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Items: 1 to 20 of 112

1.

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.

2.

Adductor canal versus femoral triangle anatomical locations for continuous catheter analgesia after total knee arthroplasty: a multicentre randomised controlled study.

Chuan A, Lansdown A, Brick KL, Bourgeois AJG, Pencheva LB, Hue B, Goddard S, Lennon MJ, Walters A, Auyong D; Continuous Catheters in Adductor Canal versus Femoral Triangle (The CAFE study) investigators.

Br J Anaesth. 2019 May 2. pii: S0007-0912(19)30225-9. doi: 10.1016/j.bja.2019.03.021. [Epub ahead of print]

PMID:
31056239
3.

Prevalence, incidence and predictors of anal Chlamydia trachomatis, anal Neisseria gonorrhoeae and syphilis among older gay and bisexual men in the longitudinal Study for the Prevention of Anal Cancer (SPANC).

Goddard SL, Poynten IM, Petoumenous K, Jin F, Hillman RJ, Law C, Roberts JM, Fairley CK, Garland SM, Grulich AE, Templeton DJ; Study for the Prevention of Anal Cancer (SPANC) Research Team.

Sex Transm Infect. 2019 Apr 24. pii: sextrans-2019-054011. doi: 10.1136/sextrans-2019-054011. [Epub ahead of print]

PMID:
31018992
4.

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource, Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA.

Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11.

PMID:
30982612
5.

Assessment of technical parameters and skills training to inform a simulation-based training program for semi-automated robotic colonoscopy.

Kopczynska M, Smits S, Hopps R, Ramaraj R, Warren N, Goddard S, Ye X, Dolwani S.

Endosc Int Open. 2019 Jan;7(1):E9-E14. doi: 10.1055/a-0774-4554. Epub 2019 Jan 3.

6.

Association of anal symptoms with anal high grade squamous intraepithelial lesions (HSIL) among men who have sex with men: Baseline data from the study of the prevention of anal cancer (SPANC).

Goddard SL, Templeton DJ, Petoumenos K, Jin F, Hillman RJ, Law C, Roberts JM, Fairley CK, Garland SM, Grulich AE, Poynten IM; Study for the Prevention of Anal Cancer (SPANC) Research Team.

Cancer Epidemiol. 2019 Feb;58:12-16. doi: 10.1016/j.canep.2018.10.009. Epub 2018 Nov 12.

PMID:
30439602
7.

Publisher Correction: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.

Farmery JHR, Smith ML; NIHR BioResource - Rare Diseases, Lynch AG.

Sci Rep. 2018 Sep 3;8(1):13376. doi: 10.1038/s41598-018-31524-0.

8.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.

Ito Y, Carss KJ, Duarte ST, Hartley T, Keren B, Kurian MA, Marey I, Charles P, Mendonça C, Nava C, Pfundt R, Sanchis-Juan A, van Bokhoven H, van Essen A, van Ravenswaaij-Arts C; NIHR BioResource; Care4Rare Canada Consortium, Boycott KM, Kernohan KD, Dyack S, Raymond FL.

Am J Hum Genet. 2018 Jul 5;103(1):144-153. doi: 10.1016/j.ajhg.2018.06.001. Epub 2018 Jun 28.

9.

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.

Whitworth J, Smith PS, Martin JE, West H, Luchetti A, Rodger F, Clark G, Carss K, Stephens J, Stirrups K, Penkett C, Mapeta R, Ashford S, Megy K, Shakeel H, Ahmed M, Adlard J, Barwell J, Brewer C, Casey RT, Armstrong R, Cole T, Evans DG, Fostira F, Greenhalgh L, Hanson H, Henderson A, Hoffman J, Izatt L, Kumar A, Kwong A, Lalloo F, Ong KR, Paterson J, Park SM, Chen-Shtoyerman R, Searle C, Side L, Skytte AB, Snape K, Woodward ER; NIHR BioResource Rare Diseases Consortium, Tischkowitz MD, Maher ER.

Am J Hum Genet. 2018 Jul 5;103(1):3-18. doi: 10.1016/j.ajhg.2018.04.013. Epub 2018 Jun 14.

10.

An animal tissue simulation assessing three directional displacement forces on five common tracheostomy securing techniques.

Yap D, Goddard S, Ng M, Al-Hussaini A, Owens D.

Ann R Coll Surg Engl. 2018 Jul;100(6):459-463. doi: 10.1308/rcsann.2018.0069. Epub 2018 Apr 25.

11.

Plasma Vascular Endothelial Growth Factor Concentrations after Intravitreous Anti-Vascular Endothelial Growth Factor Therapy for Diabetic Macular Edema.

Jampol LM, Glassman AR, Liu D, Aiello LP, Bressler NM, Duh EJ, Quaggin S, Wells JA, Wykoff CC; Diabetic Retinopathy Clinical Research Network.

Ophthalmology. 2018 Jul;125(7):1054-1063. doi: 10.1016/j.ophtha.2018.01.019. Epub 2018 Mar 7.

12.

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans.

Tuijnenburg P, Lango Allen H, Burns SO, Greene D, Jansen MH, Staples E, Stephens J, Carss KJ, Biasci D, Baxendale H, Thomas M, Chandra A, Kiani-Alikhan S, Longhurst HJ, Seneviratne SL, Oksenhendler E, Simeoni I, de Bree GJ, Tool ATJ, van Leeuwen EMM, Ebberink EHTM, Meijer AB, Tuna S, Whitehorn D, Brown M, Turro E, Thrasher AJ, Smith KGC, Thaventhiran JE, Kuijpers TW; NIHR BioResource–Rare Diseases Consortium.

J Allergy Clin Immunol. 2018 Oct;142(4):1285-1296. doi: 10.1016/j.jaci.2018.01.039. Epub 2018 Mar 2.

13.

The Randomized Educational Acute Respiratory Distress Syndrome Diagnosis Study: A Trial to Improve the Radiographic Diagnosis of Acute Respiratory Distress Syndrome.

Goddard SL, Rubenfeld GD, Manoharan V, Dev SP, Laffey J, Bellani G, Pham T, Fan E.

Crit Care Med. 2018 May;46(5):743-748. doi: 10.1097/CCM.0000000000003000.

PMID:
29438110
14.

Barriers and facilitators to early rehabilitation in mechanically ventilated patients-a theory-driven interview study.

Goddard SL, Lorencatto F, Koo E, Rose L, Fan E, Kho ME, Needham DM, Rubenfeld GD, Francis JJ, Cuthbertson BH.

J Intensive Care. 2018 Jan 23;6:4. doi: 10.1186/s40560-018-0273-0. eCollection 2018.

15.

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.

Farmery JHR, Smith ML; NIHR BioResource - Rare Diseases, Lynch AG.

Sci Rep. 2018 Jan 22;8(1):1300. doi: 10.1038/s41598-017-14403-y. Erratum in: Sci Rep. 2018 Sep 3;8(1):13376.

16.

Mapping the Paediatric Quality of Life Inventory (PedsQL™) Generic Core Scales onto the Child Health Utility Index-9 Dimension (CHU-9D) Score for Economic Evaluation in Children.

Lambe T, Frew E, Ives NJ, Woolley RL, Cummins C, Brettell EA, Barsoum EN, Webb NJA; PREDNOS Trial Team.

Pharmacoeconomics. 2018 Apr;36(4):451-465. doi: 10.1007/s40273-017-0600-7.

PMID:
29264866
17.

A porcine model for teaching laparoscopic appendicectomy.

Goddard SG, Warren N.

Ann R Coll Surg Engl. 2018 Apr;100(4):338-339. doi: 10.1308/rcsann.2017.0136. Epub 2017 Sep 13. No abstract available.

18.

Substantial increase in yield of Neisseria gonorrhoeae testing 2008-2013 at a Sydney metropolitan sexual health clinic: an observational study.

Rajagopal P, Goddard SL, Templeton DJ.

Sex Health. 2018 Feb;15(1):79-82. doi: 10.1071/SH17080.

PMID:
29021080
19.

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension.

Hadinnapola C, Bleda M, Haimel M, Screaton N, Swift A, Dorfmüller P, Preston SD, Southwood M, Hernandez-Sanchez J, Martin J, Treacy C, Yates K, Bogaard H, Church C, Coghlan G, Condliffe R, Corris PA, Gibbs S, Girerd B, Holden S, Humbert M, Kiely DG, Lawrie A, Machado R, MacKenzie Ross R, Moledina S, Montani D, Newnham M, Peacock A, Pepke-Zaba J, Rayner-Matthews P, Shamardina O, Soubrier F, Southgate L, Suntharalingam J, Toshner M, Trembath R, Vonk Noordegraaf A, Wilkins MR, Wort SJ, Wharton J; NIHR BioResource–Rare Diseases Consortium; UK National Cohort Study of Idiopathic and Heritable PAH, Gräf S, Morrell NW.

Circulation. 2017 Nov 21;136(21):2022-2033. doi: 10.1161/CIRCULATIONAHA.117.028351. Epub 2017 Sep 28.

20.

Benefits and harms of early rehabilitation.

Cuthbertson BH, Goddard S.

Intensive Care Med. 2017 Dec;43(12):1878-1880. doi: 10.1007/s00134-017-4904-z. Epub 2017 Aug 24. No abstract available.

PMID:
28840265

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