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Items: 1 to 50 of 103

1.

Pathogenicity and selective constraint on variation near splice sites.

Lord J, Gallone G, Short PJ, McRae JF, Ironfield H, Wynn EH, Gerety SS, He L, Kerr B, Johnson DS, McCann E, Kinning E, Flinter F, Temple IK, Clayton-Smith J, McEntagart M, Lynch SA, Joss S, Douzgou S, Dabir T, Clowes V, McConnell VPM, Lam W, Wright CF, FitzPatrick DR, Firth HV, Barrett JC, Hurles ME; Deciphering Developmental Disorders Study.

Genome Res. 2018 Dec 26. pii: gr.238444.118. doi: 10.1101/gr.238444.118. [Epub ahead of print]

2.

Correction: Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease.

Wakeling MN, Laver TW, Wright CF, De Franco E, Stals KL, Patch AM, Hattersley AT, Flanagan SE, Ellard S; DDD Study.

Genet Med. 2018 Nov 16. doi: 10.1038/s41436-018-0357-1. [Epub ahead of print]

PMID:
30446706
3.

Quantifying the contribution of recessive coding variation to developmental disorders.

Martin HC, Jones WD, McIntyre R, Sanchez-Andrade G, Sanderson M, Stephenson JD, Jones CP, Handsaker J, Gallone G, Bruntraeger M, McRae JF, Prigmore E, Short P, Niemi M, Kaplanis J, Radford EJ, Akawi N, Balasubramanian M, Dean J, Horton R, Hulbert A, Johnson DS, Johnson K, Kumar D, Lynch SA, Mehta SG, Morton J, Parker MJ, Splitt M, Turnpenny PD, Vasudevan PC, Wright M, Bassett A, Gerety SS, Wright CF, FitzPatrick DR, Firth HV, Hurles ME, Barrett JC; Deciphering Developmental Disorders Study.

Science. 2018 Dec 7;362(6419):1161-1164. doi: 10.1126/science.aar6731. Epub 2018 Nov 8.

PMID:
30409806
4.

Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease.

Wakeling MN, Laver TW, Wright CF, De Franco E, Stals KL, Patch AM, Hattersley AT, Flanagan SE, Ellard S; DDD Study.

Genet Med. 2018 Oct 3. doi: 10.1038/s41436-018-0281-4. [Epub ahead of print] Erratum in: Genet Med. 2018 Nov 16;:.

PMID:
30279471
5.

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders.

Niemi MEK, Martin HC, Rice DL, Gallone G, Gordon S, Kelemen M, McAloney K, McRae J, Radford EJ, Yu S, Gecz J, Martin NG, Wright CF, Fitzpatrick DR, Firth HV, Hurles ME, Barrett JC.

Nature. 2018 Oct;562(7726):268-271. doi: 10.1038/s41586-018-0566-4. Epub 2018 Sep 26.

PMID:
30258228
6.

When genomic medicine reveals misattributed genetic relationships-the debate about disclosure revisited.

Wright CF, Parker M, Lucassen AM.

Genet Med. 2019 Jan;21(1):97-101. doi: 10.1038/s41436-018-0023-7. Epub 2018 Jun 14.

7.

Within-Host Recombination in the Foot-and-Mouth Disease Virus Genome.

Ferretti L, Di Nardo A, Singer B, Lasecka-Dykes L, Logan G, Wright CF, Pérez-Martín E, King DP, Tuthill TJ, Ribeca P.

Viruses. 2018 Apr 25;10(5). pii: E221. doi: 10.3390/v10050221.

8.

Full Genome Sequencing Reveals New Southern African Territories Genotypes Bringing Us Closer to Understanding True Variability of Foot-and-Mouth Disease Virus in Africa.

Lasecka-Dykes L, Wright CF, Di Nardo A, Logan G, Mioulet V, Jackson T, Tuthill TJ, Knowles NJ, King DP.

Viruses. 2018 Apr 13;10(4). pii: E192. doi: 10.3390/v10040192.

9.

Correction to Discovery of the Hemifumarate and (α-l-Alanyloxy)methyl Ether as Prodrugs of an Antirheumatic Oxindole: Prodrugs for the Enolic OH Group.

Robinson RP, Reiter LA, Barth WE, Campeta AM, Cooper K, Cronin BJ, Destito R, Donahue KM, Falkner FC, Fiese EF, Johnson DL, Kuperman AV, Liston TE, Malloy D, Martin JJ, Mitchell DY, Rusek FW, Shamblin SL, Wright CF.

J Med Chem. 2018 Apr 12;61(7):3237. doi: 10.1021/acs.jmedchem.8b00306. Epub 2018 Mar 28. No abstract available.

PMID:
29589934
10.

De novo mutations in regulatory elements in neurodevelopmental disorders.

Short PJ, McRae JF, Gallone G, Sifrim A, Won H, Geschwind DH, Wright CF, Firth HV, FitzPatrick DR, Barrett JC, Hurles ME.

Nature. 2018 Mar 29;555(7698):611-616. doi: 10.1038/nature25983. Epub 2018 Mar 21.

11.

Paediatric genomics: diagnosing rare disease in children.

Wright CF, FitzPatrick DR, Firth HV.

Nat Rev Genet. 2018 May;19(5):325. doi: 10.1038/nrg.2018.12. Epub 2018 Feb 19.

12.

Paediatric genomics: diagnosing rare disease in children.

Wright CF, FitzPatrick DR, Firth HV.

Nat Rev Genet. 2018 May;19(5):253-268. doi: 10.1038/nrg.2017.116. Epub 2018 Feb 5. Review. Erratum in: Nat Rev Genet. 2018 Feb 19;:.

PMID:
29398702
13.

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.

Wright CF, McRae JF, Clayton S, Gallone G, Aitken S, FitzGerald TW, Jones P, Prigmore E, Rajan D, Lord J, Sifrim A, Kelsell R, Parker MJ, Barrett JC, Hurles ME, FitzPatrick DR, Firth HV; DDD Study.

Genet Med. 2018 Oct;20(10):1216-1223. doi: 10.1038/gim.2017.246. Epub 2018 Jan 11.

14.

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.

Gueneau L, Fish RJ, Shamseldin HE, Voisin N, Tran Mau-Them F, Preiksaitiene E, Monroe GR, Lai A, Putoux A, Allias F, Ambusaidi Q, Ambrozaityte L, Cimbalistienė L, Delafontaine J, Guex N, Hashem M, Kurdi W, Jamuar SS, Ying LJ, Bonnard C, Pippucci T, Pradervand S, Roechert B, van Hasselt PM, Wiederkehr M, Wright CF; DDD Study, Xenarios I, van Haaften G, Shaw-Smith C, Schindewolf EM, Neerman-Arbez M, Sanlaville D, Lesca G, Guibaud L, Reversade B, Chelly J, Kučinskas V, Alkuraya FS, Reymond A.

Am J Hum Genet. 2018 Jan 4;102(1):116-132. doi: 10.1016/j.ajhg.2017.12.002. Epub 2017 Dec 28.

15.

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]

16.

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.

17.

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.

18.

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.

19.

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.

Sleven H, Welsh SJ, Yu J, Churchill MEA, 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.

20.

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.

21.

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.

22.

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
23.

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.

24.

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.

25.

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.

26.

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.

27.

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.

28.

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.

29.

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
30.

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.

31.

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.

32.

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
33.

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.

34.

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.

35.

Reconstructing the origin and transmission dynamics of the 1967-68 foot-and-mouth disease epidemic in the United Kingdom.

Wright CF, Knowles NJ, Di Nardo A, Paton DJ, Haydon DT, King DP.

Infect Genet Evol. 2013 Dec;20:230-8. doi: 10.1016/j.meegid.2013.09.009. Epub 2013 Sep 13.

36.

Empirical research on the ethics of genomic research.

Middleton A, Parker M, Wright CF, Bragin E, Hurles ME; DDD Study.

Am J Med Genet A. 2013 Aug;161A(8):2099-101. doi: 10.1002/ajmg.a.36067. Epub 2013 Jun 27. No abstract available.

37.

Evolution of foot-and-mouth disease virus intra-sample sequence diversity during serial transmission in bovine hosts.

Morelli MJ, Wright CF, Knowles NJ, Juleff N, Paton DJ, King DP, Haydon DT.

Vet Res. 2013 Mar 1;44:12. doi: 10.1186/1297-9716-44-12.

38.

Observing micro-evolutionary processes of viral populations at multiple scales.

Orton RJ, Wright CF, Morelli MJ, Juleff N, Thébaud G, Knowles NJ, Valdazo-González B, Paton DJ, King DP, Haydon DT.

Philos Trans R Soc Lond B Biol Sci. 2013 Feb 4;368(1614):20120203. doi: 10.1098/rstb.2012.0203. Print 2013 Mar 19. Review.

39.

New technologies to diagnose and monitor infectious diseases of livestock: challenges for sub-Saharan Africa.

King DP, Madi M, Mioulet V, Wadsworth J, Wright CF, Valdazo-González B, Ferris NP, Knowles NJ, Hammond J.

Onderstepoort J Vet Res. 2012 Jun 20;79(2):456. doi: 10.4102/ojvr.v79i2.456. Review.

PMID:
23327376
40.

Review of massively parallel DNA sequencing technologies.

Moorthie S, Mattocks CJ, Wright CF.

Hugo J. 2011 Dec;5(1-4):1-12. doi: 10.1007/s11568-011-9156-3. Epub 2011 Oct 27.

41.

Accumulation of nucleotide substitutions occurring during experimental transmission of foot-and-mouth disease virus.

Juleff N, Valdazo-González B, Wadsworth J, Wright CF, Charleston B, Paton DJ, King DP, Knowles NJ.

J Gen Virol. 2013 Jan;94(Pt 1):108-19. doi: 10.1099/vir.0.046029-0. Epub 2012 Oct 3.

42.

Informatics and clinical genome sequencing: opening the black box.

Moorthie S, Hall A, Wright CF.

Genet Med. 2013 Mar;15(3):165-71. doi: 10.1038/gim.2012.116. Epub 2012 Sep 13. Review.

PMID:
22975759
43.

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders.

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

Hum Mol Genet. 2012 Oct 15;21(R1):R37-44. Epub 2012 Sep 8. Review.

44.

Non-invasive prenatal diagnostic test accuracy for fetal sex using cell-free DNA a review and meta-analysis.

Wright CF, Wei Y, Higgins JP, Sagoo GS.

BMC Res Notes. 2012 Sep 1;5:476. doi: 10.1186/1756-0500-5-476. Review.

45.

Risk prediction models: a framework for assessment.

Dent TH, Wright CF, Stephan BC, Brayne C, Janssens AC.

Public Health Genomics. 2012;15(2):98-105. doi: 10.1159/000334436. Epub 2011 Dec 14.

PMID:
22179132
46.

The Deciphering Developmental Disorders (DDD) study.

Firth HV, Wright CF; DDD Study.

Dev Med Child Neurol. 2011 Aug;53(8):702-3. doi: 10.1111/j.1469-8749.2011.04032.x. Epub 2011 Jun 17. No abstract available.

47.

Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration.

Janssens AC, Ioannidis JP, Bedrosian S, Boffetta P, Dolan SM, Dowling N, Fortier I, Freedman AN, Grimshaw JM, Gulcher J, Gwinn M, Hlatky MA, Janes H, Kraft P, Melillo S, O'Donnell CJ, Pencina MJ, Ransohoff D, Schully SD, Seminara D, Winn DM, Wright CF, van Duijn CM, Little J, Khoury MJ.

Eur J Clin Invest. 2011 Sep;41(9):1010-35. doi: 10.1111/j.1365-2362.2011.02493.x. Epub 2011 Mar 15.

PMID:
21434890
48.

Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration.

Janssens AC, Ioannidis JP, Bedrosian S, Boffetta P, Dolan SM, Dowling N, Fortier I, Freedman AN, Grimshaw JM, Gulcher J, Gwinn M, Hlatky MA, Janes H, Kraft P, Melillo S, O'Donnell CJ, Pencina MJ, Ransohoff D, Schully SD, Seminara D, Winn DM, Wright CF, van Duijn CM, Little J, Khoury MJ.

Eur J Epidemiol. 2011 Apr;26(4):313-37. doi: 10.1007/s10654-011-9551-z.

49.

Strengthening the reporting of Genetic RIsk Prediction Studies (GRIPS): explanation and elaboration.

Janssens AC, Ioannidis JP, Bedrosian S, Boffetta P, Dolan SM, Dowling N, Fortier I, Freedman AN, Grimshaw JM, Gulcher J, Gwinn M, Hlatky MA, Janes H, Kraft P, Melillo S, O'Donnell CJ, Pencina MJ, Ransohoff D, Schully SD, Seminara D, Winn DM, Wright CF, van Duijn CM, Little J, Khoury MJ.

J Clin Epidemiol. 2011 Aug;64(8):e1-e22. doi: 10.1016/j.jclinepi.2011.02.003. Epub 2011 Mar 16.

PMID:
21414753
50.

Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration.

Janssens AC, Ioannidis JP, Bedrosian S, Boffetta P, Dolan SM, Dowling N, Fortier I, Freedman AN, Grimshaw JM, Gulcher J, Gwinn M, Hlatky MA, Janes H, Kraft P, Melillo S, O'Donnell CJ, Pencina MJ, Ransohoff D, Schully SD, Seminara D, Winn DM, Wright CF, van Duijn CM, Little J, Khoury MJ.

Eur J Hum Genet. 2011 May;19(5):18 p preceding 494. doi: 10.1038/ejhg.2011.27.

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