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Clinical and genetic variability in children with partial albinism.

Campbell P, Ellingford JM, Parry NRA, Fletcher T, Ramsden SC, Gale T, Hall G, Smith K, Kasperaviciute D, Thomas E, Lloyd IC, Douzgou S, Clayton-Smith J, Biswas S, Ashworth JL, Black GCM, Sergouniotis PI.

Sci Rep. 2019 Nov 12;9(1):16576. doi: 10.1038/s41598-019-51768-8.


What does it take to provide clinical interventions with temporal consistency? A qualitative study of London hyperacute stroke units.

Black GB, Ramsay AIG, Baim-Lance A, Eng J, Melnychuk M, Xanthopoulou P, Brown MM, Morris S, Rudd AG, Simister R, Fulop NJ.

BMJ Open. 2019 Nov 7;9(11):e025367. doi: 10.1136/bmjopen-2018-025367.


Variation in quality of acute stroke care by day and time of admission: prospective cohort study of weekday and weekend centralised hyperacute stroke unit care and non-centralised services.

Melnychuk M, Morris S, Black G, Ramsay AIG, Eng J, Rudd A, Baim-Lance A, Brown MM, Fulop NJ, Simister R.

BMJ Open. 2019 Nov 7;9(11):e025366. doi: 10.1136/bmjopen-2018-025366.


Development of a Risk Score to Predict New Pacemaker Implantation After Transcatheter Aortic Valve Replacement.

Kiani S, Kamioka N, Black GB, Lu MLR, Lisko JC, Rao B, Mengistu A, Gleason PT, Stewart JP, Caughron H, Dong A, Patel H, Grubb KJ, Greenbaum AB, Devireddy CM, Guyton RA, Leshnower B, Merchant FM, El-Chami M, Westerman SB, Lloyd MS, Babaliaros VC, Hoskins MH.

JACC Cardiovasc Interv. 2019 Nov 11;12(21):2133-2142. doi: 10.1016/j.jcin.2019.07.015.


The Safety and Feasibility of Same-Day Discharge After Implantation of MICRA Transcatheter Leadless Pacemaker System.

Kiani S, Black GB, Rao B, Thakkar N, Massad C, Patel AV, Lu MLR, Merchant FM, Hoskins MH, De Lurgio DB, Patel AM, Shah AD, Leon AR, Westerman SB, Lloyd MS, El-Chami MF.

J Atr Fibrillation. 2019 Jun 30;12(1):2153. doi: 10.4022/jafib.2153. eCollection 2019 Jun.


Cochlear implantation in the era of genomic medicine.

Molina-Ramirez LP, Bruce IA, Black GCM.

Cochlear Implants Int. 2019 Oct 24:1-4. doi: 10.1080/14670100.2019.1678895. [Epub ahead of print] No abstract available.


Improving care quality with prison telemedicine: The effects of context and multiplicity on successful implementation and use.

Edge C, Black G, King E, George J, Patel S, Hayward A.

J Telemed Telecare. 2019 Oct 22:1357633X19869131. doi: 10.1177/1357633X19869131. [Epub ahead of print] No abstract available.


Diagnosing and Preventing Hearing Loss in the Genomic Age.

McDermott JH, Molina-Ramírez LP, Bruce IA, Mahaveer A, Turner M, Miele G, Body R, Mahood R, Ulph F, MacLeod R, Harvey K, Booth N, Demain LAM, Wilson P, Black GC, Morton CC, Newman WG.

Trends Hear. 2019 Jan-Dec;23:2331216519878983. doi: 10.1177/2331216519878983.


A facile and regioselective multicomponent synthesis of chiral aryl-1,2-mercaptoamines in water followed by monoamine oxidase (MAO-N) enzymatic resolution.

Lauder K, Masci D, Toscani A, Al Mekdad A, Black GW, Brown NL, Turner NJ, Luisi R, Castagnolo D.

Org Biomol Chem. 2019 Oct 28;17(40):8982-8986. doi: 10.1039/c9ob01962f. Epub 2019 Oct 4.


Scientific Business Abstracts of the 113th Annual Meeting of the Association of Physicians of Great Britain and Ireland.

Cacciottolo TM, Perikari A, van der Klaauw A, Henning E, Stadler LKJ, Keogh J, Farooqi IS, Tenin G, Keavney B, Ryan E, Budd R, Bewley M, Coelho P, Rumsey W, Sanchez Y, McCafferty J, Dockrell D, Walmsley S, Whyte M, Liu Y, Choy MK, Tenin G, Abraham S, Black G, Keavney B, Ford T, Stanley B, Good R, Rocchiccioli P, McEntegart M, Watkins S, Eteiba H, Shaukat A, Lindsay M, Robertson K, Hood S, McGeoch R, McDade R, Sidik N, McCartney P, Corcoran D, Collison D, Rush C, McConnachie A, Touyz R, Oldroyd K, Berry C, Gazdagh G, Diver L, Marshall J, McGowan R, Ahmed F; DDD Study, Tobias E, Curtis E, Parsons C, Maslin K, D'Angelo S, Moon R, Crozier S, Gossiel F, Bishop N, Kennedy S, Papageorghiou A, Fraser R, Gandhi S, Prentice A, Inskip H, Godfrey K, Schoenmakers I, Javaid MK, Eastell R, Cooper C, Harvey N, Watt ER, Howden A, Mirchandani A, Coelho P, Hukelmann JL, Sadiku P, Plant TM, Cantrell DA, Whyte MKB, Walmsley SR, Mordi I, Forteath C, Wong A, Mohan M, Palmer C, Doney A, Rena G, Lang C, Gray EH, Azarian S, Riva A, Edwards H, McPhail MJW, Williams R, Chokshi S, Patel VC, Edwards LA, Page D, Miossec M, Williams S, Monaghan R, Fotiou E; CHANGE Study Collaborators, CheartED Study Collaborators, Santibanez-Koref M, Keavney B, Badat M, Mettananda S, Hua P, Schwessinger R, Hughes J, Higgs D, Davies J.

QJM. 2019 Sep 1;112(9):724-729. doi: 10.1093/qjmed/hcz175. No abstract available.


A new paradigm for delivering personalised care: integrating genetics with surgical interventions in BEST1 mutations.

Low S, Mohamed R, Davidson A, Papadopoulos M, Grassi P, Webster AR, Black GC, Foster PJ, Garway-Heath DF, Bloom PA.

Eye (Lond). 2019 Aug 27. doi: 10.1038/s41433-019-0553-5. [Epub ahead of print]


Implementation of a Digitally Enabled Care Pathway (Part 2): Qualitative Analysis of Experiences of Health Care Professionals.

Connell A, Black G, Montgomery H, Martin P, Nightingale C, King D, Karthikesalingam A, Hughes C, Back T, Ayoub K, Suleyman M, Jones G, Cross J, Stanley S, Emerson M, Merrick C, Rees G, Laing C, Raine R.

J Med Internet Res. 2019 Jul 15;21(7):e13143. doi: 10.2196/13143.


Influence of doctor-patient conversations on behaviours of patients presenting to primary care with new or persistent symptoms: a video observation study.

Amelung D, Whitaker KL, Lennard D, Ogden M, Sheringham J, Zhou Y, Walter FM, Singh H, Vincent C, Black G.

BMJ Qual Saf. 2019 Jul 20. pii: bmjqs-2019-009485. doi: 10.1136/bmjqs-2019-009485. [Epub ahead of print]


Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentis.

Kulkarni N, Lloyd IC, Ashworth J, Biswas S, Black GCM, Clayton-Smith J; NIHR BioResource Consortium.

Clin Dysmorphol. 2019 Oct;28(4):184-189. doi: 10.1097/MCD.0000000000000287.


Preperitoneal balloon tamponade and resuscitative endovascular balloon occlusion of the aorta: Alternatives to open packing for pelvic fracture-associated hemorrhage.

Do WS, Forte DM, Sheldon RR, Weiss JB, Barron MR, Sokol KK, Black GE, Hegge SR, Eckert MJ, Martin MJ.

J Trauma Acute Care Surg. 2019 Jul;87(1):18-26. doi: 10.1097/TA.0000000000002266.


Analyzing a broader spectrum of endocrine active organic contaminants in sewage sludge with high resolution LC-QTOF-MS suspect screening and QSAR toxicity prediction.

Black GP, Anumol T, Young TM.

Environ Sci Process Impacts. 2019 Jul 17;21(7):1099-1114. doi: 10.1039/c9em00144a.


Germline selection shapes human mitochondrial DNA diversity.

Wei W, Tuna S, Keogh MJ, Smith KR, Aitman TJ, Beales PL, Bennett DL, Gale DP, Bitner-Glindzicz MAK, Black GC, Brennan P, Elliott P, Flinter FA, Floto RA, Houlden H, Irving M, Koziell A, Maher ER, Markus HS, Morrell NW, Newman WG, Roberts I, Sayer JA, Smith KGC, Taylor JC, Watkins H, Webster AR, Wilkie AOM, Williamson C; NIHR BioResource–Rare Diseases; 100,000 Genomes Project–Rare Diseases Pilot, Ashford S, Penkett CJ, Stirrups KE, Rendon A, Ouwehand WH, Bradley JR, Raymond FL, Caulfield M, Turro E, Chinnery PF.

Science. 2019 May 24;364(6442). pii: eaau6520. doi: 10.1126/science.aau6520. Epub 2019 May 23.


Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.

Garnai SJ, Brinkmeier ML, Emery B, Aleman TS, Pyle LC, Veleva-Rotse B, Sisk RA, Rozsa FW, Ozel AB, Li JZ, Moroi SE, Archer SM, Lin CM, Sheskey S, Wiinikka-Buesser L, Eadie J, Urquhart JE, Black GCM, Othman MI, Boehnke M, Sullivan SA, Skuta GL, Pawar HS, Katz AE, Huryn LA, Hufnagel RB; Genomic Ascertainment Cohort, Camper SA, Richards JE, Prasov L.

PLoS Genet. 2019 May 2;15(5):e1008130. doi: 10.1371/journal.pgen.1008130. eCollection 2019 May.


Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms.

Redwood A, Douzgou S, Waller S, Ramsden S, Roberts A, Bonin H, Lloyd IC, Ashworth J, Black GCM, Clayton-Smith J.

Eur J Med Genet. 2019 Apr 30:103658. doi: 10.1016/j.ejmg.2019.04.015. [Epub ahead of print]


Outcomes of Micra leadless pacemaker implantation with uninterrupted anticoagulation.

Kiani S, Black GB, Rao B, Thakkar N, Massad C, Patel AV, Merchant FM, Hoskins MH, De Lurgio DB, Patel AM, Shah AD, Leon AR, Westerman SB, Lloyd MS, El-Chami MF.

J Cardiovasc Electrophysiol. 2019 Aug;30(8):1313-1318. doi: 10.1111/jce.13965. Epub 2019 May 16.


Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen.

Taylor RL, Poulter JA, Downes SM, McKibbin M, Khan KN, Inglehearn CF, Webster AR, Hardcastle AJ, Michaelides M, Bishop PN, Clark SJ, Black GC; United Kingdom Inherited Retinal Dystrophy Consortium.

Ophthalmology. 2019 Oct;126(10):1410-1421. doi: 10.1016/j.ophtha.2019.03.013. Epub 2019 Mar 21.


Exploring public attitudes towards the new Faster Diagnosis Standard for cancer: a focus group study with the UK public.

Piano M, Black G, Amelung D, Power E, Whitaker KL.

Br J Gen Pract. 2019 Jun;69(683):e413-e421. doi: 10.3399/bjgp19X702677. Epub 2019 Mar 11.


NAA10 polyadenylation signal variants cause syndromic microphthalmia.

Johnston JJ, Williamson KA, Chou CM, Sapp JC, Ansari M, Chapman HM, Cooper DN, Dabir T, Dudley JN, Holt RJ, Ragge NK, Schäffer AA, Sen SK, Slavotinek AM, FitzPatrick DR, Glaser TM, Stewart F, Black GC, Biesecker LG.

J Med Genet. 2019 Jul;56(7):444-452. doi: 10.1136/jmedgenet-2018-105836. Epub 2019 Mar 6.


Global birth prevalence of congenital heart defects 1970-2017: updated systematic review and meta-analysis of 260 studies.

Liu Y, Chen S, Zühlke L, Black GC, Choy MK, Li N, Keavney BD.

Int J Epidemiol. 2019 Apr 1;48(2):455-463. doi: 10.1093/ije/dyz009.


The psychosocial and service delivery impact of genomic testing for inherited retinal dystrophies.

McVeigh E, Jones H, Black G, Hall G.

J Community Genet. 2019 Jul;10(3):425-434. doi: 10.1007/s12687-019-00406-x. Epub 2019 Jan 24.


Minimally invasive preperitoneal balloon tamponade and abdominal aortic junctional tourniquet versus open packing for pelvic fracture-associated hemorrhage: Not all extrinsic compression is equal.

Do WS, Forte DM, Sheldon RR, Weiss JB, Barron MR, Sokol KK, Black GE, Hegge SR, Eckert MJ, Martin MJ.

J Trauma Acute Care Surg. 2019 Apr;86(4):625-634. doi: 10.1097/TA.0000000000002203.


Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.

Page DJ, Miossec MJ, Williams SG, Monaghan RM, Fotiou E, Cordell HJ, Sutcliffe L, Topf A, Bourgey M, Bourque G, Eveleigh R, Dunwoodie SL, Winlaw DS, Bhattacharya S, Breckpot J, Devriendt K, Gewillig M, Brook JD, Setchfield KJ, Bu'Lock FA, O'Sullivan J, Stuart G, Bezzina CR, Mulder BJM, Postma AV, Bentham JR, Baron M, Bhaskar SS, Black GC, Newman WG, Hentges KE, Lathrop GM, Santibanez-Koref M, Keavney BD.

Circ Res. 2019 Feb 15;124(4):553-563. doi: 10.1161/CIRCRESAHA.118.313250.


Beneficial effects on vision in patients undergoing retinal gene therapy for choroideremia.

Xue K, Jolly JK, Barnard AR, Rudenko A, Salvetti AP, Patrício MI, Edwards TL, Groppe M, Orlans HO, Tolmachova T, Black GC, Webster AR, Lotery AJ, Holder GE, Downes SM, Seabra MC, MacLaren RE.

Nat Med. 2018 Oct;24(10):1507-1512. doi: 10.1038/s41591-018-0185-5. Epub 2018 Oct 8.


Macular spatial distribution of preserved autofluorescence in patients with choroideremia.

Hariri AH, Ip MS, Girach A, Lam BL, Fischer MD, Sankila EM, Pennesi ME, Holz FG, Maclaren RE, Birch DG, Hoyng CB, MacDonald IM, Black GC, Tsang SH, Bressler NM, Stepien KE, Larsen M, Gorin MB, Meunier I, Webster AR, Sadda S; For Natural History of the Progression of Choroideremia (NIGHT) Study Group.

Br J Ophthalmol. 2019 Jul;103(7):933-937. doi: 10.1136/bjophthalmol-2018-312620. Epub 2018 Oct 8.


Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts.

Ansar M, Chung HL, Taylor RL, Nazir A, Imtiaz S, Sarwar MT, Manousopoulou A, Makrythanasis P, Saeed S, Falconnet E, Guipponi M, Pournaras CJ, Ansari MA, Ranza E, Santoni FA, Ahmed J, Shah I, Gul K, Black GC, Bellen HJ, Antonarakis SE.

Am J Hum Genet. 2018 Oct 4;103(4):568-578. doi: 10.1016/j.ajhg.2018.09.004.


GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay.

Rumping L, Tessadori F, Pouwels PJW, Vringer E, Wijnen JP, Bhogal AA, Savelberg SMC, Duran KJ, Bakkers MJG, Ramos RJJ, Schellekens PAW, Kroes HY, Klomp DWJ, Black GCM, Taylor RL, Bakkers JPW, Prinsen HCMT, van der Knaap MS, Dansen TB, Rehmann H, Zwartkruis FJT, Houwen RHJ, van Haaften G, Verhoeven-Duif NM, Jans JJM, van Hasselt PM.

Hum Mol Genet. 2019 Jan 1;28(1):96-104. doi: 10.1093/hmg/ddy330.


Same-sex-attracted adolescents in rural Australia: stressors, depression and suicidality, and barriers to seeking mental health support.

Roberts R, Black G, Hart T.

Rural Remote Health. 2018 Jul;18(3):4364. doi: 10.22605/RRH4364. Epub 2018 Jul 30.


Comparison of Antibacterial and Immunological Properties of Mesenchymal Stem/Stromal Cells from Equine Bone Marrow, Endometrium, and Adipose Tissue.

Cortés-Araya Y, Amilon K, Rink BE, Black G, Lisowski Z, Donadeu FX, Esteves CL.

Stem Cells Dev. 2018 Nov 1;27(21):1518-1525. doi: 10.1089/scd.2017.0241. Epub 2018 Sep 6.


Persuasion, Adaptation, and Double Identity: Qualitative Study on the Psychological Impact of a Screen-Detected Colorectal Cancer Diagnosis.

McGregor LM, Tookey S, Raine R, von Wagner C, Black G.

Gastroenterol Res Pract. 2018 Jun 7;2018:1275329. doi: 10.1155/2018/1275329. eCollection 2018.


Proteomics and bioinformatics analyses identify novel cellular roles outside mitochondrial function for human miro GTPases.

Kay LJ, Sangal V, Black GW, Soundararajan M.

Mol Cell Biochem. 2019 Jan;451(1-2):21-35. doi: 10.1007/s11010-018-3389-6. Epub 2018 Jun 25.


Structural Insights from Molecular Dynamics Simulations of Tryptophan 7-Halogenase and Tryptophan 5-Halogenase.

Ainsley J, Mulholland AJ, Black GW, Sparagano O, Christov CZ, Karabencheva-Christova TG.

ACS Omega. 2018 May 2;3(5):4847-4859. doi: 10.1021/acsomega.8b00385. eCollection 2018 May 31.


Ethical challenges in developing an educational video to empower potential participants during consent processes in HIV cure research in South Africa.

Staunton C, de Roubaix M, Baatjies D, Black G, Hendricks M, Rossouw T, Moodley K.

J Virus Erad. 2018 Apr 1;4(2):99-102.


Applied Sport Science of Australian Football: A Systematic Review.

Johnston RD, Black GM, Harrison PW, Murray NB, Austin DJ.

Sports Med. 2018 Jul;48(7):1673-1694. doi: 10.1007/s40279-018-0919-z.


Antidiabetic "gliptins" affect biofilm formation by Streptococcus mutans.

De A, Pompilio A, Francis J, Sutcliffe IC, Black GW, Lupidi G, Petrelli D, Vitali LA.

Microbiol Res. 2018 Apr;209:79-85. doi: 10.1016/j.micres.2018.02.005. Epub 2018 Feb 19.


Unique case of gyrate atrophy with a well-preserved electroretinogram (ERG).

Jasani KM, Parry NRA, Black G, Kelly SP.

BMJ Case Rep. 2018 Feb 5;2018. pii: bcr-2016-217556. doi: 10.1136/bcr-2016-217556.


Reflections on the ethics of participatory visual methods to engage communities in global health research.

Black GF, Davies A, Iskander D, Chambers M.

Glob Bioeth. 2017 Dec 20;29(1):22-38. doi: 10.1080/11287462.2017.1415722. eCollection 2018.


Understanding Miro GTPases: Implications in the Treatment of Neurodegenerative Disorders.

Kay L, Pienaar IS, Cooray R, Black G, Soundararajan M.

Mol Neurobiol. 2018 Sep;55(9):7352-7365. doi: 10.1007/s12035-018-0927-x. Epub 2018 Feb 6. Review.


C-reactive protein and pentraxin-3 binding of factor H-like protein 1 differs from complement factor H: implications for retinal inflammation.

Swinkels M, Zhang JH, Tilakaratna V, Black G, Perveen R, McHarg S, Inforzato A, Day AJ, Clark SJ.

Sci Rep. 2018 Jan 26;8(1):1643. doi: 10.1038/s41598-017-18395-7.


Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes.

Astuti GDN, van den Born LI, Khan MI, Hamel CP, Bocquet B, Manes G, Quinodoz M, Ali M, Toomes C, McKibbin M, El-Asrag ME, Haer-Wigman L, Inglehearn CF, Black GCM, Hoyng CB, Cremers FPM, Roosing S.

Genes (Basel). 2018 Jan 10;9(1). pii: E21. doi: 10.3390/genes9010021.


Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.

Ellingford JM, Horn B, Campbell C, Arno G, Barton S, Tate C, Bhaskar S, Sergouniotis PI, Taylor RL, Carss KJ, Raymond LFL, Michaelides M, Ramsden SC, Webster AR, Black GCM.

J Med Genet. 2018 Feb;55(2):114-121. doi: 10.1136/jmedgenet-2017-104791. Epub 2017 Oct 26.


The Influence of Physical Qualities on Activity Profiles of Female Australian Football Match Play.

Black GM, Gabbett TJ, Johnston RD, Cole MH, Naughton G, Dawson B.

Int J Sports Physiol Perform. 2018 Apr 1;13(4):524-529. doi: 10.1123/ijspp.2016-0723. Epub 2018 May 25.


Age- and sex-related effects in children with mild traumatic brain injury on diffusion magnetic resonance imaging properties: A comparison of voxelwise and tractography methods.

Goodrich-Hunsaker NJ, Abildskov TJ, Black G, Bigler ED, Cohen DM, Mihalov LK, Bangert BA, Taylor HG, Yeates KO.

J Neurosci Res. 2018 Apr;96(4):626-641. doi: 10.1002/jnr.24142. Epub 2017 Oct 6.


Impact of a novel phosphoinositol-3 kinase inhibitor in preventing mitochondrial DNA damage and damage-associated molecular pattern accumulation: Results from the Biochronicity Project.

Black GE, Sokol KK, Moe DM, Simmons JD, Muscat D, Pastukh V, Capley G, Gorodnya O, Ruchko M, Roth MB, Gillespie M, Martin MJ.

J Trauma Acute Care Surg. 2017 Oct;83(4):683-689. doi: 10.1097/TA.0000000000001593.


The Influence of Rotations on Match Running Performance in Female Australian Football Midfielders.

Black GM, Gabbett TJ, Johnston RD, Naughton G, Cole MH, Dawson B.

Int J Sports Physiol Perform. 2018 Apr 1;13(4):434-441. doi: 10.1123/ijspp.2017-0175. Epub 2018 May 11.


The Influence of Contextual Factors on Running Performance in Female Australian Football Match-Play.

Black GM, Gabbett TJ, Naughton G, Cole MH, Johnston RD, Dawson B.

J Strength Cond Res. 2019 Sep;33(9):2488-2495. doi: 10.1519/JSC.0000000000002142.


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