Identification of 8 Rare Deleterious Variants in ADAMTS13 by Next-generation Sequencing in a Chinese Population with Thrombotic Thrombocytopenic Purpura

Twelve years of SAMtools and BCFtools

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Association of Rare PTGIS Variants With Susceptibility and Pulmonary Vascular Response in Patients With Idiopathic Pulmonary Arterial Hypertension

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The International Hereditary Thrombotic Thrombocytopenic Purpura Registry: Key findings at enrolment until 2017

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An update on pathogenesis and diagnosis of thrombotic thrombocytopenic purpura

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Rare-variant collapsing analyses for complex traits: guidelines and applications

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Hereditary Thrombotic Thrombocytopenic Purpura

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OUP accepted manuscript

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The role of ADAMTS13 testing in the diagnosis and management of thrombotic microangiopathies and thrombosis

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Pathophysiology of thrombotic thrombocytopenic purpura and hemolytic uremic syndrome

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Consensus on the standardization of terminology in thrombotic thrombocytopenic purpura and related thrombotic microangiopathies

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Immunochip analysis identifies novel susceptibility loci in the human leukocyte antigen region for acquired thrombotic thrombocytopenic purpura

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High prevalence of hereditary thrombotic thrombocytopenic purpura in central Norway: from clinical observation to evidence

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Genetic variants in the ADAMTS13 and SUPT3H genes are associated with ADAMTS13 activity

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FRETS-VWF73 rather than CBA assay reflects ADAMTS13 proteolytic activity in acquired thrombotic thrombocytopenic purpura patients

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Congenital thrombotic thrombocytopenic purpura caused by new compound heterozygous mutations of theADAMTS13gene

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A phenotype-genotype correlation of ADAMTS13 mutations in congenital thrombotic thrombocytopenic purpura patients treated in the United Kingdom

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

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Evaluation of assay methods to measure plasma ADAMTS13 activity in thrombotic microangiopathies

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Fast and accurate short read alignment with Burrows-Wheeler transform

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ADAMTS13mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura

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