ArticleCold Spring Harbor molecular case studies2017
Whole-exome sequencing identifies an α-globin cluster triplication resulting in increased clinical severity of β-thalassemia.
Article in Cold Spring Harbor molecular case studies, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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
9 citing papers in PubMed, 17 citations in OpenAlex.
- Identification of a novel hereditary spherocytosis gene mutation in a Chinese child with α-globin gene triplication.MedScience · 2026Article
- The Molecular Pathology of Non-Malignant Haematological Disease.British journal of biomedical science · 2026Review
- Application of Targeted Next-Generation Sequencing for the Investigation of Thalassemia in a Developing Country: A Single Center Experience.Diagnostics (Basel, Switzerland) · 2023Article
- Next-Generation Sequencing (NGS) and Third-Generation Sequencing (TGS) for the Diagnosis of Thalassemia.Diagnostics (Basel, Switzerland) · 2023Review
- Applications of next generation sequencing in the screening and diagnosis of thalassemia: A mini-review.Frontiers in pediatrics · 2022Review
- Diagnosis of the accurate genotype of HKαα carriers in patients with thalassemia using multiplex ligation-dependent probe amplification combined with nested polymerase chain reaction.Chinese medical journal · 2020Article
- Omics Studies in Hemoglobinopathies.Molecular diagnosis & therapy · 2019Review
- Molecular characterization of β-thalassemia intermedia in the West Bank, Palestine.BMC hematology · 2019Article
- The Genetic Landscape of Diamond-Blackfan Anemia.American journal of human genetics · 2018Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
Abstract
Whole-exome sequencing (WES) has been increasingly useful for the diagnosis of patients with rare causes of anemia, particularly when there is an atypical clinical presentation or targeted genotyping approaches are inconclusive. Here, we describe a 20-yr-old man with a lifelong moderate-to-severe anemia with accompanying splenomegaly who lacked a definitive diagnosis. After a thorough clinical workup and targeted genetic sequencing, we identified a paternally inherited β-globin mutation (
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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 Socratic graph.