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Items: 1 to 50 of 298

1.

Model consent clauses for rare disease research.

Nguyen MT, Goldblatt J, Isasi R, Jagut M, Jonker AH, Kaufmann P, Ouillade L, Molnar-Gabor F, Shabani M, Sid E, Tassé AM, Wong-Rieger D, Knoppers BM; IRDiRC-GA4GH Model Consent Clauses Task Force.

BMC Med Ethics. 2019 Aug 1;20(1):55. doi: 10.1186/s12910-019-0390-x.

2.

A Requirement for Neutrophil Glycosaminoglycans in Chemokine:Receptor Interactions Is Revealed by the Streptococcal Protease SpyCEP.

Goldblatt J, Lawrenson RA, Muir L, Dattani S, Hoffland A, Tsuchiya T, Kanegasaki S, Sriskandan S, Pease JE.

J Immunol. 2019 Jun 1;202(11):3246-3255. doi: 10.4049/jimmunol.1801688. Epub 2019 Apr 22.

3.

MySafeRx: a mobile technology platform integrating motivational coaching, adherence monitoring, and electronic pill dispensing for enhancing buprenorphine/naloxone adherence during opioid use disorder treatment: a pilot study.

Schuman-Olivier Z, Borodovsky JT, Steinkamp J, Munir Q, Butler K, Greene MA, Goldblatt J, Xie HY, Marsch LA.

Addict Sci Clin Pract. 2018 Sep 24;13(1):21. doi: 10.1186/s13722-018-0122-4.

4.

Use of Transcatheter Valves for Open Surgical Mitral Valve Replacement. Australian Experience.

Ahmad T, Ludhani PM, Gurvitch R, Larobina M, Goldblatt J, Tatoulis J.

Heart Lung Circ. 2019 Mar;28(3):464-470. doi: 10.1016/j.hlc.2018.02.008. Epub 2018 Feb 21.

PMID:
30170916
5.

Preoperative PROMIS Scores Predict Postoperative Outcomes After Primary ACL Reconstruction.

Chen RE, Papuga MO, Voloshin I, Nicandri GT, Goldblatt JP, Bronstein RD, Rouse LM, Maloney MD.

Orthop J Sports Med. 2018 May 8;6(5):2325967118771286. doi: 10.1177/2325967118771286. eCollection 2018 May.

6.

Improved Survival After the Ross Procedure Compared With Mechanical Aortic Valve Replacement.

Buratto E, Shi WY, Wynne R, Poh CL, Larobina M, O'Keefe M, Goldblatt J, Tatoulis J, Skillington PD.

J Am Coll Cardiol. 2018 Mar 27;71(12):1337-1344. doi: 10.1016/j.jacc.2018.01.048.

7.

The Ross procedure in adults presenting with bicuspid aortic valve and pure aortic regurgitation: 85% freedom from reoperation at 20 years.

Poh CL, Buratto E, Larobina M, Wynne R, O'Keefe M, Goldblatt J, Tatoulis J, Skillington PD.

Eur J Cardiothorac Surg. 2018 Sep 1;54(3):420-426. doi: 10.1093/ejcts/ezy073.

PMID:
29546380
8.

Clinical significance of circulating microRNAs as markers in detecting and predicting congenital heart defects in children.

Song Y, Higgins H, Guo J, Harrison K, Schultz EN, Hales BJ, Moses EK, Goldblatt J, Pachter N, Zhang G.

J Transl Med. 2018 Feb 27;16(1):42. doi: 10.1186/s12967-018-1411-0.

9.

Minimally Invasive Aortic Valve Replacement Via Right Anterior Mini-Thoracotomy: Propensity Matched Initial Experience.

Seitz M, Goldblatt J, Paul E, Marcus T, Larobina M, Yap CH.

Heart Lung Circ. 2019 Feb;28(2):320-326. doi: 10.1016/j.hlc.2017.11.012. Epub 2017 Dec 7.

PMID:
29291961
10.

Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity.

Baynam G, Molster C, Bauskis A, Kowal E, Savarirayan R, Kelaher M, Easteal S, Massey L, Garvey G, Goldblatt J, Pachter N, Weeramanthri TS, Dawkins HJS.

Adv Exp Med Biol. 2017;1031:511-520. doi: 10.1007/978-3-319-67144-4_27. Review.

PMID:
29214589
11.

Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.

Baynam G, Bowman F, Lister K, Walker CE, Pachter N, Goldblatt J, Boycott KM, Gahl WA, Kosaki K, Adachi T, Ishii K, Mahede T, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Groza T, Zankl A, Robinson PN, Haendel M, Brudno M, Mattick JS, Dinger ME, Roscioli T, Cowley MJ, Olry A, Hanauer M, Alkuraya FS, Taruscio D, Posada de la Paz M, Lochmüller H, Bushby K, Thompson R, Hedley V, Lasko P, Mina K, Beilby J, Tifft C, Davis M, Laing NG, Julkowska D, Le Cam Y, Terry SF, Kaufmann P, Eerola I, Norstedt I, Rath A, Suematsu M, Groft SC, Austin CP, Draghia-Akli R, Weeramanthri TS, Molster C, Dawkins HJS.

Adv Exp Med Biol. 2017;1031:55-94. doi: 10.1007/978-3-319-67144-4_4. Review.

PMID:
29214566
12.

Study on the time taken for patients to achieve the ability to self-care their new stoma.

Goldblatt J, Buxey K, Paul E, Foot-Connolly R, Leech T, Bell S.

ANZ J Surg. 2018 Jun;88(6):E503-E506. doi: 10.1111/ans.14195. Epub 2017 Oct 5.

PMID:
28982215
13.

Should eliglustat be first line therapy for patients with type 1 Gaucher disease? Definitions of safety and efficacy.

Zimran A, Goldblatt J, Szer J.

Blood Cells Mol Dis. 2018 Feb;68:14-16. doi: 10.1016/j.bcmd.2017.09.003. Epub 2017 Sep 14. Review. No abstract available.

PMID:
28935503
14.

Open surgical mitral valve replacement with a transcatheter Edwards Sapien-XT valve.

Ahmad T, Ludhani PM, Gurvitch R, Goldblatt J, Tatoulis J.

ANZ J Surg. 2019 Apr;89(4):436-438. doi: 10.1111/ans.14133. Epub 2017 Aug 4. No abstract available.

PMID:
28776919
15.

Surgical Aortic Valve Replacement Following Early Sapien-XT Valve Failure: A First.

Ahmad T, Ludhani P, Gurvitch R, Goldblatt J, Tatoulis J.

Heart Lung Circ. 2018 Apr;27(4):513-516. doi: 10.1016/j.hlc.2017.04.004. Epub 2017 May 9.

PMID:
28533099
16.

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, Brookes AJ, Brudno M, Carracedo A, den Dunnen JT, Dyke SOM, Estivill X, Goldblatt J, Gonthier C, Groft SC, Gut I, Hamosh A, Hieter P, Höhn S, Hurles ME, Kaufmann P, Knoppers BM, Krischer JP, Macek M Jr, Matthijs G, Olry A, Parker S, Paschall J, Philippakis AA, Rehm HL, Robinson PN, Sham PC, Stefanov R, Taruscio D, Unni D, Vanstone MR, Zhang F, Brunner H, Bamshad MJ, Lochmüller H.

Am J Hum Genet. 2017 May 4;100(5):695-705. doi: 10.1016/j.ajhg.2017.04.003.

17.

Initiating an undiagnosed diseases program in the Western Australian public health system.

Baynam G, Broley S, Bauskis A, Pachter N, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Schofield L, Helmholz P, Palmer R, Kung S, Walker CE, Molster C, Lewis B, Mina K, Beilby J, Pathak G, Poulton C, Groza T, Zankl A, Roscioli T, Dinger ME, Mattick JS, Gahl W, Groft S, Tifft C, Taruscio D, Lasko P, Kosaki K, Wilhelm H, Melegh B, Carapetis J, Jana S, Chaney G, Johns A, Owen PW, Daly F, Weeramanthri T, Dawkins H, Goldblatt J.

Orphanet J Rare Dis. 2017 May 3;12(1):83. doi: 10.1186/s13023-017-0619-z.

18.

3-Dimensional Facial Analysis-Facing Precision Public Health.

Baynam G, Bauskis A, Pachter N, Schofield L, Verhoef H, Palmer RL, Kung S, Helmholz P, Ridout M, Walker CE, Hawkins A, Goldblatt J, Weeramanthri TS, Dawkins HJS, Molster CM.

Front Public Health. 2017 Apr 10;5:31. doi: 10.3389/fpubh.2017.00031. eCollection 2017.

19.

Design of a framework for the deployment of collaborative independent rare disease-centric registries: Gaucher disease registry model.

Bellgard MI, Napier KR, Bittles AH, Szer J, Fletcher S, Zeps N, Hunter AA, Goldblatt J.

Blood Cells Mol Dis. 2018 Feb;68:232-238. doi: 10.1016/j.bcmd.2017.01.013. Epub 2017 Jan 27.

20.

No simple answers for the Finnish and Russian Karelia allergy contrast: Methylation of CD14 gene.

Khoo SK, Mäkelä M, Chandler D, Schultz EN, Jamieson SE, Goldblatt J, Haahtela T, LeSouëf P, Zhang G.

Pediatr Allergy Immunol. 2016 Nov;27(7):721-727. doi: 10.1111/pai.12612. Epub 2016 Sep 12.

PMID:
27434019
21.

Rhinovirus C is associated with wheezing and rhinovirus A is associated with pneumonia in hospitalized children in Morocco.

Annamalay AA, Jroundi I, Bizzintino J, Khoo SK, Zhang G, Lehmann D, Laing IA, Gern J, Goldblatt J, Mahraoui C, Benmessaoud R, Moraleda C, Bassat Q, Le Souëf P.

J Med Virol. 2017 Apr;89(4):582-588. doi: 10.1002/jmv.24684. Epub 2016 Sep 30.

PMID:
27677921
22.

HABP2 germline variants are uncommon in familial nonmedullary thyroid cancer.

Weeks AL, Wilson SG, Ward L, Goldblatt J, Hui J, Walsh JP.

BMC Med Genet. 2016 Aug 17;17(1):60. doi: 10.1186/s12881-016-0323-1.

23.

Rhinovirus species and clinical features in children hospitalised with pneumonia from Mozambique.

Annamalay AA, Lanaspa M, Khoo SK, Madrid L, Acácio S, Zhang G, Laing IA, Gern J, Goldblatt J, Bizzintino J, Lehmann D, Le Souëf PN, Bassat Q.

Trop Med Int Health. 2016 Sep;21(9):1171-80. doi: 10.1111/tmi.12743. Epub 2016 Jul 26.

24.

Respiratory viruses in young South African children with acute lower respiratory infections and interactions with HIV.

Annamalay AA, Abbott S, Sikazwe C, Khoo SK, Bizzintino J, Zhang G, Laing I, Chidlow GR, Smith DW, Gern J, Goldblatt J, Lehmann D, Green RJ, Le Souëf PN.

J Clin Virol. 2016 Aug;81:58-63. doi: 10.1016/j.jcv.2016.06.002. Epub 2016 Jun 4.

PMID:
27317881
25.

The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service.

Baynam G, Pachter N, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Walker CE, Molster C, Blackwell JM, Jamieson S, Tang D, Lassmann T, Mina K, Beilby J, Davis M, Laing N, Murphy L, Weeramanthri T, Dawkins H, Goldblatt J.

Orphanet J Rare Dis. 2016 Jun 11;11(1):77. doi: 10.1186/s13023-016-0462-7.

26.

Interruption of enzyme replacement therapy in Gaucher disease.

Goldblatt J, Fletcher JM, McGill J, Szer J, Wilson M.

S Afr Med J. 2016 May 25;106(6 Suppl 1):S79-81. doi: 10.7196/SAMJ.2016.v106i6.11002.

PMID:
27245534
27.

MTHFR genetic testing: Controversy and clinical implications.

Long S, Goldblatt J.

Aust Fam Physician. 2016 Apr;45(4):237-40. Review.

28.

Western environment/lifestyle is associated with increased genome methylation and decreased gene expression in Chinese immigrants living in Australia.

Zhang G, Wang K, Schultz E, Khoo SK, Zhang X, Annamalay A, Laing IA, Hales BJ, Goldblatt J, Le Souëf PN.

Environ Mol Mutagen. 2016 Jan;57(1):65-73. doi: 10.1002/em.21989. Epub 2015 Dec 16.

PMID:
26671525
29.

Longitudinal assessment of airway responsiveness from 1 month to 18 years in the PIAF birth cohort.

Cox DW, Mullane D, Zhang GC, Turner SW, Hayden CM, Goldblatt J, Landau LI, Le Souëf PN.

Eur Respir J. 2015 Dec;46(6):1654-61. doi: 10.1183/13993003.00397-2015. Epub 2015 Oct 22.

30.

Pericardial Synovial Sarcoma: A Rare Clinical Entity.

Goldblatt J, Saxena P, McGiffin DC, Zimmet A.

J Card Surg. 2015 Nov;30(11):801-4. doi: 10.1111/jocs.12609. Epub 2015 Sep 8. Review.

PMID:
26347295
31.

Assessing Diagnostic Arthroscopy Performance in the Operating Room Using the Arthroscopic Surgery Skill Evaluation Tool (ASSET).

Koehler RJ, Goldblatt JP, Maloney MD, Voloshin I, Nicandri GT.

Arthroscopy. 2015 Dec;31(12):2314-9.e2. doi: 10.1016/j.arthro.2015.06.011. Epub 2015 Aug 28.

PMID:
26319640
32.

Recurrent rhinovirus detections in children following a rhinovirus-induced wheezing exacerbation: A retrospective study.

Halmø Hürdum S, Zhang G, Khoo SK, Bizzintino J, Franks KM, Lindsay K, Keil AD, Cox DW, Goldblatt J, Bochkov YA, Gern J, Ulrik CS, Souëf PN, Laing IA.

Int J Pediatr Child Health. 2015 Aug;3(1):10-18. doi: 10.12974/2311-8687.2015.03.01.2.

33.

A Registry Framework Enabling Patient-Centred Care.

Bellgard MI, Napier K, Render L, Radochonski M, Lamont L, Graham C, Wilton SD, Fletcher S, Goldblatt J, Hunter AA, Weeramanthri T.

Stud Health Technol Inform. 2015;214:8-14.

PMID:
26210411
34.

Mycotic Pseudoaneurysms of the Coronary Arteries.

Goldblatt J, Doi A, Negri J, Nanayakkara S, McGiffin D.

J Card Surg. 2015 Jul;30(7):555-9. doi: 10.1111/jocs.12563. Epub 2015 May 19. Review.

PMID:
25989425
35.

A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces.

Baynam G, Overkov A, Davis M, Mina K, Schofield L, Allcock R, Laing N, Cook M, Dawkins H, Goldblatt J.

Am J Med Genet A. 2015 Jul;167(7):1659-67. doi: 10.1002/ajmg.a.37070. Epub 2015 Apr 6.

PMID:
25851998
36.

Monitoring of Therapy for Mucopolysaccharidosis Type I Using Dysmorphometric Facial Phenotypic Signatures.

Kung S, Walters M, Claes P, LeSouef P, Goldblatt J, Martin A, Balasubramaniam S, Baynam G.

JIMD Rep. 2015;22:99-106. doi: 10.1007/8904_2015_417. Epub 2015 Mar 3.

37.

Temporal Stability of Rotors and Atrial Activation Patterns in Persistent Human Atrial Fibrillation: A High-Density Epicardial Mapping Study of Prolonged Recordings.

Walters TE, Lee G, Morris G, Spence S, Larobina M, Atkinson V, Antippa P, Goldblatt J, Royse A, O'Keefe M, Sanders P, Morton JB, Kistler PM, Kalman JM.

JACC Clin Electrophysiol. 2015 Mar - Apr;1(1-2):14-24. doi: 10.1016/j.jacep.2015.02.012. Epub 2015 Apr 20.

38.

Acute atrial stretch results in conduction slowing and complex signals at the pulmonary vein to left atrial junction: insights into the mechanism of pulmonary vein arrhythmogenesis.

Walters TE, Lee G, Spence S, Larobina M, Atkinson V, Antippa P, Goldblatt J, O'Keefe M, Sanders P, Kistler PM, Kalman JM.

Circ Arrhythm Electrophysiol. 2014 Dec;7(6):1189-97. doi: 10.1161/CIRCEP.114.001894. Epub 2014 Nov 5.

PMID:
25516579
39.

Noninvasive prenatal testing (NIPT) in Western Australia; considerations in clinical practice.

Long S, Goldblatt J.

Aust N Z J Obstet Gynaecol. 2014 Oct;54(5):487-9. doi: 10.1111/ajo.12232.

PMID:
25287567
40.

Functional and imaging outcomes of arthroscopic simultaneous rotator cuff repair and bankart repair after shoulder dislocations.

Shields E, Mirabelli M, Amsdell S, Thorsness R, Goldblatt J, Maloney M, Voloshin I.

Am J Sports Med. 2014 Nov;42(11):2614-20. doi: 10.1177/0363546514550993. Epub 2014 Sep 26.

PMID:
25261085
41.

Phenotyping: targeting genotype's rich cousin for diagnosis.

Baynam G, Walters M, Claes P, Kung S, LeSouef P, Dawkins H, Bellgard M, Girdea M, Brudno M, Robinson P, Zankl A, Groza T, Gillett D, Goldblatt J.

J Paediatr Child Health. 2015 Apr;51(4):381-6. doi: 10.1111/jpc.12705. Epub 2014 Aug 11. Review.

PMID:
25109851
42.

Maternal Genetic Variants of IL4/IL13 Pathway Genes on IgE With "Western or Eastern Environments/Lifestyles".

Zhang G, Khoo SK, Mäkelä MJ, Candelaria P, Hayden CM, von Hertzen L, Laatikainen T, Vartiainen E, Goldblatt J, Haahtela T, LeSouëf PN.

Allergy Asthma Immunol Res. 2014 Jul;6(4):350-6. doi: 10.4168/aair.2014.6.4.350. Epub 2014 Mar 20.

43.

A longitudinal study of lung function from 1 month to 18 years of age.

Turner S, Fielding S, Mullane D, Cox DW, Goldblatt J, Landau L, le Souef P.

Thorax. 2014 Nov;69(11):1015-20. doi: 10.1136/thoraxjnl-2013-204931. Epub 2014 Jun 2.

PMID:
24891326
44.

Plasma advanced oxidative protein products are associated with anti-oxidative stress pathway genes and malaria in a longitudinal cohort.

Zhang G, Skorokhod OA, Khoo SK, Aguilar R, Wiertsema S, Nhabomba AJ, Marrocco T, McNamara-Smith M, Manaca MN, Barbosa A, Quintó L, Hayden CM, Goldblatt J, Guinovart C, Alonso PL, Dobaño C, Schwarzer E, LeSouëf PN.

Malar J. 2014 Apr 3;13:134. doi: 10.1186/1475-2875-13-134.

45.

Population-based screening for Lynch syndrome in Western Australia.

Schofield L, Grieu F, Amanuel B, Carrello A, Spagnolo D, Kiraly C, Pachter N, Goldblatt J, Platell C, Levitt M, Stewart C, Salama P, Ee H, Raftopoulous S, Katris P, Threlfall T, Edkins E, Wallace M, Iacopetta B.

Int J Cancer. 2014 Sep 1;135(5):1085-91. doi: 10.1002/ijc.28744. Epub 2014 Feb 24.

46.

Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer.

Win AK, Dowty JG, Cleary SP, Kim H, Buchanan DD, Young JP, Clendenning M, Rosty C, MacInnis RJ, Giles GG, Boussioutas A, Macrae FA, Parry S, Goldblatt J, Baron JA, Burnett T, Le Marchand L, Newcomb PA, Haile RW, Hopper JL, Cotterchio M, Gallinger S, Lindor NM, Tucker KM, Winship IM, Jenkins MA.

Gastroenterology. 2014 May;146(5):1208-11.e1-5. doi: 10.1053/j.gastro.2014.01.022. Epub 2014 Jan 17.

47.

The Western Australian family connections genealogical project: detection of familial occurrences of single gene and chromosomal disorders.

Brameld KJ, Dye DE, Maxwell S, Brisbane JM, Glasson EJ, Goldblatt J, O'Leary P.

Genet Test Mol Biomarkers. 2014 Feb;18(2):77-82. doi: 10.1089/gtmb.2013.0254. Epub 2014 Jan 9.

PMID:
24405042
48.

Human rhinovirus species C infection in young children with acute wheeze is associated with increased acute respiratory hospital admissions.

Cox DW, Bizzintino J, Ferrari G, Khoo SK, Zhang G, Whelan S, Lee WM, Bochkov YA, Geelhoed GC, Goldblatt J, Gern JE, Laing IA, Le Souëf PN.

Am J Respir Crit Care Med. 2013 Dec 1;188(11):1358-64. doi: 10.1164/rccm.201303-0498OC.

49.

Epicardial wave mapping in human long-lasting persistent atrial fibrillation: transient rotational circuits, complex wavefronts, and disorganized activity.

Lee G, Kumar S, Teh A, Madry A, Spence S, Larobina M, Goldblatt J, Brown R, Atkinson V, Moten S, Morton JB, Sanders P, Kistler PM, Kalman JM.

Eur Heart J. 2014 Jan;35(2):86-97. doi: 10.1093/eurheartj/eht267. Epub 2013 Aug 8.

PMID:
23935092
50.

Predictive gene testing for Huntington disease and other neurodegenerative disorders.

Wedderburn S, Panegyres PK, Andrew S, Goldblatt J, Liebeck T, McGrath F, Wiltshire M, Pestell C, Lee J, Beilby J.

Intern Med J. 2013 Dec;43(12):1272-9. doi: 10.1111/imj.12176.

PMID:
23654213

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