Associated Papers
Curing the 'Incurable': First Successful Hematopoietic Stem Cell Transplantation in Severe Hereditary Spherocytosis with Homozygous SPTA1 Variant and Hepatic Fibrosis.
Koçak Göl D et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2026
Personalized and Tumor Informed Circulating Tumor DNA Assay for Molecular Residual Disease Monitoring of Solid Malignancies.
Liu L et al.
Medcomm, 2025
Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis.
Hartzell C et al.
Prenatal Diagnosis, 2025
Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.
Meintani A et al.
International Journal of Molecular Sciences, 2025
SPTA1-Related Hereditary Spherocytosis: Novel Compound Heterozygous Mutations With Severe Clinical Manifestation.
Khor J et al.
Cureus, 2025
Identification of novel variants in hereditary spherocytosis patients by whole-exome sequencing.
Qin L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025
Oncogene-Driven Non-Small Cell Lung Cancers in Patients with a History of Smoking Lack Smoking-Induced Mutations.
Huang CY et al.
Cancer Research, 2024
Transcript-specific induction of stop codon readthrough using a CRISPR-dCas13 system.
Manjunath LE et al.
Embo Reports, 2024
When alpha spectrin null alleles meet low expression alpha spectrin polymorphisms.
Fermo E et al.
British Journal of Haematology, 2023
Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.
Rosenberg S et al.
Molecular Oncology, 2023
Allogenic haematopoeitic stem cell transplant as cure for severe transfusion-dependent non-dominant hereditary spherocytosis due to homozygous SPTA1 mutation.
Ramanathan S et al.
Pediatric Blood & Cancer, 2023
Exome-Based Trio Analysis for Diagnosis of the Cause of Congenital Severe Hemolytic Anemia in a Child.
Rieneck K et al.
Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2022
Facilitating EMA binding test performance using fluorescent beads combined with next-generation sequencing.
Glenthøj A et al.
Ejhaem, 2021
Comprehensive molecular characterization of pediatric radiation-induced high-grade glioma.
DeSisto J et al.
Nature Communications, 2021
The Spectrum of SPTA1-Associated Hereditary Spherocytosis.
Chonat S et al.
Frontiers in Physiology, 2019
Next-Generation Sequencing Assay Raises New Questions in a Case of Metastatic Prostate Cancer.
Abadie JM et al.
The Journal of Applied Laboratory Medicine, 2018
Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden.
Chalmers ZR et al.
Genome Medicine, 2017
Longitudinal analysis of treatment-induced genomic alterations in gliomas.
Erson-Omay EZ et al.
Genome Medicine, 2017
Age-related mutations associated with clonal hematopoietic expansion and malignancies.
Xie M et al.
Nature Medicine, 2014
Severe nondominant hereditary spherocytosis due to uniparental isodisomy at the SPTA1 locus.
Bogardus H et al.
Haematologica, 2014
Molecular Genetic Mechanisms of Hereditary Spherocytosis: Current Perspectives.
He BJ et al.
Acta Haematologica, 0
Corrigendum: The Spectrum of SPTA1-Associated Hereditary Spherocytosis.
Chonat S et al.
Frontiers in Physiology, 0