Inherited platelet disorders: Insight from platelet genomics using next-generation sequencing

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

(2016) I. Simeoni et al.   BLOOD

A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies

(2016) Ernest Turro et al.   Science Translational Medicine

SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia

(2016) C. Marconi et al.   THROMBOSIS AND HAEMOSTASIS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects

(2015) Sarah J. Fletcher et al.   JOURNAL OF CLINICAL INVESTIGATION

Deleterious mutation in theFYBgene is associated with congenital autosomal recessive small-platelet thrombocytopenia

(2015) C. Levin et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Use of next-generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders

(2015) V. C. Leo et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy

(2015) Michael Y Zhang et al.   NATURE GENETICS

αIIbβ3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia

(2015) Lorena Buitrago et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders

(2015) Sarah K Westbury et al.   Genome Medicine

ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization

(2014) R. Bottega et al.   BLOOD

A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene

(2014) V. T. Manchev et al.   BLOOD

Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYBgene: case report

(2014) Hanan Hamamy et al.   BMC Medical Genetics

Lessons in platelet production from inherited thrombocytopenias

(2014) Alessandro Pecci et al.   BRITISH JOURNAL OF HAEMATOLOGY

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

ACTN1 Mutations Cause Congenital Macrothrombocytopenia

(2013) Shinji Kunishima et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects

(2013) J. Stockley et al.   BLOOD

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

The promise of whole-exome sequencing in medical genetics

(2013) Bahareh Rabbani et al.   JOURNAL OF HUMAN GENETICS

Genotyping and phenotyping of platelet function disorders

(2013) S. P. Watson et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

(2013) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

Rapid evaluation of platelet function using the Multiplate® Analyzer

(2013) Morten Würtz et al.   PLATELETS

Genetic Loci Associated with Platelet Traits and Platelet Disorders

(2013) Natalia Bunimov et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS

Not-so-incidental findings: the ACMG recommendations on the reporting of incidental findings in clinical whole genome and whole exome sequencing

(2013) Megan Allyse et al.   TRENDS IN BIOTECHNOLOGY

Next-generation sequencing: ready for the clinics?

(2012) AN Desai et al.   CLINICAL GENETICS

Points to consider in the clinical application of genomic sequencing

(2012)   GENETICS IN MEDICINE

Inherited platelet disorders

(2012) A. T. NURDEN et al.   HAEMOPHILIA

Genetics of familial forms of thrombocytopenia

(2012) Carlo L. Balduini et al.   HUMAN GENETICS

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

(2012) Cornelis A Albers et al.   NATURE GENETICS

What can exome sequencing do for you?

(2011) J. Majewski et al.   JOURNAL OF MEDICAL GENETICS

Advances in our understanding of the molecular basis of disorders of platelet function

(2011) A. NURDEN et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Rapid genetic diagnosis of heritable platelet function disorders with next-generation sequencing: proof-of-principle with Hermansky-Pudlak syndrome

(2011) M. L. JONES et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Exome sequencing: a transformative technology

(2011) Andrew B Singleton   LANCET NEUROLOGY

Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome

(2011) Cornelis A Albers et al.   NATURE GENETICS

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules

(2011) Meral Gunay-Aygun et al.   NATURE GENETICS

Family-based designs for genome-wide association studies

(2011) Jurg Ott et al.   NATURE REVIEWS GENETICS

Exome sequencing: the sweet spot before whole genomes

(2010) J. K. Teer et al.   HUMAN MOLECULAR GENETICS

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Inherited traits affecting platelet function

(2008) Isabelle I. Salles et al.   BLOOD REVIEWS

Managing Incidental Findings in Human Subjects Research: Analysis and Recommendations

(2008) Susan M. Wolf et al.   JOURNAL OF LAW MEDICINE & ETHICS