High-throughput sequencing for diagnosing platelet disorders: lessons learned from exploring the causes of bleeding disorders

Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome

(2018) Jessica Heremans et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Novel G6B gene variant causes familial autosomal recessive thrombocytopenia and anemia

(2017) Motasem Melhem et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders

(2017) José M. Bastida et al.   HAEMATOLOGICA

Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia

(2017) Irina Pleines et al.   JOURNAL OF CLINICAL INVESTIGATION

Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia

(2017) Takuya Takeichi et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

High-throughput sequencing approaches for diagnosing hereditary bleeding and platelet disorders

(2017) K. Freson et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Platelet function is modified by common sequence variation in megakaryocyte super enhancers

(2017) Romina Petersen et al.   Nature Communications

Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease

(2017) Walter H. A. Kahr et al.   Nature Communications

Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders

(2017) José M. Bastida et al.   HAEMATOLOGICA

Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases

(2016) Daniel Greene et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome

(2016) S. Ammann et al.   BLOOD

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

(2016) S. Stritt et al.   BLOOD

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

(2016) I. Simeoni et al.   BLOOD

Inherited platelet disorders: toward DNA-based diagnosis

(2016) C. Lentaigne et al.   BLOOD

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

(2016) William J. Astle et al.   CELL

Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects

(2016) B. Johnson et al.   HAEMATOLOGICA

The Human Phenotype Ontology in 2017

(2016) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

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

Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects

(2016) B. Johnson et al.   HAEMATOLOGICA

Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia

(2015) Tetsuya Niihori et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Macrothrombocytopenia and developmental delay with ade novo CDC42mutation: Yet another locus for thrombocytopenia and developmental delay

(2015) Toshiki Takenouchi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Diagnosis of inherited platelet function disorders: guidance from the SSC of the ISTH

(2015) P. Gresele et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia

(2015) Leila Noetzli et al.   NATURE GENETICS

ClinGen — The Clinical Genome Resource

(2015) Heidi L. Rehm et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding

(2014) Matthias Canault et al.   JOURNAL OF EXPERIMENTAL MEDICINE

GNE myopathy associated with congenital thrombocytopenia: A report of two siblings

(2014) Rumiko Izumi et al.   NEUROMUSCULAR DISORDERS

Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis

(2014) V. Nesin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ACTN1 Mutations Cause Congenital Macrothrombocytopenia

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

Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia

(2013) M. J. Dasouki et al.   BLOOD

Recommendations for the standardization of light transmission aggregometry: a consensus of the working party from the platelet physiology subcommittee of SSC/ISTH

(2013) M. Cattaneo et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

A Dominant-Negative GFI1B Mutation in the Gray Platelet Syndrome

(2013) Davide Monteferrario et al.   NEW ENGLAND JOURNAL OF MEDICINE

Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome

(2012) R. Badolato et al.   BLOOD

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

Genome-wide Analysis of Simultaneous GATA1/2, RUNX1, FLI1, and SCL Binding in Megakaryocytes Identifies Hematopoietic Regulators

(2011) Marloes R. Tijssen et al.   DEVELOPMENTAL CELL

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 identifies NBEAL2 as the causative gene for gray platelet syndrome

(2011) Cornelis A Albers et al.   NATURE GENETICS

ISTH/SSC bleeding assessment tool: a standardized questionnaire and a proposal for a new bleeding score for inherited bleeding disorders

(2010) F. RODEGHIERO et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS