM, Saliba WI, Baranowski B, Hanna M, Martyn M, Patel D, Trulock K, Menon V, Hussein A, Aagaard P, Jaber W, Kanj M.

J Cardiovasc Electrophysiol. 2019 Nov;30(11):2427-2432. doi: 10.1111/jce.14180. Epub 2019 Sep 25.

PMID:
31515942
9.

Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol.

Jayasinghe K, Stark Z, Patel C, Mallawaarachchi A, McCarthy H, Faull R, Chakera A, Sundaram M, Jose M, Kerr P, Wu Y, Wardrop L, Goranitis I, Best S, Martyn M, Quinlan C, Mallett AJ.

BMJ Open. 2019 Aug 5;9(8):e029541. doi: 10.1136/bmjopen-2019-029541.

10.

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.

PMID:
31320747
11.

A cost-effectiveness model of genetic testing and periodical clinical screening for the evaluation of families with dilated cardiomyopathy.

Catchpool M, Ramchand J, Martyn M, Hare DL, James PA, Trainer AH, Knight J, Goranitis I.

Genet Med. 2019 Dec;21(12):2815-2822. doi: 10.1038/s41436-019-0582-2. Epub 2019 Jun 20.

12.

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.

PMID:
31148592
13.

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.

14.

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.

PMID:
30776170
15.

Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unit.

Tan NB, Tan TY, Martyn MM, Savarirayan R, Amor DJ, Moody A, White SM, Stark Z.

J Paediatr Child Health. 2019 Nov;55(11):1309-1314. doi: 10.1111/jpc.14398. Epub 2019 Feb 12.

PMID:
30756437
16.

A Randomized Crossover Trial of Conventional vs Virtual Chromoendoscopy for Colitis Surveillance: Dysplasia Detection, Feasibility, and Patient Acceptability (CONVINCE).

Gulati S, Dubois P, Carter B, Cornelius V, Martyn M, Emmanuel A, Haji A, Hayee B.

Inflamm Bowel Dis. 2019 May 4;25(6):1096-1106. doi: 10.1093/ibd/izy360.

PMID:
30576449
17.

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.

PMID:
30158691
18.

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;:.

PMID:
29765138
19.

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.

20.

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.

PMID:
29543227
21.

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.

PMID:
28756429
22.

A Monte Carlo study of the effect of an ultrasound transducer on surface dose during intrafraction motion imaging for external beam radiation therapy.

Martyn M, O'Shea TP, Harris E, Bamber J, Gilroy S, Foley MJ.

Med Phys. 2017 Oct;44(10):5020-5033. doi: 10.1002/mp.12464. Epub 2017 Aug 20.

PMID:
28688115
23.

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

Metcalfe SA, Martyn M, Ames A, Anderson V, Archibald AD, Couns GDG, Carter R, Cohen J, Cotter M, GenCouns M, Dang W, Delatycki MB, Donath S, Edwards S, Educ PD, Couns GDG, Forbes R, Couns GDG, Gavrila M, MedSci M, Halliday J, Hickerton C, Hill M, Couns GDG, Jacobs L, Ultrasound PD, Petrou V, Couns GDG, Plunkett L, GenCouns M, Sheffield L, Racp F, Thornton A, Couns GDG, Younie S, Econ PDH, Emery JD.

Genet Med. 2017 Dec;19(12):1346-1355. doi: 10.1038/gim.2017.67. Epub 2017 Jun 29.

PMID:
28661491
24.

Clinical audit of genetic testing and referral patterns for fragile X and associated conditions.

Cotter M, Archibald AD, McClaren BJ, Burgess T, Francis D, Hills L, Martyn M, Oertel R, Slater H, Cohen J, Metcalfe SA.

Am J Med Genet A. 2016 Jun;170(6):1439-49. doi: 10.1002/ajmg.a.37603. Epub 2016 Feb 18.

PMID:
26892444
25.

High orientation of long chain branched poly (lactic acid) with enhanced blood compatibility and bionic structure.

Li Z, Ye L, Zhao X, Coates P, Caton-Rose F, Martyn M.

J Biomed Mater Res A. 2016 May;104(5):1082-9. doi: 10.1002/jbm.a.35640. Epub 2016 Jan 20.

PMID:
26743130
26.

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

Martyn M, Anderson V, Archibald A, Carter R, Cohen J, Delatycki M, Donath S, Emery J, Halliday J, Hill M, Sheffield L, Slater H, Tassone F, Younie S, Metcalfe S.

BMJ Open. 2013 Sep 10;3(9):e003660. doi: 10.1136/bmjopen-2013-003660.

27.

Structure and blood compatibility of highly oriented PLA/MWNTs composites produced by solid hot drawing.

Li Z, Zhao X, Ye L, Coates P, Caton-Rose F, Martyn M.

J Biomater Appl. 2014 Mar;28(7):978-89. doi: 10.1177/0885328213490047. Epub 2013 Jun 2.

PMID:
23733838
28.

Improving learning with personal response systems.

Innes G, Martyn M.

Nurs Times. 2013 Apr 2-8;109(13):20-2.

PMID:
23621080
29.

Comprehension on family-centered rounds for limited English proficient families.

Lion KC, Mangione-Smith R, Martyn M, Hencz P, Fernandez J, Tamura G.

Acad Pediatr. 2013 May-Jun;13(3):236-42. doi: 10.1016/j.acap.2012.12.002. Epub 2013 Mar 13.

PMID:
23491584
30.

Human leukocyte antigen type and progression from onset of symptoms to development of asthma.

Martyn MB, Molis W, Jacobson RM, Poland GA, Weaver AL, Juhn YJ.

Allergy Asthma Proc. 2010 Mar-Apr;31(2):120-5. doi: 10.2500/aap.2010.31.3321. Epub 2010 Mar 8.

PMID:
20214848
31.

Autosomal recessive ataxias: 20 types, and counting.

Embiruçu EK, Martyn ML, Schlesinger D, Kok F.

Arq Neuropsiquiatr. 2009 Dec;67(4):1143-56. Review.

33.

Developing a curriculum statement based on clinical practice: genetics in primary care.

Burke S, Martyn M, Stone A, Bennett C, Thomas H, Farndon P.

Br J Gen Pract. 2009 Feb;59(559):99-103. doi: 10.3399/bjgp09X395094.

34.

Multicentre evaluation of the Boehringer Mannheim/Hitachi 917 analysis system.

van Suijlen JD, Blijenberg BG, Hofmann J, Bauer K, Zaman Z, Blanckaert N, Degenhard P, Wielckens K, Ferré C, Torralba A, Martyn M, Kelly A, Ceriotti F, Bonini PA, Bablok W, McGovern M, Stockmann W.

J Autom Methods Manag Chem. 2000;22(3):65-81. doi: 10.1155/S1463924600000080.

35.

Characterization of the duration from onset of asthma symptoms to asthma disease.

Martyn M, Weaver AL, Jacobson RM, Juhn YJ.

Ann Allergy Asthma Immunol. 2008 Jun;100(6):589-95. doi: 10.1016/S1081-1206(10)60059-2.

PMID:
18592824
36.

Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25.

Macedo-Souza LI, Kok F, Santos S, Licinio L, Lezirovitz K, Nascimento RM, Bueno C, Martyn M, Leão EK, Zatz M.

Neurogenetics. 2008 Jul;9(3):225-6. doi: 10.1007/s10048-008-0130-8. Epub 2008 May 8. No abstract available.

PMID:
18463901
37.

A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree.

Mitne-Neto M, Kok F, Beetz C, Pessoa A, Bueno C, Graciani Z, Martyn M, Monteiro CB, Mitne G, Hubert P, Nygren AO, Valadares M, Cerqueira AM, Starling A, Deufel T, Zatz M.

Eur J Hum Genet. 2007 Dec;15(12):1276-9. Epub 2007 Sep 26.

38.

[Róbert Martyn M.D. (1904-1999)].

Martyn M.

Orv Hetil. 2005 Apr 3;146(14):668-9. Hungarian. No abstract available.

PMID:
15889543
39.

Effect of hydroxyapatite morphology/surface area on the rheology and processability of hydroxyapatite filled polyethylene composites.

Joseph R, McGregor WJ, Martyn MT, Tanner KE, Coates PD.

Biomaterials. 2002 Nov;23(21):4295-302.

PMID:
12194532
40.

Sensorineural hearing loss after occlusion of the enlarged vestibular aqueduct.

Welling DB, Slater PW, Martyn MD, Antonelli PJ, Gantz BJ, Luxford WM, Shelton C.

Am J Otol. 1999 May;20(3):338-43.

PMID:
10337975
41.

Endolymphatic sac occlusion for the enlarged vestibular aqueduct syndrome.

Welling DB, Martyn MD, Miles BA, Oehler M, Schmalbrock P.

Am J Otol. 1998 Mar;19(2):145-51.

PMID:
9520049
42.

Nodular pulmonary amyloidosis associated with benign hypergammaglobulinemic purpura.

Bignold LP, Martyn M, Basten A.

Chest. 1980 Aug;78(2):334-6.

PMID:
7398425
43.

Therapy as seen by stutterers.

Sheehan JG, Martyn MM.

J Speech Hear Res. 1971 Jun;14(2):445-6. No abstract available.

PMID:
5558103
44.

Stuttering and its disappearance.

Sheehan JG, Martyn MM.

J Speech Hear Res. 1970 Jun;13(2):279-89. No abstract available.

PMID:
5421447
45.

Incidence of stuttering and other speech disorders among the retarded.

Martyn MM, Sheehan J, Slutz K.

Am J Ment Defic. 1969 Sep;74(2):206-11. No abstract available.

PMID:
5822297
46.

Speech disorders in retardation.

Sheehan J, Martyn MM, Kilburn KL.

Am J Ment Defic. 1968 Sep;73(2):251-6. No abstract available.

PMID:
5696176
47.

Onset stuttering and recovery.

Martyn MM.

Behav Res Ther. 1968 Aug;6(3):295-307. No abstract available.

PMID:
5734548
48.

Methodology in studies of recovery from stuttering.

Sheehan J, Martyn MM.

J Speech Hear Res. 1967 Jun;10(2):396-9. No abstract available.

PMID:
6082374
49.

Vocational interest patterns of speech pathologists and audiologists.

Martyn MM, Sheehan J, Hadley RG.

ASHA. 1967 Jun;9(6):207-13. No abstract available.

PMID:
6043402
50.

Spontaneous recovery from stuttering.

Sheehan JG, Martyn MM.

J Speech Hear Res. 1966 Mar;9(1):121-35. No abstract available.

PMID:
5960191

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