Strengths and limitations of high‐throughput sequencing for the diagnosis of inherited bleeding and platelet disorders

Glanzmann thrombasthenia: genetic basis and clinical correlates

(2020) Juliana Perez Botero et al.   HAEMATOLOGICA

Genetic screening of children with suspected inherited bleeding disorders

(2020) Nadine G. Andersson et al.   HAEMOPHILIA

The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant Databases: Important resources for haemostasis clinicians and researchers

(2020) John H. McVey et al.   HAEMOPHILIA

Diagnosis of hereditary platelet disorders in the era of next-generation sequencing:”primum non nocere”

(2019) Andreas Greinacher et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Outcome of an enhanced diagnostic pipeline for patients suspected of inherited thrombocytopenia

(2019) Eva Leinøe et al.   BRITISH JOURNAL OF HAEMATOLOGY

Simplifying the diagnosis of inherited platelet disorders? The new tools do not make it any easier

(2019) Andreas Greinacher et al.   BLOOD

Diagnostic high-throughput sequencing of 2,396 patients with bleeding, thrombotic and platelet disorders

(2019) Kate Downes et al.   BLOOD

Curated disease‐causing genes for bleeding, thrombotic and platelet disorders: communication from the SSC of the ISTH

(2019) Karyn Megy et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Molecular Diagnosis of Inherited Coagulation and Bleeding Disorders

(2019) José María Bastida et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS

ORVAL: a novel platform for the prediction and exploration of disease-causing oligogenic variant combinations

(2019) Alexandre Renaux et al.   NUCLEIC ACIDS RESEARCH

A Glanzmann thrombasthenia family associated with a TUBB 1 ‐related macrothrombocytopenia

(2019) Benoit Guillet et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)

(2019) Lora J. H. Bean et al.   GENETICS IN MEDICINE

High proportion of patients with bleeding of unknown cause in persons with a mild-to-moderate bleeding tendency: Results from the Vienna Bleeding Biobank (VIBB)

(2018) J. Gebhart et al.   HAEMOPHILIA

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

(2018) J. Heremans et al.   International Journal of Laboratory Hematology

Application of High-Throughput Sequencing in the Diagnosis of Inherited Thrombocytopenia

(2018) Qi Wang et al.   CLINICAL AND APPLIED THROMBOSIS-HEMOSTASIS

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

(2017) José M. Bastida et al.   HAEMATOLOGICA

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

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

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

(2017) José M. Bastida et al.   HAEMATOLOGICA

Rare variants inGP1BBare responsible for autosomal dominant macrothrombocytopenia

(2016) Suthesh Sivapalaratnam et al.   BLOOD

Inherited platelet disorders: toward DNA-based diagnosis

(2016) C. Lentaigne et al.   BLOOD

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

(2016) B. Johnson et al.   HAEMATOLOGICA

Design and application of a 23-gene panel by next-generation sequencing for inherited coagulation bleeding disorders

(2016) J. M. Bastida et al.   HAEMOPHILIA

Combined variants in factor VIII and prostaglandin synthase-1 amplify hemorrhage severity across three generations of descendants

(2016) D. Nance et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

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

(2016) B. Johnson et al.   HAEMATOLOGICA

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

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

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

ClinGen — The Clinical Genome Resource

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

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Genetic Modifiers and Oligogenic Inheritance

(2015) M. Kousi et al.   Cold Spring Harbor Perspectives in Medicine

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

(2013) J. Stockley et al.   BLOOD

Identification and characterization of a novel P2Y12 variant in a patient diagnosed with type 1 von Willebrand disease in the European MCMDM-1VWD study

(2009) M. E. Daly et al.   BLOOD