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Items: 1 to 20 of 89

1.

Deep sequencing of foot-and-mouth disease virus reveals RNA sequences involved in genome packaging.

Logan G, Newman J, Wright CF, Lasecka-Dykes L, Haydon DT, Cottam EM, Tuthill TJ.

J Virol. 2017 Oct 18. pii: JVI.01159-17. doi: 10.1128/JVI.01159-17. [Epub ahead of print]

2.

Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1.

Suri M, Evers JMG, Laskowski RA, O'Brien S, Baker K, Clayton-Smith J, Dabir T, Josifova D, Joss S, Kerr B, Kraus A, McEntagart M, Morton J, Smith A, Splitt M, Thornton JM; DDD Study, Wright CF.

Mol Genet Genomic Med. 2017 Jun 20;5(5):495-507. doi: 10.1002/mgg3.304. eCollection 2017 Sep.

3.

Returning genome sequences to research participants: Policy and practice.

Wright CF, Middleton A, Barrett JC, Firth HV, FitzPatrick DR, Hurles ME, Parker M.

Wellcome Open Res. 2017 Feb 24;2:15. doi: 10.12688/wellcomeopenres.10942.1.

4.

Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.

Evers JM, Laskowski RA, Bertolli M, Clayton-Smith J, Deshpande C, Eason J, Elmslie F, Flinter F, Gardiner C, Hurst JA, Kingston H, Kini U, Lampe AK, Lim D, Male A, Naik S, Parker MJ, Price S, Robert L, Sarkar A, Straub V, Woods G, Thornton JM; DDD Study, Wright CF.

Hum Mol Genet. 2017 Feb 1;26(3):519-526. doi: 10.1093/hmg/ddw409.

5.

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.

Sleven H, Welsh SJ, Yu J, Churchill ME, Wright CF, Henderson A, Horvath R, Rankin J, Vogt J, Magee A, McConnell V, Green A, King MD, Cox H, Armstrong L, Lehman A, Nelson TN; Deciphering Developmental Disorders study; CAUSES study, Williams J, Clouston P, Hagman J, Németh AH.

Am J Hum Genet. 2017 Jan 5;100(1):138-150. doi: 10.1016/j.ajhg.2016.11.020. Epub 2016 Dec 23.

6.

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

Sifrim A, Hitz MP, Wilsdon A, Breckpot J, Turki SH, Thienpont B, McRae J, Fitzgerald TW, Singh T, Swaminathan GJ, Prigmore E, Rajan D, Abdul-Khaliq H, Banka S, Bauer UM, Bentham J, Berger F, Bhattacharya S, Bu'Lock F, Canham N, Colgiu IG, Cosgrove C, Cox H, Daehnert I, Daly A, Danesh J, Fryer A, Gewillig M, Hobson E, Hoff K, Homfray T; INTERVAL Study, Kahlert AK, Ketley A, Kramer HH, Lachlan K, Lampe AK, Louw JJ, Manickara AK, Manase D, McCarthy KP, Metcalfe K, Moore C, Newbury-Ecob R, Omer SO, Ouwehand WH, Park SM, Parker MJ, Pickardt T, Pollard MO, Robert L, Roberts DJ, Sambrook J, Setchfield K, Stiller B, Thornborough C, Toka O, Watkins H, Williams D, Wright M, Mital S, Daubeney PE, Keavney B, Goodship J; UK10K Consortium, Abu-Sulaiman RM, Klaassen S, Wright CF, Firth HV, Barrett JC, Devriendt K, FitzPatrick DR, Brook JD; Deciphering Developmental Disorders Study, Hurles ME.

Nat Genet. 2016 Sep;48(9):1060-5. doi: 10.1038/ng.3627. Epub 2016 Aug 1.

PMID:
27479907
7.

Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain.

Laskowski RA, Tyagi N, Johnson D, Joss S, Kinning E, McWilliam C, Splitt M, Thornton JM, Firth HV; DDD Study, Wright CF.

Hum Mol Genet. 2016 Mar 1;25(5):927-35. doi: 10.1093/hmg/ddv625. Epub 2016 Jan 5.

8.

Principle of proportionality in genomic data sharing.

Wright CF, Hurles ME, Firth HV.

Nat Rev Genet. 2016 Jan;17(1):1-2. doi: 10.1038/nrg.2015.5. Epub 2015 Nov 23.

PMID:
26593419
9.

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.

Akawi N, McRae J, Ansari M, Balasubramanian M, Blyth M, Brady AF, Clayton S, Cole T, Deshpande C, Fitzgerald TW, Foulds N, Francis R, Gabriel G, Gerety SS, Goodship J, Hobson E, Jones WD, Joss S, King D, Klena N, Kumar A, Lees M, Lelliott C, Lord J, McMullan D, O'Regan M, Osio D, Piombo V, Prigmore E, Rajan D, Rosser E, Sifrim A, Smith A, Swaminathan GJ, Turnpenny P, Whitworth J, Wright CF, Firth HV, Barrett JC, Lo CW, FitzPatrick DR, Hurles ME; DDD study.

Nat Genet. 2015 Nov;47(11):1363-9. doi: 10.1038/ng.3410. Epub 2015 Oct 5.

PMID:
26437029
10.

Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER.

Chatzimichali EA, Brent S, Hutton B, Perrett D, Wright CF, Bevan AP, Hurles ME, Firth HV, Swaminathan GJ.

Hum Mutat. 2015 Oct;36(10):941-9. doi: 10.1002/humu.22842. Epub 2015 Aug 20.

11.

Potential research participants support the return of raw sequence data.

Middleton A, Wright CF, Morley KI, Bragin E, Firth HV, Hurles ME, Parker M; DDD study.

J Med Genet. 2015 Aug;52(8):571-4. doi: 10.1136/jmedgenet-2015-103119. Epub 2015 May 20.

12.

Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research.

Middleton A, Morley KI, Bragin E, Firth HV, Hurles ME, Wright CF, Parker M; DDD study.

Eur J Hum Genet. 2016 Jan;24(1):21-9. doi: 10.1038/ejhg.2015.58. Epub 2015 Apr 29.

13.

Interleukin-1 receptor antagonist reduces neonatal lipopolysaccharide-induced long-lasting neurobehavioral deficits and dopaminergic neuronal injury in adult rats.

Pang Y, Tien LT, Zhu H, Shen J, Wright CF, Jones TK, Mamoon SA, Bhatt AJ, Cai Z, Fan LW.

Int J Mol Sci. 2015 Apr 17;16(4):8635-54. doi: 10.3390/ijms16048635.

14.

Distinguishing low frequency mutations from RT-PCR and sequence errors in viral deep sequencing data.

Orton RJ, Wright CF, Morelli MJ, King DJ, Paton DJ, King DP, Haydon DT.

BMC Genomics. 2015 Mar 24;16:229. doi: 10.1186/s12864-015-1456-x.

15.

No expectation to share incidental findings in genomic research.

Middleton A, Morley KI, Bragin E, Firth HV, Hurles ME, Wright CF, Parker M; Deciphering Developmental Disorders Study.

Lancet. 2015 Apr 4;385(9975):1289-90. doi: 10.1016/S0140-6736(14)62119-X. Epub 2014 Dec 17. No abstract available.

PMID:
25529584
16.

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.

Wright CF, Fitzgerald TW, Jones WD, Clayton S, McRae JF, van Kogelenberg M, King DA, Ambridge K, Barrett DM, Bayzetinova T, Bevan AP, Bragin E, Chatzimichali EA, Gribble S, Jones P, Krishnappa N, Mason LE, Miller R, Morley KI, Parthiban V, Prigmore E, Rajan D, Sifrim A, Swaminathan GJ, Tivey AR, Middleton A, Parker M, Carter NP, Barrett JC, Hurles ME, FitzPatrick DR, Firth HV; DDD study.

Lancet. 2015 Apr 4;385(9975):1305-14. doi: 10.1016/S0140-6736(14)61705-0. Epub 2014 Dec 17.

17.

Conceptual issues for screening in the genomic era - time for an update?

Wright CF, Zimmern RL.

Epidemiol Biostat Public Health. 2014 Dec 11;11(4). pii: e9944.

18.

Policy challenges of clinical genome sequencing.

Wright CF, Middleton A, Burton H, Cunningham F, Humphries SE, Hurst J, Birney E, Firth HV.

BMJ. 2013 Nov 22;347:f6845. doi: 10.1136/bmj.f6845. No abstract available.

PMID:
24270507
19.

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.

Köhler S, Doelken SC, Mungall CJ, Bauer S, Firth HV, Bailleul-Forestier I, Black GC, Brown DL, Brudno M, Campbell J, FitzPatrick DR, Eppig JT, Jackson AP, Freson K, Girdea M, Helbig I, Hurst JA, Jähn J, Jackson LG, Kelly AM, Ledbetter DH, Mansour S, Martin CL, Moss C, Mumford A, Ouwehand WH, Park SM, Riggs ER, Scott RH, Sisodiya S, Van Vooren S, Wapner RJ, Wilkie AO, Wright CF, Vulto-van Silfhout AT, de Leeuw N, de Vries BB, Washingthon NL, Smith CL, Westerfield M, Schofield P, Ruef BJ, Gkoutos GV, Haendel M, Smedley D, Lewis SE, Robinson PN.

Nucleic Acids Res. 2014 Jan;42(Database issue):D966-74. doi: 10.1093/nar/gkt1026. Epub 2013 Nov 11.

20.

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation.

Bragin E, Chatzimichali EA, Wright CF, Hurles ME, Firth HV, Bevan AP, Swaminathan GJ.

Nucleic Acids Res. 2014 Jan;42(Database issue):D993-D1000. doi: 10.1093/nar/gkt937. Epub 2013 Oct 22.

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