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Items: 1 to 50 of 129

1.

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.

2.

Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes.

Beygo J, Buiting K, Ramsden SC, Ellis R, Clayton-Smith J, Kanber D.

Eur J Hum Genet. 2019 Sep;27(9):1326-1340. doi: 10.1038/s41431-019-0435-0. Epub 2019 Jun 24.

3.

The genetic aetiology of retinal degeneration in children in Finland - new founder mutations identified.

Avela K, Salonen-Kajander R, Laitinen A, Ramsden S, Barton S, Rudanko SL.

Acta Ophthalmol. 2019 Dec;97(8):805-814. doi: 10.1111/aos.14128. Epub 2019 May 14.

PMID:
31087526
4.

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]

PMID:
31048080
5.

First Aid and Voluntarism in England, 1945-85.

Ramsden S, Cresswell R.

20 Century Br Hist. 2019 Feb 3. doi: 10.1093/tcbh/hwy043. [Epub ahead of print]

PMID:
30715547
6.

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.

Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER; Prenatal Assessment of Genomes and Exomes Consortium.

Lancet. 2019 Feb 23;393(10173):747-757. doi: 10.1016/S0140-6736(18)31940-8. Epub 2019 Jan 31.

7.

Interventions for reducing levels of burden amongst informal carers of persons with dementia in the community. A systematic review and meta-analysis of randomised controlled trials.

Williams F, Moghaddam N, Ramsden S, De Boos D.

Aging Ment Health. 2019 Dec;23(12):1629-1642. doi: 10.1080/13607863.2018.1515886. Epub 2018 Nov 18.

PMID:
30450915
8.

Drug use in street sex workers (DUSSK) study protocol: a feasibility and acceptability study of a complex intervention to reduce illicit drug use in drug-dependent female street sex workers.

Jeal N, Patel R, Redmond NM, Kesten JM, Ramsden S, Macleod J, Coast J, Telfer M, Wilcox D, Nowland G, Horwood J.

BMJ Open. 2018 Nov 3;8(11):e022728. doi: 10.1136/bmjopen-2018-022728.

9.

Integrating the economic and environmental performance of agricultural systems: A demonstration using Farm Business Survey data and Farmscoper.

Lynch J, Skirvin D, Wilson P, Ramsden S.

Sci Total Environ. 2018 Jul 1;628-629:938-946. doi: 10.1016/j.scitotenv.2018.01.256. Epub 2018 Feb 20.

PMID:
30045582
10.

A sibling pair with cardiofaciocutaneous syndrome (CFC) secondary to BRAF mutation with unaffected parents-the first cases of gonadal mosaicism in CFC?

Geoghegan S, King G, Henchliffe J, Ramsden SC, Barry RJ, Green AJ, O'Connell SM.

Am J Med Genet A. 2018 Jul;176(7):1637-1640. doi: 10.1002/ajmg.a.38725. Epub 2018 Apr 28.

PMID:
29704308
11.

Positional Differences in Running and Nonrunning Activities During Elite American Football Training.

Ward PA, Ramsden S, Coutts AJ, Hulton AT, Drust B.

J Strength Cond Res. 2018 Jul;32(7):2072-2084. doi: 10.1519/JSC.0000000000002294.

PMID:
29176385
12.

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.

13.

High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa.

Bellingrath JS, Ochakovski GA, Seitz IP, Kohl S, Zrenner E, Hanig N, Prokisch H, Weber BH, Downes SM, Ramsden S, MacLaren RE, Fischer MD.

Invest Ophthalmol Vis Sci. 2017 Sep 1;58(11):4457-4466. doi: 10.1167/iovs.17-22077.

PMID:
28863407
14.

Codon-Optimized RPGR Improves Stability and Efficacy of AAV8 Gene Therapy in Two Mouse Models of X-Linked Retinitis Pigmentosa.

Fischer MD, McClements ME, Martinez-Fernandez de la Camara C, Bellingrath JS, Dauletbekov D, Ramsden SC, Hickey DG, Barnard AR, MacLaren RE.

Mol Ther. 2017 Aug 2;25(8):1854-1865. doi: 10.1016/j.ymthe.2017.05.005. Epub 2017 May 24.

15.

Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.

Ghosh A, Schlecht H, Heptinstall LE, Bassett JK, Cartwright E, Bhaskar SS, Urquhart J, Broomfield A, Morris AA, Jameson E, Schwahn BC, Walter JH, Douzgou S, Murphy H, Hendriksz C, Sharma R, Wilcox G, Crushell E, Monavari AA, Martin R, Doolan A, Senniappan S, Ramsden SC, Jones SA, Banka S.

Arch Dis Child. 2017 Nov;102(11):1019-1029. doi: 10.1136/archdischild-2017-312738. Epub 2017 May 3.

PMID:
28468868
16.

Right hemisphere structural adaptation and changing language skills years after left hemisphere stroke.

Hope TMH, Leff AP, Prejawa S, Bruce R, Haigh Z, Lim L, Ramsden S, Oberhuber M, Ludersdorfer P, Crinion J, Seghier ML, Price CJ.

Brain. 2017 Jun 1;140(6):1718-1728. doi: 10.1093/brain/awx086.

17.

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.

18.

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.

PMID:
28341476
19.

Green tea polyphenols require the mitochondrial iron transporter, mitoferrin, for lifespan extension in Drosophila melanogaster.

Lopez TE, Pham HM, Nguyen BV, Tahmasian Y, Ramsden S, Coskun V, Schriner SE, Jafari M.

Arch Insect Biochem Physiol. 2016 Dec;93(4):210-221. doi: 10.1002/arch.21353. Epub 2016 Oct 3.

20.

The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity.

Sergouniotis PI, Barton SJ, Waller S, Perveen R, Ellingford JM, Campbell C, Hall G, Gillespie RL, Bhaskar SS, Ramsden SC, Black GC, Lovell SC.

Orphanet J Rare Dis. 2016 Sep 14;11(1):125. doi: 10.1186/s13023-016-0505-0.

21.

How do we cultivate in England? Tillage practices in crop production systems.

Townsend TJ, Ramsden SJ, Wilson P.

Soil Use Manag. 2016 Mar;32(1):106-117. Epub 2015 Dec 11.

22.

Analysing reduced tillage practices within a bio-economic modelling framework.

Townsend TJ, Ramsden SJ, Wilson P.

Agric Syst. 2016 Jul;146:91-102.

23.

Molecular findings from 537 individuals with inherited retinal disease.

Ellingford JM, Barton S, Bhaskar S, O'Sullivan J, Williams SG, Lamb JA, Panda B, Sergouniotis PI, Gillespie RL, Daiger SP, Hall G, Gale T, Lloyd IC, Bishop PN, Ramsden SC, Black GCM.

J Med Genet. 2016 Nov;53(11):761-767. doi: 10.1136/jmedgenet-2016-103837. Epub 2016 May 11.

24.

Challenge for a new era-importance of ensuring accuracy of genotype in cystic fibrosis registries.

Hartley CL, Barry PJ, Green H, Henchliffe J, Brock J, Tobi SE, Ramsden SC, Horsley AR.

J Cyst Fibros. 2016 Sep;15(5):e50-1. doi: 10.1016/j.jcf.2016.03.003. Epub 2016 Apr 9. No abstract available.

25.

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.

Hull S, Owen N, Islam F, Tracey-White D, Plagnol V, Holder GE, Michaelides M, Carss K, Raymond FL, Rozet JM, Ramsden SC, Black GC, Perrault I, Sarkar A, Moosajee M, Webster AR, Arno G, Moore AT.

Invest Ophthalmol Vis Sci. 2016 Mar;57(3):1053-62. doi: 10.1167/iovs.15-17976.

PMID:
26968735
26.

Mathematical modelling of antimicrobial resistance in agricultural waste highlights importance of gene transfer rate.

Baker M, Hobman JL, Dodd CE, Ramsden SJ, Stekel DJ.

FEMS Microbiol Ecol. 2016 Apr;92(4):fiw040. doi: 10.1093/femsec/fiw040. Epub 2016 Feb 22.

PMID:
26906100
27.

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

Ellingford JM, Barton S, Bhaskar S, Williams SG, Sergouniotis PI, O'Sullivan J, Lamb JA, Perveen R, Hall G, Newman WG, Bishop PN, Roberts SA, Leach R, Tearle R, Bayliss S, Ramsden SC, Nemeth AH, Black GC.

Ophthalmology. 2016 May;123(5):1143-50. doi: 10.1016/j.ophtha.2016.01.009. Epub 2016 Feb 9.

28.

Multidrug resistant, extended spectrum β-lactamase (ESBL)-producing Escherichia coli isolated from a dairy farm.

Ibrahim DR, Dodd CE, Stekel DJ, Ramsden SJ, Hobman JL.

FEMS Microbiol Ecol. 2016 Apr;92(4):fiw013. doi: 10.1093/femsec/fiw013. Epub 2016 Feb 4.

PMID:
26850161
29.

Perceived barriers and facilitators to positive therapeutic change for people with intellectual disabilities: Client, carer and clinical psychologist perspectives.

Ramsden S, Tickle A, Dawson DL, Harris S.

J Intellect Disabil. 2016 Sep;20(3):241-62. doi: 10.1177/1744629515612627. Epub 2015 Oct 19.

PMID:
26483080
30.

A peer-led teaching initiative for foundation doctors.

Ramsden S, Abidogun A, Stringer E, Mahgoub S, Kastrissianakis A, Baker P.

Clin Teach. 2015 Aug;12(4):236-40. doi: 10.1111/tct.12297. Epub 2015 Jun 24.

PMID:
26109008
31.

Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome.

Ellingford JM, Sergouniotis PI, Lennon R, Bhaskar S, Williams SG, Hillman KA, O'Sullivan J, Hall G, Ramsden SC, Lloyd IC, Woolf AS, Black GC.

Lancet. 2015 May 9;385(9980):1916. doi: 10.1016/S0140-6736(15)60496-2. No abstract available.

PMID:
25987160
32.

Unification and classification of two-dimensional crystalline patterns using orbifolds.

Hyde ST, Ramsden SJ, Robins V.

Acta Crystallogr A Found Adv. 2014 Jul;70(Pt 4):319-37. doi: 10.1107/S205327331400549X. Epub 2014 May 28.

PMID:
25970189
33.

The PLORAS Database: A data repository for Predicting Language Outcome and Recovery After Stroke.

Seghier ML, Patel E, Prejawa S, Ramsden S, Selmer A, Lim L, Browne R, Rae J, Haigh Z, Ezekiel D, Hope TMH, Leff AP, Price CJ.

Neuroimage. 2016 Jan 1;124(Pt B):1208-1212. doi: 10.1016/j.neuroimage.2015.03.083. Epub 2015 Apr 14.

34.
35.

Variation in healthcare services for specialist genetic testing and implications for planning genetic services: the example of inherited retinal dystrophy in the English NHS.

Harrison M, Birch S, Eden M, Ramsden S, Farragher T, Payne K, Hall G, Black GC.

J Community Genet. 2015 Apr;6(2):157-65. doi: 10.1007/s12687-014-0210-4. Epub 2015 Jan 9.

36.

Further delineation of the KAT6B molecular and phenotypic spectrum.

Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, Day R, Banka S, Suri M, Berland S, Gabbett M, Ma A, Lyonnet S, Cormier-Daire V, Yilmaz R, Borck G, Wieczorek D, Anderlid BM, Smithson S, Vogt J, Moore-Barton H, Simsek-Kiper PO, Maystadt I, Destrée A, Bucher J, Angle B, Mohammed S, Wakeling E, Price S, Singer A, Sznajer Y, Toutain A, Haye D, Newbury-Ecob R, Fradin M, McGaughran J, Tuysuz B, Tein M, Bouman K, Dabir T, Van den Ende J, Luk HM, Pilz DT, Eason J, Davies S, Reardon W, Garavelli L, Zuffardi O, Devriendt K, Armstrong R, Johnson D, Doco-Fenzy M, Bijlsma E, Unger S, Veenstra-Knol HE, Kohlhase J, Lo IF; DDD study, Smith J, Clayton-Smith J.

Eur J Hum Genet. 2015 Sep;23(9):1165-70. doi: 10.1038/ejhg.2014.248. Epub 2014 Nov 26.

37.

The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype.

Hull S, Arno G, Plagnol V, Chamney S, Russell-Eggitt I, Thompson D, Ramsden SC, Black GC, Robson A, Holder GE, Moore AT, Webster AR.

Invest Ophthalmol Vis Sci. 2014 Sep 30;55(10):6934-44. doi: 10.1167/iovs.14-14715.

PMID:
25270190
38.

Personalized diagnosis and management of congenital cataract by next-generation sequencing.

Gillespie RL, O'Sullivan J, Ashworth J, Bhaskar S, Williams S, Biswas S, Kehdi E, Ramsden SC, Clayton-Smith J, Black GC, Lloyd IC.

Ophthalmology. 2014 Nov;121(11):2124-37.e1-2. doi: 10.1016/j.ophtha.2014.06.006. Epub 2014 Aug 19.

PMID:
25148791
39.

Barriers and incentives to the production of bioethanol from cereal straw: A farm business perspective.

Glithero NJ, Ramsden SJ, Wilson P.

Energy Policy. 2013 Aug;59(100):161-171.

40.

Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias.

Briggs MD, Brock J, Ramsden SC, Bell PA.

Eur J Hum Genet. 2014 Nov;22(11):1278-82. doi: 10.1038/ejhg.2014.30. Epub 2014 Mar 5.

41.

Gradual lesion expansion and brain shrinkage years after stroke.

Seghier ML, Ramsden S, Lim L, Leff AP, Price CJ.

Stroke. 2014 Mar;45(3):877-9. doi: 10.1161/STROKEAHA.113.003587. Epub 2014 Jan 14.

PMID:
24425126
42.

Trading spaces: building three-dimensional nets from two-dimensional tilings.

Castle T, Evans ME, Hyde ST, Ramsden S, Robins V.

Interface Focus. 2012 Oct 6;2(5):555-66. doi: 10.1098/rsfs.2011.0115. Epub 2012 Jan 25.

43.

Clinical utility gene card for: choroideremia.

Moosajee M, Ramsden SC, Black GC, Seabra MC, Webster AR.

Eur J Hum Genet. 2014 Apr;22(4). doi: 10.1038/ejhg.2013.183. Epub 2013 Aug 21. No abstract available.

44.

Straw use and availability for second generation biofuels in England.

Glithero NJ, Wilson P, Ramsden SJ.

Biomass Bioenergy. 2013 Aug;55:311-321.

45.

The influence of reading ability on subsequent changes in verbal IQ in the teenage years.

Ramsden S, Richardson FM, Josse G, Shakeshaft C, Seghier ML, Price CJ.

Dev Cogn Neurosci. 2013 Oct;6:30-9. doi: 10.1016/j.dcn.2013.06.001. Epub 2013 Jun 25.

46.

Prospects for arable farm uptake of Short Rotation Coppice willow and miscanthus in England.

Glithero NJ, Wilson P, Ramsden SJ.

Appl Energy. 2013 Jul;107(100):209-218.

47.

A clinical molecular genetic service for United Kingdom families with choroideraemia.

Ramsden SC, O'Grady A, Fletcher T, O'Sullivan J, Hart-Holden N, Barton SJ, Hall G, Moore AT, Webster AR, Black GC.

Eur J Med Genet. 2013 Aug;56(8):432-8. doi: 10.1016/j.ejmg.2013.06.003. Epub 2013 Jun 25.

PMID:
23811034
48.

Polycontinuous geometries for inverse lipid phases with more than two aqueous network domains.

Schröder-Turk GE, de Campo L, Evans ME, Saba M, Kapfer SC, Varslot T, Grosse-Brauckmann K, Ramsden S, Hyde ST.

Faraday Discuss. 2013;161:215-47; discussion 273-303.

PMID:
23805745
49.

Understanding the expectations of patients with inherited retinal dystrophies.

Combs R, Hall G, Payne K, Lowndes J, Devery S, Downes SM, Moore AT, Ramsden S, Black GC, McAllister M.

Br J Ophthalmol. 2013 Aug;97(8):1057-61. doi: 10.1136/bjophthalmol-2012-302911. Epub 2013 Jun 5.

PMID:
23740962
50.

Predicting IQ change from brain structure: a cross-validation study.

Price CJ, Ramsden S, Hope TM, Friston KJ, Seghier ML.

Dev Cogn Neurosci. 2013 Jul;5:172-84. doi: 10.1016/j.dcn.2013.03.001. Epub 2013 Mar 15.

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