ArticleHemaSphere2019
The Complexity of Genotype-Phenotype Correlations in Hereditary Spherocytosis: A Cohort of 95 Patients: Genotype-Phenotype Correlation in Hereditary Spherocytosis.
Article in HemaSphere, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 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
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Who cites it
41 citing papers in PubMed, 73 citations in OpenAlex.
- Red blood cell metabolome maps disease burden, mutation class, and splenectomy status in hereditary spherocytosis.Blood red cells & iron · 2026Article
- In-depth analysis of osmotic gradient ektacytometry parameters across different genotypes in hereditary spherocytosis.British journal of haematology · 2026Article
- Clinical Characteristics and Gene Mutations of Hereditary Spherocytosis in 59 Chinese Children.Molecular genetics & genomic medicine · 2026Article
- Hereditary Spherocytosis: Linking Ion Transport Defects to Osmotic Gradient Ektacytometry Profiles-A Review.International journal of molecular sciences · 2026Review
- Expanding the genetic landscape ofFrontiers in genetics · 2026Article
- Understanding the genetic architecture and phenotypic landscape of SPTB gene variants causing hereditary spherocytosis in an Indian cohort.Human genetics · 2025Article
- Multigene Panel Testing Reveals Novel Variants in Hereditary Spherocytosis Patients in TürkiyeTurkish journal of haematology : official journal of Turkish Society of Haematology · 2025Article
- A novelFrontiers in pediatrics · 2025Article
- Genotype clinical phenotype analysis of 35 cases of hereditary spherocytosis in children.Frontiers in pediatrics · 2025Article
- An overview of hereditary spherocytosis and the curative effects of splenectomy.Frontiers in physiology · 2025Review
- Clinical characteristics of hereditary spherocytosis with red blood cell membrane protein gene variants.Frontiers in pediatrics · 2025Article
- Clinical and genetic characteristics of Chinese pediatric and adult patients with hereditary spherocytosis.Orphanet journal of rare diseases · 2024Article
- Precise diagnosis of a hereditary spherocytosis patient with complicated hematological phenotype.Molecular genetics and genomics : MGG · 2024Article
- A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes.HemaSphere · 2024Article
- Genetic screening strategy for children with hereditary spherocytosis in Jiangxi Province of China.Frontiers in pediatrics · 2024Article
- Hereditary Spherocytosis: Can Next-Generation Sequencing of the Five Most Frequently Affected Genes Replace Time-Consuming Functional Investigations?International journal of molecular sciences · 2023Article
- Genotype-degree of hemolysis correlation in hereditary spherocytosis.BMC genomics · 2023Article
- TRIM32 biallelic defects cause limb-girdle muscular dystrophy R8: identification of two novel mutations and investigation of genotype-phenotype correlation.Skeletal muscle · 2023Article
- Clinical and genetic diagnosis for 26 paitents with hereditary spherocytosis.Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2023Article
- Targeted next-generation sequencing identifies novel deleterious variants in ANK1 gene causing severe hereditary spherocytosis in Indian patients: expanding the molecular and clinical spectrum.Molecular genetics and genomics : MGG · 2023Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary spherocytosis (HS) is a phenotypically and genetically heterogeneous disease. With the increased use of Next Generation Sequencing (NGS) techniques in the diagnosis of red blood cell disorders, the list of unique pathogenic mutations underlying HS is growing rapidly. In this study, we aimed to explore genotype-phenotype correlation in 95 HS patients genotyped by targeted NGS as part of routine diagnostics (UMC Utrecht, Utrecht, The Netherlands). In 85/95 (89%) of patients a pathogenic mutation was identified, including 56 novel mutations.
Identifiers
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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.