ArticleHaematologica2018
Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.
Open access · goldAbstract read
In one paragraph
Article in Haematologica, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 64 papers.
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64citing papers in PubMed
10.4field-weighted citation impact, top 1% of its field
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Who cites it
64 citing papers in PubMed, 120 citations in OpenAlex.
- Complications of whole-exome sequencing for causal gene discovery in primary platelet secretion defects.Haematologica · 2019Trial
- Inherited Platelet GPIV Deficiency: First Description of a Series of Unrelated Patients with Bleeding Diathesis.Biomolecules · 2026Article
- Clinical and Genetic Characterization of 269 Patients With Suspected Inherited Platelet Disorders: The Padua Monocentric Experience.International journal of laboratory hematology · 2026Article
- Article
- A proactive large platelet-driven screening strategy for the early recognition of MYH9-related disease: a Chinese prospective cohort study.Research and practice in thrombosis and haemostasis · 2026Article
- Co-inheritance of ITGA2B and TUBB1 variants in a family reveals distinct genetic contributions to platelet dysfunction.British journal of haematology · 2026Article
- Efficacy and safety of recombinant activated factor VII for secondary prophylaxis in patients with Glanzmann thrombasthenia.Research and practice in thrombosis and haemostasis · 2026Observational
- The co-inheritance of twoHaematologica · 2026Article
- Molecular diagnosis of inherited platelet disorder via a targeted whole-exome virtual gene panel: a 5-year institutional experience.Research and practice in thrombosis and haemostasis · 2026Article
- Improvement in health‑related quality of life in patients with heavy menstrual bleeding after treatment and its association with hereditary bleeding disorders.BMC women's health · 2026Article
- Molecular diagnosis of inherited platelet disorders: a tale of two realities - advanced vs. resource-limited setting.Thrombosis journal · 2025Review
- Characterization of Novel Variants inBiomolecules · 2025Article
- How genetic advances are being translated into improved diagnostic outcomes for patients with inherited bleeding disorders.Blood vessels, thrombosis & hemostasis · 2025Review
- Insights into the clinical, platelet and genetic landscape of inherited thrombocytopenia with malignancy risk.British journal of haematology · 2025Article
- Human and mouse platelet transcriptomes and proteomes for phenotyping 3474 genes with hemostatic and platelet traits.Blood vessels, thrombosis & hemostasis · 2025Article
- Implementation and clinical utility of multigene panels for bleeding, platelet, and thrombotic disorders.Journal of thrombosis and haemostasis : JTH · 2025Review
- Diagnosis of Inherited Platelet Disorders: Clinical Evaluation and Functional and Molecular Assays.Biomolecules · 2025Review
- Examining the Effects of the RUNX1 p.Leu43Ser Variant on FPD/AML Phenotypes Using a CRISPR/Cas9-Generated Knock-In Murine Model.Biomolecules · 2025Article
- Spectrum ofJournal of medical genetics · 2024Review
- Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.Haematologica · 2023Article
4 more citing papers are in PubMed but not listed here.
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Authors and funding
22 authors at 14 institutions in 4 countries.
José M BastidaServicio de Hematología, Hospital Universitario de Salamanca-IBSAL-USAL, Spain jmbastida@saludcastillayleon.es jose.rivera@carm.es.
María L LozanoServicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, CB15/00055-CIBERER, Spain.
Rocío BenitoIBSAL, IBMCC, CIC, Universidad de Salamanca-CSIC, Spain.
Kamila JanuszIBSAL, IBMCC, CIC, Universidad de Salamanca-CSIC, Spain.
Verónica Palma-BarquerosServicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, CB15/00055-CIBERER, Spain.
Mónica Del ReyIBSAL, IBMCC, CIC, Universidad de Salamanca-CSIC, Spain.
Jesús M Hernández-SánchezIBSAL, IBMCC, CIC, Universidad de Salamanca-CSIC, Spain.
Susana RiescoServicio de Pediatría, Hospital Universitario de Salamanca-IBSAL, Spain.
Nuria BermejoServicio de Hematología, Complejo Hospitalario San Pedro Alcántara, Cáceres, Spain.
Hermenegildo González-GarcíaServicio de Pediatría, Hospital Clínico Universitario de Valladolid, Spain.
Agustín Rodriguez-AlénServicio de Hematología y Hemoterapia, Hospital Virgen de la Salud, Complejo Hospitalario de Toledo, Spain.
Carlos AguilarServicio de Hematología, Complejo Asistencial de Soria, Spain.
Teresa SevivasServiço de Imunohemoterapia, Sangue e Medicina Transfusional do Centro Hospitalar e Universitário de Coimbra, EPE, Portugal.
María F López-FernándezServicio Hematología y Hemoterapia, Complejo Hospitalario Universitario A Coruña, Spain.
Anna E MarnethDepartment of Laboratory Medicine, Laboratory of Hematology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, the Netherlands.
Bert A van der ReijdenDepartment of Laboratory Medicine, Laboratory of Hematology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, the Netherlands.
Neil V MorganBirmingham Platelet Group, Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, UK.
Steve P WatsonBirmingham Platelet Group, Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, UK.
Vicente VicenteOn behalf of the Project "Functional and Molecular Characterization of Patients with Inherited Platelet Disorders" of the Hemorrhagic Diathesis Working Group of the Spanish Society of Thrombosis and Haemostasis.
Jesús M Hernández-RivasServicio de Hematología, Hospital Universitario de Salamanca-IBSAL-USAL, Spain.
José RiveraServicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, CB15/00055-CIBERER, Spain.
José R González-PorrasServicio de Hematología, Hospital Universitario de Salamanca-IBSAL-USAL, Spain jmbastida@saludcastillayleon.es jose.rivera@carm.es.
Instituto de Investigación Biomédica de Salamanca · ESCentro de Investigación del Cáncer · ESRadboud Institute for Molecular Life Sciences · NLUniversity of Birmingham · GBCentro de Investigación Biomédica en Red · ESCentro Regional de Hemodonación · ESComplejo Asistencial Universitario de Palencia · ESComplexo Hospitalario Universitario A Coruña · ESHospitais da Universidade de Coimbra · PTHospital Clínico Universitario de Valladolid · ESHospital Virgen de la Salud · ESSpanish Society of Hematology and Hemotherapy · ESUniversidad de Murcia · ESUniversidad de Salamanca · ES
Funding
British Heart Foundation FS/13/70/30521British Heart Foundation FS/15/18/31317British Heart Foundation PG/13/36/30275
Abstract
Inherited platelet disorders are a heterogeneous group of rare diseases, caused by inherited defects in platelet production and/or function. Their genetic diagnosis would benefit clinical care, prognosis and preventative treatments. Until recently, this diagnosis has usually been performed
Indexed as
Genetic TestingHigh-Throughput Nucleotide SequencingAdolescentAdultAgedAged, 80 and overBlood Platelet DisordersBlood PlateletsChildChild, PreschoolFemaleGenetic Association StudiesGenetic Diseases, InbornGenetic Predisposition to DiseaseHumansInfant
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.