Publications

Hassan E, Fratter C, Lester W, Percy C, Saad W, Alkhedir A, Motwani J, Bignell P,  Nicolson PLR, Morgan NV, Potluri S, Lowe G (2025) The diagnostic utility of genetic testing in inherited thrombocytopenia: regional multicenter tertiary experience. Res Pract Thromb Haemost. 9(3); 102869.

Stapley RJ, Sawkulycz X, Englert M, Araujo GHM, Quintanilla LG, Smith S, Ahmed A, Haining EJ, Kaur N, Bacon A, Pisarev AV, Poulter NS, Rayes J, Kavanagh D, Thomas SG, Montague SJ, Nagy Z, Morgan NV (2025) Platelet-specific SLFN14 deletion causes macrothrombocytopenia and reduced thrombin-mediated signaling through dysregulated gene expression in megakaryocytes and platelets. J Clin Invest. in press.

Luo M, Jia X, Wang Z-W, Yang J-Y, Wang W, Chen J, Ou J-Y, Feng J-X, Yu B, Wang S, Huang L, Morgan NV, Deng K, Chen T, Zhang Q, Gao S (2025) Structural and functional characterization of human SLFN14. Nucleic Acids Res. 22;53(10):gkaf484.

Huang J, Marini F, Solari FA, Swieringa F,de Laat B, De Simone I, Grassi L, Gui X, Li K, Middleton EA, Morgan NV, Provenzale I, Santos C, Schols S, Westbury S, Sickmann A, Rondina MT, Ruf W, Frontini M, Heemskerk JWM (2025) Human and mouse platelet transcriptomes and proteomes for phenotyping 3747 genes with hemostatic and platelet traits. Blood Vessel Thromb Hemost. 28;2(3):100068.

Barrachina MN, Pernes G, Becker IC, Allaeys I, Hirsch TI, Groeneveld DJ, Khan AO, Freire D, Guo K, Carminita E, Morgan PK, Collins TJ, Mellett NA, Wei Z, Almazni I, Italiano JE, Luyendyk J, Meikle PJ, Puder M, Morgan NV, Boilard E, Murphy AJ, Machlus KR (2024) Efficient megakaryopoiesis and platelet production require phospholipid remodeling and PUFA uptake through CD36. Nat. Cardiovasc. Res. 2(8), 746–763.

Montague SJ, Price J, Pennycott K, Pavey NJ, Martin EM, Thirlwell I, Kemble S, Monteiro C, Redmond-Motteram L, Lawson N, Reynolds K, Fratter C, Bignell P, Groenheide A, Huskens D, de Laat B, Pike JA, Poulter NS, Thomas SG, Lowe GC, Lancashire J, Harrison P, Morgan NV (2024) Comprehensive functional characterisation of a novel ANO6 variant in a new patient with Scott Syndrome. J Thromb Haemost. 22(8): 2281-2293.

Ross JE, Mohan S, Zhang J, Sullivan MJ, Bury L, Lee K, Futchi I, Frantz A, McDougal D, Botero JP, Cattaneo M, Cooper N, Downes K, Gresele P, Keenan C, Lee A, Megy K, Morange PE, Morgan NV, Schulze H, Zimowski K, Freson K, Lambert MP (2024) Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework. J Thromb Haemost. 22(3); 645-665.

Homan CC, Drazer MW, Yu K, Lawrence DM, Feng J, Arriola-Martinez L, Pozsgai MJ, McNeely KE, Ha T, Venugopal P, Arts P, King-Smith SL, Cheah J, Armstrong M, Wang P, Bödör C, Cantor AB, Cazzola M, Degelman E, DiNardo CD, Duployez N, Favier R, Fröhling S, Rio-Machin A, Klco JM, Krämer A, Kurokawa M, Lee J, Malcovati L, Morgan NV, Natsoulis G, Owen C, Patel KP, Preudhomme C, Raslova H, Rienhoff H, Ripperger T, Schulte R, Tawana K, Velloso E, Yan B, Kim E, Sood R, Hsu AP, Holland SM, Phillips K, Poplawski NK, Babic M, Wei AH, Forsyth C, Mar Fan H, Lewis ID, Cooney J, Susman R, Fox LC, Blombery P, Singhal D, Hiwase D, Phipson B, Schreiber AW, Hahn CN, Scott HS, Liu P, Godley LA, Brown AL; NISC Comparative Sequencing Program (2023) Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41. Blood Adv. 7(20):6092-6107.

Bastida JM, Malvestiti S, Boeckelmann D, Palma-Barqueros V, Wolter M, Lozano ML, Glonnegger H, Benito R, Zaninetti C, Sobotta F, Schilling FH, Morgan NV, Freson K, Rivera J, Zieger B (2022) A novel GATA1 variant in the C-terminal zinc finger compared with the platelet phenotype of patients with a likely pathogenic variant in the N-terminal zinc finger. Cells. 11: 3223.

Dalby A, Mezzano D, Miquel JF, Rivera J, Watson SP, Morgan NV (2022) Introduction of an ancient founder Glycoprotein VI (GP6) mutation into the Chilean population. Blood Advances 6(22): 5866-5869.

Lacey L, Webster SJ, Heath PR, Hill CJ, Wagner BE, Khan AO, Morgan NV, Makris M and Daly ME (2022) Sorting Nexin 24 is required for α-granule biogenesis and cargo delivery in megakaryocytes. Haematologica 107:1902-1913. 

Stapley RJ, Poulter NS, Khan AO, Smith CW, Bignell P, Fratter C, Lester W, Lowe G, Morgan NV (2022) Rare missense variants in Tropomyosin-4 (TPM4) are associated with platelet dysfunction, cytoskeletal defects and excessive bleeding. J Thromb Haemost. 20: 478-485.

Almazni I, Chudakou P, Dawson-Meadows A, Downes K, Freson K, Mason J, Page P, Reay K, Myers B, Morgan NV (2022) A novel RUNX1 exon 3 - 7 deletion causing a familial platelet disorder. Platelets 33: 320-323.

Khan AO, Slater A, Maclachlan A, Nicolson PLR, Pike JA, Reyat JS, Yule J, Stapley R, Rayes J, Thomas SG, Morgan NV (2022) Post-translational polymodification of β1-tubulin regulates motor protein localisation in platelet production & function. Haematologica 107: 243-259. 

Almazni I, Chudakou P, Dawson-Meadows A, Downes K, Freson K, Mason J, Page P, Reay K, Myers B, Morgan NV (2021) A novel RUNX1 exon 3 - 7 deletion causing a familial platelet disorder. Platelets.

Stapley RJ, Smith CW, Haining EJ, Bacon A, Lax S, Pisareva VP, Pisarev AV, Watson SP, Khan AO, Morgan NV (2021) Heterozygous mutation SLFN14-K208N in mice mediates species-specific differences in platelet and erythroid lineage commitment. Blood Advances 5: 377-390.

Homan CC, King-Smith SL, Lawrence DM, Arts P, Feng J, Andrews J, Armstrong M, Ha T, Dobbins J, Drazer M, Yu K, Bodor C, Cantor A, Cazzola M, Degelman E, Dinardo C, Duployez N, Favier R, Fröhling S, Fitzgibbon J, Klco J, Krämer A, Kurokawa M, Lee J , Malcovati L, Morgan NV, Natsoulis G, Owen C, Patel KP, Preudhomme C, Raslova H, Rienhoff H, Ripperger T, Schulte R, Tawana K, Velloso E, Yan B, Liu B, Godley L, Schreiber AW, Hahn CN, Scott HS, Brown AL (2021) The RUNX1 Database (RUNX1db): Establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy. Haematologica 106: 3004-3007.

Megy K, Downes K, Morel-Kopp M-C, Bastida JM, Brooks S, Bury L, Leinoe E, Gomez K, Morgan NV, Othman M, Ouwehand WH, Perez Botero J, Rivera J, Schulze H, Trégouët D-A, Freson K on behalf of the Subcommittee on Genomics in Thrombosis and Hemostasis. (2021) GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis. J Thromb Haemost. 19: 2612-2617.

Khan AO, Stapley R, Pike JA, Wijesinghe SN, Reyat JS, Almazni I, Machlus KR, Morgan NV (2020) Novel gene variants in patients with platelet-based bleeding using combined exome sequencing and RNAseq murine expression data. J Thromb Haemost 19: 262-268.

Almazni I, Stapley RJ, Khan AO, Morgan NV (2020) A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants. Human Mutation 41: 1848-1865.

Khan AO, Maclachlan A, Lowe GC, Nicolson PLR, Al Ghaithi R, Thomas SG, Watson SP, Pike JA, Morgan NV (2020) High-throughput platelet spreading analysis: A tool for the diagnosis of platelet-based bleeding disorders. Haematologica 105: 124-128.

Lowe GC, Fickowska R, Al Ghaithi R, Maclachlan A, Harrison P, Lester W, Watson SP, Myers B, Clark J, Morgan NV (2019) Investigation of the contribution of an underlying platelet defect in patients with unexplained heavy menstrual bleeding. Platelets 30: 56-65. (Plenary paper)

Al Ghaithi R, Mori J, Nagy Z, Maclachlan A, Hardy L, Philippou H, Hethershaw E, Morgan NV, Senis YA, Harrison P (2018) Evaluation of the Total Thrombus-Formation System (T-TAS): application to human and mouse blood analysis. Platelets 30: 893-900.

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 (2018) A Comprehensive Targeted Next-Generation Sequencing Panel for Genetic Diagnosis of patients with suspected inherited thrombocytopenia. Res Pract Thromb Haemost 2: 640-652.

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 M, Gomez K, Freson K, Rivera J, Mumford AD (2018) Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder. Blood Adv 2:2341-2346

Futterer J, Dalby A, Lowe GC, Johnson B, Simpson MA, Motwani J, Williams M, Watson SP, Morgan NV (2018) Mutation in GNE is associated with a severe form of congenital thrombocytopenia. Blood 132: 1855-1858.

Bastida JM, Lozano ML, Benito R, Janusz K, Palma-Barqueros V, Del Rey M, Hernández-Sánchez JM, Riesco S, Bermejo N, González-GarcíaH, 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 (2017) Introducing high-throughput sequencing into mainstream of genetic diagnosis practice in inherited platelet disorders. Haematologica 103: 148-162.

Al Ghaithi R, Drake S, Watson SP, Morgan NV, Harrison P; on behalf of the UK GAPP Study Group (2017) Comparison of multiple electrode aggregometry with lumi-aggregometry for the diagnosis of patients with mild bleeding disorders. J Thromb Haemost 15: 2045-2052.

Maclachlan A, Dolan G, Grimley C, Watson SP, Morgan NV; The UK GAPP Study Group (2017) Whole exome sequencing identifies a mutation in thrombomodulin as the genetic cause of a suspected platelet disorder in a family with normal platelet function. Platelets 28:611-13.

Johnson B, Lowe GC, Futterer J, Lordkipanidzé M, MacDonald D, Simpson MA, Sánchez Guiú I, Drake S, Bem D, Leo V, Fletcher SJ, Dawood B, Rivera J, Allsup D, Biss T, Bolton-Maggs PHB, 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; The UK GAPP Study Group (2016) Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects. Haematologica in press

Maclachlan A, Watson SP, Morgan NV (2016) Inherited Platelet Disorders: Insight from Platelet Genomics using Next Generation Sequencing. Platelets doi:10.1080/09537104.2016.1195492

Lozano ML, Cook A, Bastida JM, Paul DS, Iruin G, Cid AR, Adan-Pedrosa R, Gonzalez-Porras JR, Hernandez-Rivas JM, Fletcher SJ, Johnson B, Morgan N, Ferrer-Marin F, Vicente V, Sondek J, Watson SP, Bergmeier W, Rivera. (2016) Novel mutations in RASGRP2 encoding for CalDAG-GEFI abrogate Rap1 activation causing platelet dysfunction. Blood in press

Johnson B, Fletcher SJ, Morgan NV (2016) Inherited thrombocytopenia: Novel insights into megakaryocyte maturation, proplatelet formation and platelet lifespan. Platelets doi:10.3109/09537104.2016.1148806

Fletcher SJ, Johnson B, Lowe GC, Bem D, Drake S, Lordkipanidzé M, Sánchez Guiú I,Dawood B, Rivera J, Simpson MA, Daly ME, Motwani J, Collins PW, Watson SP, Morgan NV (2015) SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects. J Clin Invest, 125 (9), 3600-05.

Jones ML, Norman JE, Morgan NV, Mundell SJ, Lordkipanidzé M, Lowe GC, Daly ME, Simpson MA, Drake S, Watson SP, Mumford AD; on behalf of the UK GAPP study group (2015) Diversity and impact of rare variants in genes encoding the platelet G protein-coupled receptors. Thromb Haemost 113(3) [Epub ahead of print]

Leo V, Morgan N, Bem D, Jones M, Lowe G, Lordkipanidzé M, Drake S, Simpson M, Gissen P, Mumford A, Watson S, Daly M; The UK GAPP Study Group (2014) Use of next generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders. J Thromb Haemost [Epub ahead of print]

Nisar S, Lordkipanidze M, Jones ML, Dawood BB, Murden S, Cunningham MR, Mumford AD, Wilde JT, Watson SP, Mundell SJ and Lowe GC (2014) A novel thromboxane A₂receptor N42S variant results in reduced surface expression and platelet dysfunction. Thromb Haemost111(5):923-32 http://www.ncbi.nlm.nih.gov/pubmed/24452735

Lordkipanidze M, Lowe G, Kirkby NS, Chan M, Lundberg M, Morgan NV, Bem D, Nisar S, Leo V, Jones LJ, Mundell SJ, Daly ME, Mumford A, Warner TD and Watson SP (2014) Characterization of multiple platelet activation pathways in patients with bleeding as a high-throughput screening option: use of 96-well Optimulassay. e-Blood 123:e11-e22 http://www.ncbi.nlm.nih.gov/pubmed/24408324

Patel YM, Lowe GC, Lordkipanidzé M, Nisar SP, Garner K, Stockley J, Daly M, Watson SP, Austin SK and Mundell S (2014) A novel mutation in the P2Y₁₂ receptor and a function-reducing polymorphism in PAR-1 results in chronic bleeding in a patient. J Thromb Haemost12:716-25 http://www.ncbi.nlm.nih.gov/pubmed/24612435

Dovlatova N, Lordkipanidzé M, Lowe GC, Dawood B, May J, Heptinstall S, Watson SP and Fox SC (2014) Evaluation of a whole blood remote platelet function test for the diagnosis of mild bleeding disorders. J Thromb Haemost 12(5):660-5 http://www.ncbi.nlm.nih.gov/pubmed/24618131

Daly ME, Leo VC, Lowe GC, Watson SP and Morgan NV (2014) What is the role of genetic testing in the investigation of patients with suspected platelet function disorders? Br J Haematol165:193-203 http://www.ncbi.nlm.nih.gov/pubmed/24479992

Lowe GC, Sánchez Guiu L, Chapman O, Rivera J, Lordkipanidzé M, Dovlatova N, Wilde J, Watson SP and Morgan NV (2013) The use of microsatellite markers provides a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: identification of the second HPS7 mutation in a patient presenting late in life. Thromb Haemost 109:766-8 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3641626/

Lowe G, Lordkipanidze M and Watson SP (2013) Utility of the ISTH Bleeding Assessment Tool in predicting platelet defects in participants with suspected inherited platelet function disorders. J Thromb Haemost11(9):1663–1668 http://www.ncbi.nlm.nih.gov/pubmed/23809206

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 and Daly ME (2013) Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects. Blood 122(25):4090-3

Lordkipanidzé M, Lowe GC and Watson SP (2013) Simultaneous measurement of ATP release and LTA does not potentiate platelet aggregation to epinephrine. Thromb Haemost 110(1):199-201

Mumford AD, Nisar S, Darnige L, Jones ML, Bachelot-Loza C, Gandrille S, Zinzindohoue F, Fischer AM, Mundell SJ and Gaussem P (2013) Platelet dysfunction associated with the novel Trp29Cys thromboxane A2 receptor variant. J Thromb Haemost 11(3):547-54

Watson SP, Lowe GC, Lordkipanidzé M, Morgan NV(2013) Genotyping and phenotyping of platelet function disorders. J Thromb Haemost 11(1):351-63

Dawood BB, Lowe GC, Lordkipanidzé M, Bem D, Daly ME, Makris M, Mumford A, Wilde JT and Watson SP(2012) Evaluation of participants with suspected heritable platelet function disorders including recommendation and validation of a streamlined agonist panel. Blood 120(25):5041-9 Download document [pdf. 1.4MB]

Jones ML, Murden SL, Bem D, Mundell SJ, Gissen P, Daly ME, Watson SP and Mumford AD(2012) Rapid genetic diagnosis of heritable platelet function disorders using next generation sequencing: proof-of-principle with Hermansky-Pudlak syndrome. J Thromb Haemost 10:306-9 Download document [pdf, 205KB]

Nisar S, Daly ME, Federici AB, Artoni A, Mumford A, Watson SP and Mundell S (2011) An intact PDZ-motif is essential for correct P2Y12 purinoceptor traffic in human platelets. Blood118:5641-51 Download document [pdf, 771KB]

Nash C, Severin S, Makris M, Mumford A, Wilde J, Senis Y and Watson SP (2010) Src kinases are essential for primary aggregation by Gi-coupled receptors. J Thromb Haemost8:2294-304 Download document [pdf, 333KB]

Mumford AD, Dawood BB, Daly ME, Murden SL, Williams MD, Protty MB, Spalton JC, Wheatley M, Mundell SJ and Watson SP (2010) A novel thromboxane A2 receptor D304N variant that abrogates ligand binding in a patient with a bleeding diathesis. Blood115(2):363-9 Download document [pdf, 323KB]

Watson S, Daly M, Dawood B, Gissen P, Makris M, Mundell S, Wilde J and Mumford A (2010) Phenotypic approaches to gene mapping in platelet function disorders - identification of new variant of P2Y12, TxA2 and GPVI receptors. Hamostaseologie30(1):29-38 Review Download document [pdf, 127KB]

Daly ME, Dawood BB, Lester WA, Peake IR, Rodeghiero F, Goodeve AC, Makris M, Wilde JT, Mumford AD, Watson SP and Mundell SJ (2009) Identification and characterisation of a novel P2Y12 variant in a patient diagnosed with type 1 von Willebrand disease in the European MCMDM-1VWD study. Blood 113:4110-3 Download document [pdf, 247KB]

Dawood BB, Wilde J and Watson SP (2007) Reference curves for aggregation and ATP secretion to aid diagnose of platelet-based bleeding disorders: effect of inhibition of ADP and thromboxane A(2) pathways. Platelets18(5):329-45 Download document [pdf, 1.5MB]

Morgan NV, Pasha S, Johnson CA, Ainsh JR, Eady RAJ, Dawood BB, McKeown C, Trembath RC, Wilde J, Watson SP and Maher ER (2006) A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). Am J Human Gen 78:160-6 Download document [pdf, 989KB]