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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 Jul 3. doi: 10.1097/MCD.0000000000000287. [Epub ahead of print]


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. pii: S1769-7212(18)30911-X. 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 May 2. doi: 10.1111/jce.13965. [Epub ahead of print]


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 Mar 21. pii: S0161-6420(18)33171-3. doi: 10.1016/j.ophtha.2019.03.013. [Epub ahead of print]


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 Feb 19. pii: dyz009. doi: 10.1093/ije/dyz009. [Epub ahead of print]


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.


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. 2017 Jul 12. doi: 10.1519/JSC.0000000000002142. [Epub ahead of print]


Fluorogenic kinetic assay for high-throughput discovery of stereoselective ketoreductases relevant to pharmaceutical synthesis.

Thai YC, Szekrenyi A, Qi Y, Black GW, Charnock SJ, Fessner WD.

Bioorg Med Chem. 2018 Apr 1;26(7):1320-1326. doi: 10.1016/j.bmc.2017.05.024. Epub 2017 May 13.


Measurement and Reproducibility of Preserved Ellipsoid Zone Area and Preserved Retinal Pigment Epithelium Area in Eyes With Choroideremia.

Hariri AH, Velaga SB, Girach A, Ip MS, Le PV, Lam BL, Fischer MD, Sankila EM, Pennesi ME, Holz FG, MacLaren RE, Birch DG, Hoyng CB, MacDonald IM, Black GC, Tsang SH, Bressler NM, Larsen M, Gorin MB, Webster AR, Sadda SR; Natural History of the Progression of Choroideremia (NIGHT) Study Group.

Am J Ophthalmol. 2017 Jul;179:110-117. doi: 10.1016/j.ajo.2017.05.002. Epub 2017 May 10.


The effect of Maillard reaction products and yeast strain on the synthesis of key higher alcohols and esters in beer fermentations.

Dack RE, Black GW, Koutsidis G, Usher SJ.

Food Chem. 2017 Oct 1;232:595-601. doi: 10.1016/j.foodchem.2017.04.043. Epub 2017 Apr 7.


Next-generation sequencing targeted disease panel in rod-cone retinal dystrophies in Māori and Polynesian reveals novel changes and a common founder mutation.

Vincent AL, Abeysekera N, van Bysterveldt KA, Oliver VF, Ellingford JM, Barton S, Black GC.

Clin Exp Ophthalmol. 2017 Dec;45(9):901-910. doi: 10.1111/ceo.12983. Epub 2017 Jun 13.


Validation of copy number variation analysis for next-generation sequencing diagnostics.

Ellingford JM, Campbell C, Barton S, Bhaskar S, Gupta S, Taylor RL, Sergouniotis PI, Horn B, Lamb JA, Michaelides M, Webster AR, Newman WG, Panda B, Ramsden SC, Black GC.

Eur J Hum Genet. 2017 Jun;25(6):719-724. doi: 10.1038/ejhg.2017.42. Epub 2017 Apr 5.


Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.

Taylor RL, Parry NRA, Barton SJ, Campbell C, Delaney CM, Ellingford JM, Hall G, Hardcastle C, Morarji J, Nichol EJ, Williams LC, Douzgou S, Clayton-Smith J, Ramsden SC, Sharma V, Biswas S, Lloyd IC, Ashworth JL, Black GC, Sergouniotis PI.

Ophthalmology. 2017 Jul;124(7):985-991. doi: 10.1016/j.ophtha.2017.02.005. Epub 2017 Mar 22.


Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.

Pontikos N, Yu J, Moghul I, Withington L, Blanco-Kelly F, Vulliamy T, Wong TLE, Murphy C, Cipriani V, Fiorentino A, Arno G, Greene D, Jacobsen JOB, Clark T, Gregory DS, Nemeth AM, Halford S, Inglehearn CF, Downes S, Black GC, Webster AR, Hardcastle AJ; UKIRDC, Plagnol V.

Bioinformatics. 2017 Aug 1;33(15):2421-2423. doi: 10.1093/bioinformatics/btx147.


Exploring the feasibility of delivering standardized genomic care using ophthalmology as an example.

Davison N, Payne K, Eden M, McAllister M, Roberts SA, Ingram S, Black GCM, Hall G.

Genet Med. 2017 Sep;19(9):1032-1039. doi: 10.1038/gim.2017.9. Epub 2017 Mar 16.


Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.

Taylor RL, Arno G, Poulter JA, Khan KN, Morarji J, Hull S, Pontikos N, Rueda Martin A, Smith KR, Ali M, Toomes C, McKibbin M, Clayton-Smith J, Grunewald S, Michaelides M, Moore AT, Hardcastle AJ, Inglehearn CF, Webster AR, Black GC; UK Inherited Retinal Disease Consortium and the 100,000 Genomes Project.

JAMA Ophthalmol. 2017 Apr 1;135(4):339-347. doi: 10.1001/jamaophthalmol.2017.0046.


Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.

Bedoni N, Haer-Wigman L, Vaclavik V, Tran VH, Farinelli P, Balzano S, Royer-Bertrand B, El-Asrag ME, Bonny O, Ikonomidis C, Litzistorf Y, Nikopoulos K, Yioti GG, Stefaniotou MI, McKibbin M, Booth AP, Ellingford JM, Black GC, Toomes C, Inglehearn CF, Hoyng CB, Bax N, Klaver CC, Thiadens AA, Murisier F, Schorderet DF, Ali M, Cremers FP, Andréasson S, Munier FL, Rivolta C.

Hum Mol Genet. 2016 Oct 15;25(20):4546-4555. doi: 10.1093/hmg/ddw282.


Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.

Taylor RL, Handley MT, Waller S, Campbell C, Urquhart J, Meynert AM, Ellingford JM, Donnelly D, Wilcox G, Lloyd IC, Mundy H, FitzPatrick DR, Deshpande C, Clayton-Smith J, Black GC.

Invest Ophthalmol Vis Sci. 2017 Jan 1;58(1):594-603. doi: 10.1167/iovs.16-21026.


An Unusual Retinal Phenotype Associated With a Mutation in Sterol Carrier Protein SCP2.

Morarji J, Gillespie R, Sergouniotis PI, Horvath R, Black GCM.

JAMA Ophthalmol. 2017 Feb 1;135(2):167-169. doi: 10.1001/jamaophthalmol.2016.4985. No abstract available.


Improving diagnosis for congenital cataract by introducing NGS genetic testing.

Musleh M, Ashworth J, Black G, Hall G.

BMJ Qual Improv Rep. 2016 Sep 19;5(1). pii: u211094.w4602. eCollection 2016.


Supervised learning technique for the automated identification of white matter hyperintensities in traumatic brain injury.

Stone JR, Wilde EA, Taylor BA, Tate DF, Levin H, Bigler ED, Scheibel RS, Newsome MR, Mayer AR, Abildskov T, Black GM, Lennon MJ, York GE, Agarwal R, DeVillasante J, Ritter JL, Walker PB, Ahlers ST, Tustison NJ.

Brain Inj. 2016;30(12):1458-1468.


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