Platelet biology and functions: new concepts and clinical perspectives
PEJ van der Meijden, JWM Heemskerk - Nature Reviews Cardiology, 2019 - nature.com
Platelets—blood cells continuously produced from megakaryocytes mainly in the bone
marrow—are implicated not only in haemostasis and arterial thrombosis, but also in other …
marrow—are implicated not only in haemostasis and arterial thrombosis, but also in other …
Next-generation sequencing and emerging technologies
Genetic sequencing technologies are evolving at a rapid pace with major implications for
research and clinical practice. In this review, the authors provide an updated overview of …
research and clinical practice. In this review, the authors provide an updated overview of …
The human phenotype ontology in 2017
Deep phenotyping has been defined as the precise and comprehensive analysis of
phenotypic abnormalities in which the individual components of the phenotype are observed …
phenotypic abnormalities in which the individual components of the phenotype are observed …
[PDF][PDF] The human phenotype ontology in 2017
Deep phenotyping has been defined as the precise and comprehensive analysis of
phenotypic abnormalities in which the individual components of the phenotype are observed …
phenotypic abnormalities in which the individual components of the phenotype are observed …
[HTML][HTML] Emerging concepts in immune thrombocytopenia
M Swinkels, M Rijkers, J Voorberg… - Frontiers in …, 2018 - frontiersin.org
Immune thrombocytopenia (ITP) is an autoimmune disease defined by low platelet counts
which presents with an increased bleeding risk. Several genetic risk factors (eg …
which presents with an increased bleeding risk. Several genetic risk factors (eg …
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders
K Downes, K Megy, D Duarte, M Vries… - Blood, The Journal …, 2019 - ashpublications.org
A targeted high-throughput sequencing (HTS) panel test for clinical diagnostics requires
careful consideration of the inclusion of appropriate diagnostic-grade genes, the ability to …
careful consideration of the inclusion of appropriate diagnostic-grade genes, the ability to …
NGS technologies as a turning point in rare disease research, diagnosis and treatment
A Fernandez-Marmiesse, S Gouveia… - Current medicinal …, 2018 - ingentaconnect.com
Approximately 25-50 million Americans, 30 million Europeans, and 8% of the Australian
population have a rare disease. Rare diseases are thus a common problem for clinicians …
population have a rare disease. Rare diseases are thus a common problem for clinicians …
Hermansky–Pudlak syndrome: mutation update
M Huizing, MCV Malicdan, JA Wang… - Human …, 2020 - Wiley Online Library
Hermansky–Pudlak syndrome (HPS) is a group of 10 autosomal recessive multisystem
disorders, each defined by the deficiency of a specific gene. HPS‐associated genes encode …
disorders, each defined by the deficiency of a specific gene. HPS‐associated genes encode …
Hereditary thrombocytopenias: a growing list of disorders
P Noris, A Pecci - Hematology 2014, the American Society of …, 2017 - ashpublications.org
The introduction of high throughput sequencing (HTS) techniques greatly improved the
knowledge of inherited thrombocytopenias (ITs) over the last few years. A total of 33 different …
knowledge of inherited thrombocytopenias (ITs) over the last few years. A total of 33 different …
Inherited platelet disorders: toward DNA-based diagnosis
C Lentaigne, K Freson, MA Laffan… - Blood, The Journal …, 2016 - ashpublications.org
Variations in platelet number, volume, and function are largely genetically controlled, and
many loci associated with platelet traits have been identified by genome-wide association …
many loci associated with platelet traits have been identified by genome-wide association …