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

Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel

(2021) Justyne E. Ross et al.   Blood Advances

Guidance on the diagnosis and management of Platelet- type von Willebrand Disease: a communication from the platelet physiology subcommittee of the ISTH

(2020) Maha Othman et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

A structural variation reference for medical and population genetics

(2020) Ryan L. Collins et al.   NATURE

Clinical management, ethics and informed consent related to multi‐gene panel‐based high throughput sequencing testing for platelet disorders: Communication from the SSC of the ISTH

(2020) Kate Downes et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

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

(2020) Fabienne Ver Donck et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Exome sequencing and characterization of 49,960 individuals in the UK Biobank

(2020) Cristopher V. Van Hout et al.   NATURE

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

Next‐generation sequencing for the diagnosis of MYH9 ‐RD: predicting pathogenic variants

(2019) Loredana Bury et al.   HUMAN MUTATION

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

(2017) K. Freson et al.   JOURNAL OF 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

Hermansky-Pudlak syndrome

(2014) I. Sánchez-Guiu et al.   Hamostaseologie