{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T00:56:45Z","timestamp":1759453005011,"version":"build-2065373602"},"reference-count":55,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T00:00:00Z","timestamp":1667260800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T00:00:00Z","timestamp":1667260800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T00:00:00Z","timestamp":1667260800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T00:00:00Z","timestamp":1667260800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T00:00:00Z","timestamp":1667260800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T00:00:00Z","timestamp":1667260800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T00:00:00Z","timestamp":1667260800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Blood Reviews"],"published-print":{"date-parts":[[2022,11]]},"DOI":"10.1016\/j.blre.2022.100972","type":"journal-article","created":{"date-parts":[[2022,5,16]],"date-time":"2022-05-16T17:53:57Z","timestamp":1652723637000},"page":"100972","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"special_numbering":"C","title":["Advances in the diagnosis of heritable platelet disorders"],"prefix":"10.1016","volume":"56","author":[{"given":"Keith","family":"Gomez","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.blre.2022.100972_bb0005","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1111\/bjh.17690","article-title":"Clinical and laboratory diagnosis of heritable platelet disorders in adults and children: a British Society for Haematology guideline","volume":"195","author":"Gomez","year":"2021","journal-title":"Br J Haematol"},{"key":"10.1016\/j.blre.2022.100972_bb0010","doi-asserted-by":"crossref","first-page":"1364","DOI":"10.1111\/jth.15263","article-title":"The ISTH bleeding assessment tool as predictor of bleeding events in inherited platelet disorders: communication from the ISTH SSC subcommittee on platelet physiology","volume":"19","author":"Gresele","year":"2021","journal-title":"J Thromb Haemost"},{"key":"10.1016\/j.blre.2022.100972_bb0015","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1016\/j.hoc.2019.01.008","article-title":"Inherited platelet disorders: a modern approach to evaluation and treatment","volume":"33","author":"Lambert","year":"2019","journal-title":"Hematol Oncol Clin North Am"},{"key":"10.1016\/j.blre.2022.100972_bb0020","unstructured":"UK National Haemophilia Database n.d. http:\/\/www.ukhcdo.org\/nhd\/ (accessed April 3, 2022)."},{"key":"10.1016\/j.blre.2022.100972_bb0025","unstructured":"Genetic and Rare Diseases Information Center n.d. https:\/\/rarediseases.info.nih.gov\/ (accessed April 3, 2022)."},{"key":"10.1016\/j.blre.2022.100972_bb0030","unstructured":"European Joint Programme Rare Diseases n.d. https:\/\/www.ejprarediseases.org\/ (accessed April 3, 2022)."},{"key":"10.1016\/j.blre.2022.100972_bb0035","unstructured":"UK Strategy for Rare Diseases n.d. https:\/\/www.gov.uk\/government\/collections\/rare-diseases (accessed April 3, 2022)."},{"key":"10.1016\/j.blre.2022.100972_bb0040","unstructured":"UKHCDO Annual Report 2019 & Bleeding Disorder Statistics for 2018\/2019 n.d. http:\/\/www.ukhcdo.org\/wp-content\/uploads\/2019\/11\/UKHCDO-Annual-Report-2019.pdf."},{"key":"10.1016\/j.blre.2022.100972_bb0045","doi-asserted-by":"crossref","first-page":"2062","DOI":"10.1111\/j.1538-7836.2008.03182.x","article-title":"Generation and validation of the condensed MCMDM-1VWD Bleeding questionnaire for von Willebrand disease","volume":"6","author":"Bowman","year":"2008","journal-title":"J Thromb Haemost"},{"key":"10.1016\/j.blre.2022.100972_bb0050","series-title":"Sexism in the management of bleeding disorders","first-page":"51","author":"Weyand","year":"2021"},{"key":"10.1016\/j.blre.2022.100972_bb0055","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1111\/hae.14349","article-title":"Use of electronic self-administered bleeding assessment tool in diagnosis of paediatric bleeding disorders","volume":"27","author":"Kaur","year":"2021","journal-title":"Haemophilia"},{"issue":"5497","key":"10.1016\/j.blre.2022.100972_bb0060","doi-asserted-by":"crossref","first-page":"1771","DOI":"10.1126\/science.290.5497.1771","article-title":"Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters","volume":"290","author":"Berge","year":"2000","journal-title":"Science"},{"key":"10.1016\/j.blre.2022.100972_bb0065","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1038\/79063","article-title":"Mutations in MYH9 result in the may-Hegglin anomaly, and Fechtner and Sebastian syndromes. The may-Heggllin\/Fechtner syndrome consortium","volume":"26","author":"Seri","year":"2000","journal-title":"Nat Genet"},{"key":"10.1016\/j.blre.2022.100972_bb0070","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1111\/j.1365-2141.2005.05658.x","article-title":"Genotype-phenotype correlation in MYH9-related thrombocytopenia","volume":"130","author":"Dong","year":"2005","journal-title":"Br J Haematol"},{"key":"10.1016\/j.blre.2022.100972_bb0075","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1002\/humu.23927","article-title":"Next-generation sequencing for the diagnosis of MYH9-RD: predicting pathogenic variants","volume":"41","author":"Bury","year":"2020","journal-title":"Hum Mutat"},{"key":"10.1016\/j.blre.2022.100972_bb0080","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1111\/bjh.14471","article-title":"Dawning of the age of genomics for platelet granule disorders: improving insight, diagnosis and management","volume":"176","author":"Bariana","year":"2017","journal-title":"Br J Haematol"},{"issue":"Suppl. 1","key":"10.1016\/j.blre.2022.100972_bb0085","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1111\/ijlh.12999","article-title":"Inherited thrombocytopenia and platelet disorders with germline predisposition to myeloid neoplasia","volume":"41","author":"Galera","year":"2019","journal-title":"Int J Lab Hematol"},{"key":"10.1016\/j.blre.2022.100972_bb0090","unstructured":"RUNX1 Research Program n.d. https:\/\/www.runx1-fpd.org\/ (accessed April 9, 2022)."},{"key":"10.1016\/j.blre.2022.100972_bb0095","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1146\/annurev.immunol.22.012703.104753","article-title":"The BCR-ABL story: bench to bedside and back","volume":"22","author":"Wong","year":"2004","journal-title":"Annu Rev Immunol"},{"key":"10.1016\/j.blre.2022.100972_bb0100","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1038\/194927b0","article-title":"Aggregation of blood platelets by adenosine diphosphate and its reversal","volume":"194","author":"Born","year":"1962","journal-title":"Nature"},{"key":"10.1016\/j.blre.2022.100972_bb0105","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1111\/j.1538-7836.2006.01771.x","article-title":"Platelet physiology subcommittee of the scientific and standardization committee of the international society on thrombosis and Haemostasis. Platelet function analyzer (PFA)-100 closure time in the evaluation of platelet disorders and platelet function","volume":"4","author":"Hayward","year":"2006","journal-title":"J Thromb Haemost"},{"key":"10.1016\/j.blre.2022.100972_bb0110","doi-asserted-by":"crossref","first-page":"1183","DOI":"10.1111\/jth.12231","article-title":"Recommendations for the standardization of light transmission aggregometry: a consensus of the working party from the platelet physiology subcommittee of SSC\/ISTH","volume":"11","author":"Cattaneo","year":"2013","journal-title":"J Thromb Haemost"},{"key":"10.1016\/j.blre.2022.100972_bb0115","doi-asserted-by":"crossref","first-page":"7","DOI":"10.3109\/09537104.2011.596592","article-title":"Comparison of different procedures to prepare platelet-rich plasma for studies of platelet aggregation by light transmission aggregometry","volume":"23","author":"Femia","year":"2012","journal-title":"Platelets"},{"key":"10.1016\/j.blre.2022.100972_bb0120","doi-asserted-by":"crossref","first-page":"778","DOI":"10.1002\/rth2.12140","article-title":"A multicenter study to evaluate automated platelet aggregometry on Sysmex CS-series coagulation analyzers-preliminary findings","volume":"2","author":"Platton","year":"2018","journal-title":"Res Pract Thromb Haemost"},{"key":"10.1016\/j.blre.2022.100972_bb0125","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1111\/ijlh.12937","article-title":"Comparison of light transmission aggregometry and multiple electrode aggregometry for the evaluation of patients with mucocutaneous bleeding","volume":"41","author":"Sun","year":"2019","journal-title":"Int J Lab Hematol"},{"key":"10.1016\/j.blre.2022.100972_bb0130","doi-asserted-by":"crossref","first-page":"560","DOI":"10.1111\/bjh.14668","article-title":"Quality assurance and tests of platelet function","volume":"181","author":"Jennings","year":"2018","journal-title":"Br J Haematol"},{"key":"10.1016\/j.blre.2022.100972_bb0135","series-title":"Development of North American Consensus Guidelines for Medical Laboratories That Perform and Interpret Platelet Function Testing Using Light Transmission Aggregometry CME \/ SAM","first-page":"955","author":"Hayward","year":"2010"},{"key":"10.1016\/j.blre.2022.100972_bb0140","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1038\/nature10659","article-title":"New gene functions in megakaryopoiesis and platelet formation","volume":"480","author":"Gieger","year":"2011","journal-title":"Nature"},{"key":"10.1016\/j.blre.2022.100972_bb0145","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1080\/095371002220148332","article-title":"Mean platelet volume as an indicator of platelet activation: methodological issues","volume":"13","author":"Park","year":"2002","journal-title":"Platelets"},{"key":"10.1016\/j.blre.2022.100972_bb0150","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1155\/2019\/9213074","article-title":"Mean platelet volume (MPV): new perspectives for an old marker in the course and prognosis of inflammatory conditions","volume":"2019","author":"Korniluk","year":"2019","journal-title":"Mediators Inflamm"},{"key":"10.1016\/j.blre.2022.100972_bb0155","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1111\/j.1751-553X.2011.01396.x","article-title":"Mean platelet volume: comparison of three analysers towards standardization of platelet morphological phenotype","volume":"34","author":"Latger-Cannard","year":"2012","journal-title":"Int J Lab Hematol"},{"key":"10.1016\/j.blre.2022.100972_bb0160","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1097\/MBC.0000000000000220","article-title":"Evaluation of mean platelet volume with four hematological analyzers: harmonization is still an unresolved issue","volume":"26","author":"Lippi","year":"2015","journal-title":"Blood Coagul Fibrinolysis"},{"key":"10.1016\/j.blre.2022.100972_bb0165","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1309\/W612-MYEP-FA7U-8UYA","article-title":"Platelet counting by the RBC\/platelet ratio method","volume":"115","author":"ICSH","year":"2001","journal-title":"Am J Clin Pathol"},{"key":"10.1016\/j.blre.2022.100972_bb0170","doi-asserted-by":"crossref","first-page":"2131","DOI":"10.1111\/j.1538-7836.2009.03614.x","article-title":"Platelet size distinguishes between inherited macrothrombocytopenias and immune thrombocytopenia","volume":"7","author":"Noris","year":"2009","journal-title":"J Thromb Haemost"},{"key":"10.1016\/j.blre.2022.100972_bb0175","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.1111\/jth.13729","article-title":"Diagnosis of inherited platelet disorders on a blood smear: a tool to facilitate worldwide diagnosis of platelet disorders","volume":"15","author":"Greinacher","year":"2017","journal-title":"J Thromb Haemost"},{"key":"10.1016\/j.blre.2022.100972_bb0180","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1111\/jth.13269","article-title":"Super-resolution microscopy as a potential approach to diagnosis of platelet granule disorders","volume":"14","author":"Westmoreland","year":"2016","journal-title":"J Thromb Haemost"},{"key":"10.1016\/j.blre.2022.100972_bb0185","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1038\/312326a0","article-title":"Characterization of the human factor VIII gene","volume":"312","author":"Gitschier","year":"1984","journal-title":"Nature"},{"key":"10.1016\/j.blre.2022.100972_bb0190","doi-asserted-by":"crossref","first-page":"3736","DOI":"10.1021\/bi00335a049","article-title":"Nucleotide sequence of the gene for human factor IX (antihemophilic factor B)","volume":"24","author":"Yoshitake","year":"1985","journal-title":"Biochemistry"},{"issue":"2","key":"10.1016\/j.blre.2022.100972_bb0195","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1111\/hae.13947","article-title":"The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant Databases: Important Resources for Haemostasis Clinicians and Researchers","volume":"26","author":"Mcvey","year":"2020","journal-title":"Haemophilia"},{"key":"10.1016\/j.blre.2022.100972_bb0200","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1038\/35057062","article-title":"Initial sequencing and analysis of the human genome","volume":"409","author":"Lander","year":"2001","journal-title":"Nature"},{"key":"10.1016\/j.blre.2022.100972_bb0205","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1111\/jth.14479","article-title":"Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: communication from the SSC of the ISTH","volume":"17","author":"Megy","year":"2019","journal-title":"J Thromb Haemost"},{"key":"10.1016\/j.blre.2022.100972_bb0210","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1186\/s13073-015-0151-5","article-title":"Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders","volume":"7","author":"Furie","year":"2015","journal-title":"Genome Med"},{"key":"10.1016\/j.blre.2022.100972_bb0215","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1186\/s13073-015-0151-5","article-title":"Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders","volume":"7","author":"Westbury","year":"2015","journal-title":"Genome Med"},{"key":"10.1016\/j.blre.2022.100972_bb0220","doi-asserted-by":"crossref","first-page":"1839","DOI":"10.1111\/jth.14945","article-title":"Strengths and limitations of high-throughput sequencing for the diagnosis of inherited bleeding and platelet disorders","volume":"18","author":"ver Donck","year":"2020","journal-title":"J Thromb Haemost"},{"key":"10.1016\/j.blre.2022.100972_bb0225","doi-asserted-by":"crossref","first-page":"2082","DOI":"10.1182\/blood.2018891192","article-title":"Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders","volume":"134","author":"Downes","year":"2019","journal-title":"Blood"},{"key":"10.1016\/j.blre.2022.100972_bb0230","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1111\/jth.12836","article-title":"Use of next-generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders","volume":"13","author":"Leo","year":"2015","journal-title":"J Thromb Haemost"},{"key":"10.1016\/j.blre.2022.100972_bb0235","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1038\/s41431-020-0672-2","article-title":"Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation","volume":"29","author":"Quenez","year":"2021","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.blre.2022.100972_bb0240","doi-asserted-by":"crossref","first-page":"1154","DOI":"10.1373\/clinchem.2004.046490","article-title":"Genotyping the hemophilia inversion hotspot by use of inverse PCR","volume":"51","author":"Rossetti","year":"2005","journal-title":"Clin Chem"},{"key":"10.1016\/j.blre.2022.100972_bb0245","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1016\/j.tibtech.2018.07.013","article-title":"Single-molecule sequencing: towards clinical applications","volume":"37","author":"Ameur","year":"2019","journal-title":"Trends Biotechnol"},{"issue":"1","key":"10.1016\/j.blre.2022.100972_bb0250","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1111\/hae.13637","article-title":"Recommendations for the clinical interpretation of genetic variants and presentation of results to patients with inherited bleeding disorders. A UK Haemophilia Centre Doctors\u2019 Organisation Good Practice Paper","volume":"25","author":"Gomez","year":"2019","journal-title":"Haemophilia"},{"key":"10.1016\/j.blre.2022.100972_bb0255","doi-asserted-by":"crossref","first-page":"2751","DOI":"10.1111\/jth.14993","article-title":"Clinical management, ethics and informed consent related to multi-gene panel-based high throughput sequencing testing for platelet disorders: communication from the SSC of the ISTH","volume":"18","author":"Downes","year":"2020","journal-title":"J Thromb Haemost"},{"issue":"1","key":"10.1016\/j.blre.2022.100972_bb0260","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1038\/s42003-021-02982-6","article-title":"Ex vivo anticoagulants affect human blood platelet biomechanics with implications for high-throughput functional mechanophenotyping","volume":"5","author":"Sachs","year":"2022","journal-title":"Commun Biol"},{"key":"10.1016\/j.blre.2022.100972_bb0265","doi-asserted-by":"crossref","DOI":"10.1182\/bloodadvances.2021005446","article-title":"Src-related thrombocytopenia: a fine line between a megakaryocyte dysfunction and an immune-mediated disease","author":"Palma-Baqueros","year":"2022","journal-title":"Blood Adv"},{"key":"10.1016\/j.blre.2022.100972_bb0270","doi-asserted-by":"crossref","DOI":"10.3389\/fcvm.2021.766513","article-title":"Emerging microfluidic approaches for platelet mechanobiology and interplay with circulatory systems","volume":"8","author":"Zhang","year":"2021","journal-title":"Front Cardiovasc Med"},{"key":"10.1016\/j.blre.2022.100972_bb0275","first-page":"18","article-title":"HMB-001 - a novel bispecific antibody with potential for subcutaneous prophylactic treatment of multiple bleeding disorders - initial focus on Glanzmann Thrombasthenia","volume":"28","author":"Gandhi","year":"2022","journal-title":"Haemophilia"}],"container-title":["Blood Reviews"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0268960X22000467?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0268960X22000467?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,2]],"date-time":"2025-10-02T20:30:22Z","timestamp":1759437022000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0268960X22000467"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11]]},"references-count":55,"alternative-id":["S0268960X22000467"],"URL":"https:\/\/doi.org\/10.1016\/j.blre.2022.100972","relation":{},"ISSN":["0268-960X"],"issn-type":[{"type":"print","value":"0268-960X"}],"subject":[],"published":{"date-parts":[[2022,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Advances in the diagnosis of heritable platelet disorders","name":"articletitle","label":"Article Title"},{"value":"Blood Reviews","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.blre.2022.100972","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"100972"}}