ArticleHuman mutation2020
Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.
Article in Human mutation, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
24 citing papers in PubMed, 41 citations in OpenAlex.
- Clinical and functional evaluation of non-missense MYH9 variants in MYH9-related disease.Clinical and experimental nephrology · 2026Article
- MYH9: Structure, functions, and therapeutic implications in cancer and genetic disorders.Genes & diseases · 2026Review
- A case report of a family with MYH9 gene mutation-related disease in an ethnic minority group and literature review.BMC medical genomics · 2026Review
- Molecular diagnosis of inherited platelet disorders: a tale of two realities - advanced vs. resource-limited setting.Thrombosis journal · 2025Review
- Insights into the clinical, platelet and genetic landscape of inherited thrombocytopenia with malignancy risk.British journal of haematology · 2025Article
- Article
- Case Report: A Chinese family with MYH9-RD caused byFrontiers in pediatrics · 2025Article
- Article
- Review
- A nationwide survey of MYH9-related disease in Japan.Clinical and experimental nephrology · 2024Article
- Exploring the nexus between MYH9 and tumors: novel insights and new therapeutic opportunities.Frontiers in cell and developmental biology · 2024Review
- APOLD1 loss causes endothelial dysfunction involving cell junctions, cytoskeletal architecture, and Weibel-Palade bodies, while disrupting hemostasis.Haematologica · 2023Article
- Systematic identification of intron retention associated variants from massive publicly available transcriptome sequencing data.Nature communications · 2022Article
- Toward platelet transcriptomics in cancer diagnosis, prognosis and therapy.British journal of cancer · 2022Review
- Expanding the genetic spectrum of TUBB1-related thrombocytopenia.Blood advances · 2021Article
- Nephritis and Hearing Loss-Not All Roads Lead to Alport Syndrome.Kidney international reports · 2021Article
- 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 : JTH · 2021Article
- YTHDF2 alleviates cardiac hypertrophy via regulating Myh7 mRNA decoy.Cell & bioscience · 2021Article
- Spontaneous splenic rupture due to extramedullary haematopoiesis in a patient with inherited thrombocytopenia.Blood transfusion = Trasfusione del sangue · 2021Article
- Inherited Platelet Disorders: An Updated Overview.International journal of molecular sciences · 2021Review
Corrections and comments
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Authors and funding
37 authors at 18 institutions in 9 countries.
Funding
Abstract
The heterogeneous manifestations of MYH9-related disorder (MYH9-RD), characterized by macrothrombocytopenia, Döhle-like inclusion bodies in leukocytes, bleeding of variable severity with, in some cases, ear, eye, kidney, and liver involvement, make the diagnosis for these patients still challenging in clinical practice. We collected phenotypic data and analyzed the genetic variants in more than 3,000 patients with a bleeding or platelet disorder. Patients were enrolled in the BRIDGE-BPD and ThromboGenomics Projects and their samples processed by high throughput sequencing (HTS). We identified 50 patients with a rare variant in MYH9. All patients had macrothrombocytes and all except two had thrombocytopenia. Some degree of bleeding diathesis was reported in 41 of the 50 patients. Eleven patients presented hearing impairment, three renal failure and two elevated liver enzymes. Among the 28 rare variants identified in MYH9, 12 were novel. HTS was instrumental in diagnosing 23 patients (46%). Our results confirm the clinical heterogeneity of MYH9-RD and show that, in the presence of an unclassified platelet disorder with macrothrombocytes, MYH9-RD should always be considered. A HTS-based strategy is a reliable method to reach a conclusive diagnosis of MYH9-RD in clinical practice.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.