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Items: 1 to 50 of 100

1.

Optimised insert design for improved single-molecule imaging and quantification through CRISPR-Cas9 mediated knock-in.

Khan AO, White CW, Pike JA, Yule J, Slater A, Hill SJ, Poulter NS, Thomas SG, Morgan NV.

Sci Rep. 2019 Oct 2;9(1):14219. doi: 10.1038/s41598-019-50733-9.

2.

SLFN14 gene mutations associated with bleeding.

Stapley RJ, Pisareva VP, Pisarev AV, Morgan NV.

Platelets. 2019 Aug 4:1-4. doi: 10.1080/09537104.2019.1648781. [Epub ahead of print] No abstract available.

PMID:
31378119
3.

Inherited Thrombocytopenia: Update on Genes and Genetic Variants Which may be Associated With Bleeding.

Almazni I, Stapley R, Morgan NV.

Front Cardiovasc Med. 2019 Jun 19;6:80. doi: 10.3389/fcvm.2019.00080. eCollection 2019. Review.

4.

High-throughput platelet spreading analysis: a tool for the diagnosis of platelet- based bleeding disorders.

Khan AO, Maclachlan A, Lowe GC, Nicolson PLR, Al Ghaithi R, Thomas SG, Watson SP, Pike JA, Morgan NV; UK GAPP Study Group.

Haematologica. 2019 Jun 20. pii: haematol.2019.225912. doi: 10.3324/haematol.2019.225912. [Epub ahead of print]

5.

Potential genetic causes of miscarriage in euploid pregnancies: a systematic review.

Colley E, Hamilton S, Smith P, Morgan NV, Coomarasamy A, Allen S.

Hum Reprod Update. 2019 Jul 1;25(4):452-472. doi: 10.1093/humupd/dmz015.

PMID:
31150545
6.

Investigation of the contribution of an underlying platelet defect in women with unexplained heavy menstrual bleeding.

Lowe GC, Fickowska R, Al Ghaithi R, Maclachlan A, Harrison P, Lester W, Watson SP, Myers B, Clark J, Morgan NV.

Platelets. 2019;30(1):56-65. doi: 10.1080/09537104.2018.1543865. Epub 2018 Dec 6.

7.

Evaluation of the Total Thrombus-Formation System (T-TAS): application to human and mouse blood analysis.

Al Ghaithi R, Mori J, Nagy Z, Maclachlan A, Hardy L, Philippou H, Hethershaw E, Morgan NV, Senis YA, Harrison P.

Platelets. 2019;30(7):893-900. doi: 10.1080/09537104.2018.1535704. Epub 2018 Oct 26.

8.

A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia.

Johnson B, Doak R, Allsup D, Astwood E, Evans G, Grimley C, James B, Myers B, Stokley S, Thachil J, Wilde J, Williams M, Makris M, Lowe GC, Wallis Y, Daly ME, Morgan NV; UK GAPP Study Group.

Res Pract Thromb Haemost. 2018 Oct 8;2(4):640-652. doi: 10.1002/rth2.12151. eCollection 2018 Oct.

9.

Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder.

Westbury SK, Downes K, Burney C, Lozano ML, Obaji SG, Toh CH, Sevivas T, Morgan NV, Erber WN, Kempster C, Moore SF, Thys C, Papadia S, Ouwehand WH; NIHR BioResource–Rare Diseases, Laffan MA, Gomez K, Freson K, Rivera J, Mumford AD.

Blood Adv. 2018 Sep 25;2(18):2341-2346. doi: 10.1182/bloodadvances.2018020370. No abstract available.

10.

Mutation in GNE is associated with severe congenital thrombocytopenia.

Futterer J, Dalby A, Lowe GC, Johnson B, Simpson MA, Motwani J, Williams M, Watson SP, Morgan NV; UK GAPP Study Group.

Blood. 2018 Oct 25;132(17):1855-1858. doi: 10.1182/blood-2018-04-847798. Epub 2018 Jun 25. No abstract available.

11.

Role of the novel endoribonuclease SLFN14 and its disease-causing mutations in ribosomal degradation.

Fletcher SJ, Pisareva VP, Khan AO, Tcherepanov A, Morgan NV, Pisarev AV.

RNA. 2018 Jul;24(7):939-949. doi: 10.1261/rna.066415.118. Epub 2018 Apr 20.

12.

Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.

Bastida JM, Lozano ML, Benito R, Janusz K, Palma-Barqueros V, Del Rey M, Hernández-Sánchez JM, Riesco S, Bermejo N, González-García H, Rodriguez-Alén A, Aguilar C, Sevivas T, López-Fernández MF, Marneth AE, van der Reijden BA, Morgan NV, Watson SP, Vicente V, Hernández-Rivas JM, Rivera J, González-Porras JR.

Haematologica. 2018 Jan;103(1):148-162. doi: 10.3324/haematol.2017.171132. Epub 2017 Oct 5.

13.

CRISPR-Cas9 Mediated Labelling Allows for Single Molecule Imaging and Resolution.

Khan AO, Simms VA, Pike JA, Thomas SG, Morgan NV.

Sci Rep. 2017 Aug 16;7(1):8450. doi: 10.1038/s41598-017-08493-x.

14.

Comparison of multiple electrode aggregometry with lumi-aggregometry for the diagnosis of patients with mild bleeding disorders.

Al Ghaithi R, Drake S, Watson SP, Morgan NV, Harrison P.

J Thromb Haemost. 2017 Oct;15(10):2045-2052. doi: 10.1111/jth.13784. Epub 2017 Sep 13.

15.

Schlafen 14 (SLFN14) is a novel antiviral factor involved in the control of viral replication.

Seong RK, Seo SW, Kim JA, Fletcher SJ, Morgan NV, Kumar M, Choi YK, Shin OS.

Immunobiology. 2017 Nov;222(11):979-988. doi: 10.1016/j.imbio.2017.07.002. Epub 2017 Jul 11.

16.

Gene of the issue: RUNX1 mutations and inherited bleeding.

Morgan NV, Daly ME.

Platelets. 2017 Mar;28(2):208-210. doi: 10.1080/09537104.2017.1280151. Epub 2017 Feb 17. No abstract available.

17.

Whole exome sequencing identifies a mutation in thrombomodulin as the genetic cause of a suspected platelet disorder in a family with normal platelet function.

Maclachlan A, Dolan G, Grimley C, Watson SP, Morgan NV, On Behalf Of The Uk Gapp Study Group.

Platelets. 2017 Sep;28(6):611-613. doi: 10.1080/09537104.2017.1283011. Epub 2017 Mar 7.

18.

ISTH Advanced Training Course on platelet bleeding disorders: How should they be investigated?St. Anne's College, Oxford, 6-9th September 2016.

Watson SP, Daly ME, Harrison P, Lowe GC, Paterson A, Rivera J, Warner TD, Morgan NV.

Platelets. 2016 Dec;27(8):719-721. Epub 2016 Nov 14. No abstract available.

PMID:
27841701
19.

The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity.

Damgaard RB, Walker JA, Marco-Casanova P, Morgan NV, Titheradge HL, Elliott PR, McHale D, Maher ER, McKenzie ANJ, Komander D.

Cell. 2016 Aug 25;166(5):1215-1230.e20. doi: 10.1016/j.cell.2016.07.019. Epub 2016 Aug 11.

20.

Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects.

Johnson B, Lowe GC, Futterer J, Lordkipanidzé M, MacDonald D, Simpson MA, Sanchez-Guiú I, Drake S, Bem D, Leo V, Fletcher SJ, Dawood B, Rivera J, Allsup D, Biss T, Bolton-Maggs PH, Collins P, Curry N, Grimley C, James B, Makris M, Motwani J, Pavord S, Talks K, Thachil J, Wilde J, Williams M, Harrison P, Gissen P, Mundell S, Mumford A, Daly ME, Watson SP, Morgan NV; UK GAPP Study Group.

Haematologica. 2016 Oct;101(10):1170-1179. Epub 2016 Jun 16.

21.

Inherited platelet disorders: Insight from platelet genomics using next-generation sequencing.

Maclachlan A, Watson SP, Morgan NV.

Platelets. 2017 Jan;28(1):14-19. doi: 10.1080/09537104.2016.1195492. Epub 2016 Jun 27. Review.

22.

Inherited thrombocytopenia: novel insights into megakaryocyte maturation, proplatelet formation and platelet lifespan.

Johnson B, Fletcher SJ, Morgan NV.

Platelets. 2016 Sep;27(6):519-25. doi: 10.3109/09537104.2016.1148806. Epub 2016 Mar 30. Review.

23.

Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression.

Smith J, Read ML, Hoffman J, Brown R, Bradshaw B, Campbell C, Cole T, Navas JD, Eatock F, Gundara JS, Lian E, Mcmullan D, Morgan NV, Mulligan L, Morrison PJ, Robledo M, Simpson MA, Smith VE, Stewart S, Trembath RC, Sidhu S, Togneri FS, Wake NC, Wallis Y, Watkinson JC, Maher ER, McCabe CJ, Woodward ER.

Hum Mol Genet. 2016 May 1;25(9):1836-45. doi: 10.1093/hmg/ddw057. Epub 2016 Mar 3.

PMID:
26945007
24.

Erratum to: Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency.

Dang TS, Willet JD, Griffin HR, Morgan NV, O'Boyle G, Arkwright PD, Hughes SM, Abinun M, Tee LJ, Barge D, Engelhardt KR, Jackson M, Cant AJ, Maher ER, Koref MS, Reynard LN, Ali S, Hambleton S.

J Clin Immunol. 2016 Apr;36(3):336-7. doi: 10.1007/s10875-016-0248-7. No abstract available.

25.

Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency.

Dang TS, Willet JD, Griffin HR, Morgan NV, O'Boyle G, Arkwright PD, Hughes SM, Abinun M, Tee LJ, Barge D, Engelhardt KR, Jackson M, Cant AJ, Maher ER, Koref MS, Reynard LN, Ali S, Hambleton S.

J Clin Immunol. 2016 Feb;36(2):117-22. doi: 10.1007/s10875-016-0232-2. Epub 2016 Jan 22. Erratum in: J Clin Immunol. 2016 Apr;36(3):336-7.

26.

Astute Clinician Report: A Novel 10 bp Frameshift Deletion in Exon 2 of ICOS Causes a Combined Immunodeficiency Associated with an Enteritis and Hepatitis.

Robertson N, Engelhardt KR, Morgan NV, Barge D, Cant AJ, Hughes SM, Abinun M, Xu Y, Koref MS, Arkwright PD, Hambleton S.

J Clin Immunol. 2015 Oct;35(7):598-603. doi: 10.1007/s10875-015-0193-x. Epub 2015 Sep 23.

27.

SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects.

Fletcher SJ, Johnson B, Lowe GC, Bem D, Drake S, Lordkipanidzé M, Guiú IS, Dawood B, Rivera J, Simpson MA, Daly ME, Motwani J, Collins PW, Watson SP, Morgan NV; UK Genotyping and Phenotyping of Platelets study group.

J Clin Invest. 2015 Sep;125(9):3600-5. doi: 10.1172/JCI80347. Epub 2015 Aug 17.

28.

Diversity and impact of rare variants in genes encoding the platelet G protein-coupled receptors.

Jones ML, Norman JE, Morgan NV, Mundell SJ, Lordkipanidzé M, Lowe GC, Daly ME, Simpson MA, Drake S, Watson SP, Mumford AD; UK GAPP study group.

Thromb Haemost. 2015 Apr;113(4):826-37. doi: 10.1160/TH14-08-0679. Epub 2015 Jan 8.

29.

Use of next-generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders.

Leo VC, Morgan NV, Bem D, Jones ML, Lowe GC, Lordkipanidzé M, Drake S, Simpson MA, Gissen P, Mumford A, Watson SP, Daly ME; UK GAPP Study Group.

J Thromb Haemost. 2015 Apr;13(4):643-50. doi: 10.1111/jth.12836. Epub 2015 Jan 27.

30.

Dual proteolytic pathways govern glycolysis and immune competence.

Lu W, Zhang Y, McDonald DO, Jing H, Carroll B, Robertson N, Zhang Q, Griffin H, Sanderson S, Lakey JH, Morgan NV, Reynard LN, Zheng L, Murdock HM, Turvey SE, Hackett SJ, Prestidge T, Hall JM, Cant AJ, Matthews HF, Koref MF, Simon AK, Korolchuk VI, Lenardo MJ, Hambleton S, Su HC.

Cell. 2014 Dec 18;159(7):1578-90. doi: 10.1016/j.cell.2014.12.001.

31.

Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome.

McKie AB, Alsaedi A, Vogt J, Stuurman KE, Weiss MM, Shakeel H, Tee L, Morgan NV, Nikkels PG, van Haaften G, Park SM, van der Smagt JJ, Bugiani M, Maher ER.

Acta Neuropathol Commun. 2014 Dec 5;2:148. doi: 10.1186/s40478-014-0148-0.

32.

CD3G gene defects in familial autoimmune thyroiditis.

Gokturk B, Keles S, Kirac M, Artac H, Tokgoz H, Guner SN, Caliskan U, Caliskaner Z, van der Burg M, van Dongen J, Morgan NV, Reisli I.

Scand J Immunol. 2014 Nov;80(5):354-61. doi: 10.1111/sji.12200.

33.

What is the role of genetic testing in the investigation of patients with suspected platelet function disorders?

Daly ME, Leo VC, Lowe GC, Watson SP, Morgan NV.

Br J Haematol. 2014 Apr;165(2):193-203. doi: 10.1111/bjh.12751. Epub 2014 Jan 30. Review.

PMID:
24479992
34.

Characterization of multiple platelet activation pathways in patients with bleeding as a high-throughput screening option: use of 96-well Optimul assay.

Lordkipanidzé M, Lowe GC, Kirkby NS, Chan MV, Lundberg MH, Morgan NV, Bem D, Nisar SP, Leo VC, Jones ML, Mundell SJ, Daly ME, Mumford AD, Warner TD, Watson SP; UK Genotyping and Phenotyping of Platelets Study Group.

Blood. 2014 Feb 20;123(8):e11-22. doi: 10.1182/blood-2013-08-520387. Epub 2014 Jan 9.

35.

Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects.

Stockley J, Morgan NV, Bem D, Lowe GC, Lordkipanidzé M, Dawood B, Simpson MA, Macfarlane K, Horner K, Leo VC, Talks K, Motwani J, Wilde JT, Collins PW, Makris M, Watson SP, Daly ME; UK Genotyping and Phenotyping of Platelets Study Group.

Blood. 2013 Dec 12;122(25):4090-3. doi: 10.1182/blood-2013-06-506873. Epub 2013 Oct 7.

36.

A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease.

Morgan NV, Hartley JL, Setchell KD, Simpson MA, Brown R, Tee L, Kirkham S, Pasha S, Trembath RC, Maher ER, Gissen P, Kelly DA.

Orphanet J Rare Dis. 2013 May 16;8:74. doi: 10.1186/1750-1172-8-74.

37.

Variable presentation of primary immune deficiency: two cases with CD3 gamma deficiency presenting with only autoimmunity.

Tokgoz H, Caliskan U, Keles S, Reisli I, Guiu IS, Morgan NV.

Pediatr Allergy Immunol. 2013 May;24(3):257-62. doi: 10.1111/pai.12063.

PMID:
23590417
38.

Genotyping and phenotyping of platelet function disorders.

Watson SP, Lowe GC, Lordkipanidzé M, Morgan NV; GAPP consortium.

J Thromb Haemost. 2013 Jun;11 Suppl 1:351-63. doi: 10.1111/jth.12199. Review. Erratum in: J Thromb Haemost. 2013 Sep;11(9):1790.

39.

STAT2 deficiency and susceptibility to viral illness in humans.

Hambleton S, Goodbourn S, Young DF, Dickinson P, Mohamad SM, Valappil M, McGovern N, Cant AJ, Hackett SJ, Ghazal P, Morgan NV, Randall RE.

Proc Natl Acad Sci U S A. 2013 Feb 19;110(8):3053-8. doi: 10.1073/pnas.1220098110. Epub 2013 Feb 7.

40.

Microsatellite markers as a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: identification of the second HPS7 mutation in a patient presenting late in life.

Lowe GC, Sánchez Guiu I, Chapman O, Rivera J, Lordkipanidzé M, Dovlatova N, Wilde J, Watson SP, Morgan NV; UK GAPP collaborative.

Thromb Haemost. 2013 Apr;109(4):766-8. doi: 10.1160/TH12-11-0876. Epub 2013 Jan 31. No abstract available.

41.

Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance.

Walsh DM, Shalev SA, Simpson MA, Morgan NV, Gelman-Kohan Z, Chemke J, Trembath RC, Maher ER.

Eur J Med Genet. 2013 Jan;56(1):39-42. doi: 10.1016/j.ejmg.2012.10.004. Epub 2012 Nov 7.

PMID:
23142271
42.

Severe ischemic mitral regurgitation despite normally contracting subpapillary myocardium.

Beaudoin J, Levine RA, Yosefy C, Beeri R, Neary JH, Morgan NV, Passeri JJ.

Circulation. 2012 Jul 3;126(1):138-41. doi: 10.1161/CIRCULATIONAHA.111.064253. No abstract available.

43.

A Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis.

Walsh DM, Shah SH, Simpson MA, Morgan NV, Khaliq S, Trembath RC, Mehdi SQ, Maher ER.

Scientifica (Cairo). 2012;2012:649090. doi: 10.6064/2012/649090. Epub 2012 Dec 31.

44.

CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.

Vogt J, Morgan NV, Rehal P, Faivre L, Brueton LA, Becker K, Fryns JP, Holder S, Islam L, Kivuva E, Lynch SA, Touraine R, Wilson LC, MacDonald F, Maher ER.

J Med Genet. 2012 Jan;49(1):21-6. doi: 10.1136/jmedgenet-2011-100378.

PMID:
22167768
45.

Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.

Meyer E, Kurian MA, Morgan NV, McNeill A, Pasha S, Tee L, Younis R, Norman A, van der Knaap MS, Wassmer E, Trembath RC, Brueton L, Maher ER.

Mol Genet Metab. 2011 Dec;104(4):637-43. doi: 10.1016/j.ymgme.2011.08.032. Epub 2011 Sep 8.

PMID:
21959080
46.

Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth.

Nieminen P, Morgan NV, Fenwick AL, Parmanen S, Veistinen L, Mikkola ML, van der Spek PJ, Giraud A, Judd L, Arte S, Brueton LA, Wall SA, Mathijssen IM, Maher ER, Wilkie AO, Kreiborg S, Thesleff I.

Am J Hum Genet. 2011 Jul 15;89(1):67-81. doi: 10.1016/j.ajhg.2011.05.024.

47.

Diagnostic value of vena contracta area in the quantification of mitral regurgitation severity by color Doppler 3D echocardiography.

Zeng X, Levine RA, Hua L, Morris EL, Kang Y, Flaherty M, Morgan NV, Hung J.

Circ Cardiovasc Imaging. 2011 Sep;4(5):506-13. doi: 10.1161/CIRCIMAGING.110.961649. Epub 2011 Jul 5.

48.

Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαβ+ T cells.

Morgan NV, Goddard S, Cardno TS, McDonald D, Rahman F, Barge D, Ciupek A, Straatman-Iwanowska A, Pasha S, Guckian M, Anderson G, Huissoon A, Cant A, Tate WP, Hambleton S, Maher ER.

J Clin Invest. 2011 Feb;121(2):695-702. doi: 10.1172/JCI41931. Epub 2011 Jan 4.

49.

Whole-exome-sequencing-based discovery of human FADD deficiency.

Bolze A, Byun M, McDonald D, Morgan NV, Abhyankar A, Premkumar L, Puel A, Bacon CM, Rieux-Laucat F, Pang K, Britland A, Abel L, Cant A, Maher ER, Riedl SJ, Hambleton S, Casanova JL.

Am J Hum Genet. 2010 Dec 10;87(6):873-81. doi: 10.1016/j.ajhg.2010.10.028. Epub 2010 Nov 25.

50.

Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy.

Kurian MA, Meyer E, Vassallo G, Morgan NV, Prakash N, Pasha S, Hai NA, Shuib S, Rahman F, Wassmer E, Cross JH, O'Callaghan FJ, Osborne JP, Scheffer IE, Gissen P, Maher ER.

Brain. 2010 Oct;133(10):2964-70. doi: 10.1093/brain/awq238. Epub 2010 Sep 9.

PMID:
20833646

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