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Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Genome medicine, 2018-12, Vol.10 (1), p.95-95, Article 95

2018

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Implementation of individualised polygenic risk score analysis: a test case of a family of four

BMC medical genomics, 2022-10, Vol.15 (Suppl 3), p.1-207, Article 207

2022

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Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood

HGG advances, 2022-07, Vol.3 (3), p.100113-100113, Article 100113

2022

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Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy

Journal of the American Society of Nephrology, 2020-02, Vol.31 (2), p.365-373

2020

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Whole Genome Interpretation for a Family of Five

Frontiers in genetics, 2021-03, Vol.12, p.535123-535123

2021

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De novo variant in tyrosine kinase SRC causes thrombocytopenia: case report of a second family

Platelets (Edinburgh), 2019-10, Vol.30 (7), p.931-934

2019

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Comparative Genomics Allows the Discovery of Cis-Regulatory Elements in Mosquitoes

Proceedings of the National Academy of Sciences - PNAS, 2009-03, Vol.106 (9), p.3053-3058

2009

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ArrayExpress update--simplifying data submissions

Nucleic acids research, 2015-01, Vol.43 (Database issue), p.D1113

2015

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Advances in understanding the pathogenesis of hereditary macrothrombocytopenia

British journal of haematology, 2021-10, Vol.195 (1), p.25-45

2021

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

Journal of thrombosis and haemostasis, 2019-08, Vol.17 (8), p.1253-1260

2019

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How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study

Neurology, 2019-11, Vol.93 (22), p.e2007

2019

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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

Journal of thrombosis and haemostasis, 2021-10, Vol.19 (10), p.2612-2617

2021

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Moving ＂Forward＂ in Plasmodium Genetics through a Transposon-Based Approach

Journal of Tropical Medicine, 2012-01, Vol.2012, p.829210-7

2012

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Comprehensive Description of Monoallelic GP1BA Variants Associated with Thrombocytopenia

Blood, 2020-11, Vol.136 (Supplement 1), p.34-35

2020

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Corrigendum to 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 [J Thromb Haemost. 2021 Oct;19(10):2612-2617]

Journal of thrombosis and haemostasis, 2023-04, Vol.21 (4), p.1067-1067

2023

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First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease

American journal of respiratory and critical care medicine, 2022-12, Vol.206 (12), p.1522-1533

2022

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Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model

Pediatric nephrology (Berlin, West), 2022-11, Vol.37 (11), p.2643-2656

2022

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Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

Blood, 2020-10, Vol.136 (17), p.1956-1967

2020

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Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework

Journal of thrombosis and haemostasis, 2024-03, Vol.22 (3), p.645-665

2024

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First Genotype–Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease

American journal of respiratory and critical care medicine, 2022-12, Vol.206 (12), p.1522-1533

2022

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Effectiveness and costs of a stepwise versus an all‐in‐one approach to diagnose mild bleeding disorders

British journal of haematology, 2023-03, Vol.200 (6), p.792-801

2023

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Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Implementation of individualised polygenic risk score analysis: a test case of a family of four

Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood

Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy

Whole Genome Interpretation for a Family of Five

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia

De novo variant in tyrosine kinase SRC causes thrombocytopenia: case report of a second family

Comparative Genomics Allows the Discovery of Cis-Regulatory Elements in Mosquitoes

ArrayExpress update--simplifying data submissions

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders

Advances in understanding the pathogenesis of hereditary macrothrombocytopenia

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

How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study

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

Moving ＂Forward＂ in Plasmodium Genetics through a Transposon-Based Approach

Comprehensive Description of Monoallelic GP1BA Variants Associated with Thrombocytopenia

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants

Corrigendum to 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 [J Thromb Haemost. 2021 Oct;19(10):2612-2617]

First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease

Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework

First Genotype–Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease

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

Effectiveness and costs of a stepwise versus an all‐in‐one approach to diagnose mild bleeding disorders

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