Associated Papers
Clinical Utility of a Targeted Next-Generation Sequencing Panel for Inherited Platelet Disorders in Children.
Kaçar D et al.
Diagnostics (basel, Switzerland), 2025
A nonactivating ITGB3 mutation in the β3 cytoplasmic region causes macrothrombocytopenia with an impaired αIIbβ3/RhoA pathway.
Nakata K et al.
Blood Vessels, Thrombosis & Hemostasis, 2025
Improving access to exome sequencing in a medically underserved population through the Texome Project.
Vuocolo B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.
Marconi C et al.
Haematologica, 2023
Diagnosing Czech Patients with Inherited Platelet Disorders.
Louzil J et al.
International Journal of Molecular Sciences, 2022
"CHildren with Inherited Platelet disorders Surveillance" (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP).
Lassandro G et al.
Frontiers in Pediatrics, 2022
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.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum.
Morais S et al.
Plos One, 2020
Genome-wide linkage analysis and whole-exome sequencing identifies an ITGA2B mutation in a family with thrombocytopenia.
Khoriaty R et al.
British Journal of Haematology, 2019
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Arts P et al.
Genome Medicine, 2019
Mutations of the integrin αIIb/β3 intracytoplasmic salt bridge cause macrothrombocytopenia and enlarged platelet α-granules.
Favier M et al.
American Journal of Hematology, 2018
ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia.
Nurden AT et al.
Platelets, 2018
αIIbβ3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia.
Buitrago L et al.
Proceedings of the National Academy of Sciences of the United States of America, 2015