Please see below lists of publications resulting from the GAPP project:


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.


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

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

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

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

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


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

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

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]

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]

Pre 2012

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]

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]

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]

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]

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]

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]

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]