Associated Papers
Generation of two isogenic sickle cell disease induced pluripotent stem cell lines from ovarian fibroblasts.
Harancher MR et al.
Stem Cell Research, 2026
Missense substitutions in the BTB domain of ZBTB24 can lead to protein instability and cause ICF2 syndrome.
Givol O et al.
Human Molecular Genetics, 2026
Systematic Review of Non-Coding Genomic Variants in Globin and Non-Globin Clusters and Their Impact on Phenotypic Severity in Thalassemia and Sickle Cell Disease.
Al-Subaie AM et al.
Journal of Clinical Medicine, 2026
Fetal Hemoglobin Modulation in Sickle Cell Disease: βs Haplotypes, Key Polymorphisms Identified by GWAS, and Advances in γ-Globin Editing: An Updated Overview.
Márquez-Benitez Y et al.
Genes, 2026
miRNA-Mediated Regulation of γ-Globin to β-Globin Switching: Therapeutic Potential in β-Hemoglobinopathies.
Alotaibi D et al.
International Journal of Molecular Sciences, 2026
JoGo 1.0: the ACTG hierarchical nomenclature and database covering 4.7 million haplotypes across 19,194 human genes.
Nagasaki M et al.
Nucleic Acids Research, 2026
A tale of two variants: The first reported case of hemoglobin Rush and hemoglobin S in a compound heterozygote.
Berti ACM et al.
Clinical Biochemistry, 2026
Accuracy of direct mutation testing by TaqMan quantitative polymerase chain reaction for preimplantation genetic diagnosis of recurrent de novo mutations.
Garro D et al.
Fertility and Sterility, 2025
Universal preimplantation genetic testing for monogenic disease (Karyomapping): diagnosis of >1000 unique disorders with no detected misdiagnoses.
Schadwell A et al.
Human Reproduction (oxford, England), 2025
Prevention and control of thalassemia in Guangdong Province, Southern China: insights from an 11-year retrospective study.
Qin D et al.
Annals of Medicine, 2025
Genetics and context for precision health in Greater Boston.
Koyama S et al.
Nature Communications, 2025
Determination of the Frequency of HBB (c.20 A > T) Gene Mutation in the Nigerian and Zimbabwean Populations in Northern Cyprus.
Çobanoğulları H et al.
Biochemical Genetics, 2025
The application of next-generation sequencing technology in congenital haemolytic anaemia: a systematic review and meta-analysis.
Xie S et al.
Clinical and Experimental Medicine, 2025
Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program.
Cope HL et al.
Nature Medicine, 2025
Accurate diagnosis of hemoglobinopathies with machine learning based on high-throughput proteomics.
Wei S et al.
Hemasphere, 2025
Identification of a Patient with Transfusion-Dependent β-Thalassemia Caused by Compound Heterozygous Mutations of HBB: C.84_85insC and Common Linked Intronic Variants in HBB.
Qin L et al.
Hemoglobin, 2025
Rare Coexistence of Hemoglobin D-Iran and Hemoglobin S in a Case from Central India.
Rani P et al.
Hemoglobin, 2025
Genetic patterns & public health implications of sickle cell anaemia across populations: A systematic review.
Shrivastava M et al.
The Indian Journal of Medical Research, 2025
Improved genomic characterization of a clinically heterogeneous pediatric cohort with WGS vs. WES.
Brashear AM et al.
Scientific Reports, 2025
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
Severe Hemolytic Phenotype in Children With Sickle Cell Anemia and Co-Inherited Red Blood Cell Variants.
Srinivas M et al.
Pediatric Blood & Cancer, 2025
A Mass Spectrometry-Based Multiplexed Targeted Assay for Detection of Hemoglobinopathies from Dried Blood Spots.
Bellad A et al.
The Journal of Molecular Diagnostics : Jmd, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Human genetic variations conferring resistance to malaria.
Zhang X et al.
Journal of Translational Medicine, 2025
High-Resolution Genetic Profiling of Hb J-Meerut and Other Hemoglobin Variants in the Tharu Population via HPLC and DNA Sequencing.
Nigam N et al.
Diagnostics (basel, Switzerland), 2025
A Rare Tetrad of Sickle Cell Disease, Vascular Ehlers-Danlos Syndrome, Primary Ciliary Dyskinesia, and Phelan-McDermid Syndrome in a Saudi Child: A Complex Multisystem Pediatric Case Report.
Gohal G
Pediatric Reports, 2025
De novo rates of a Trypanosoma-resistant mutation in two human populations.
Melamed D et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Influence of Alpha Thalassaemia on Hematological and Clinical Presentations in Patients of Sickle Cell-β-Thalassaemia with IVS I-5 (G→C) Mutation (HBB: C.20A > T/HBB: C.92 + 5G > C).
Dehury S et al.
Hemoglobin, 2025
Sickle cell β-thalassemia diagnosed at age 40: a case report.
Nikolaidis CG et al.
Annals of Hematology, 2025
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.
Malhotra A et al.
Hgg Advances, 2025
Parasite-resistant variants in African genomes: implications for global genetic medicine.
Esoh K et al.
Trends in Parasitology, 2025
Characterisation of β-thalassemia mutations in a tertiary care referral hospital in southern India- A descriptive study.
Kuppusamy D et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2025
Diverse Genomes, Shared Health: Insights from a Health System Biobank.
Haas R et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Approach to kidney transplant candidates with hereditary transthyretin (TTR) amyloidosis and TTR variants: Case reports and mini-review.
Caliskan Y et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2025
A Variable Clinical Presentation of Hemoglobin City of Hope.
Brik Simon D et al.
Clinical Genetics, 2025
Comprehensive analysis of sickle β+-thalassemia genotypes and their associated HbA levels in France.
Baltus C et al.
Blood Cells, Molecules & Diseases, 2025
Ischemic Stroke as the Initial Presentation of Sickle Beta Thalassemia in an Adolescent: A Case Report.
Sinha S et al.
Cureus, 2025
Unraveling the Complex Genomic Interplay of Sickle Cell Disease Among the Saudi Population: A Case-Control GWAS Analysis.
Alghubayshi A et al.
International Journal of Molecular Sciences, 2025
FLT1 and other candidate fetal haemoglobin modifying loci in sickle cell disease in African ancestries.
Wonkam A et al.
Nature Communications, 2025
Prevalence and Molecular Characteristics of Hemoglobin Variants in Laibin City, Central Guangxi of Southern China.
Huang YY et al.
Hemoglobin, 2025
Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Portuguese Population.
Rodrigues D et al.
International Journal of Neonatal Screening, 2025
Non-Invasive Determination of the Paternal Inheritance in Pregnancies at Risk for β-Thalassaemia by Analyzing Cell-Free Fetal DNA Using Targeted Next-Generation Sequencing.
Byrou S et al.
International Journal of Molecular Sciences, 2025
Prenatal Exome Sequencing Identifies Dual Maternal-Fetal Diagnosis of HbF Mission Bay, a Novel HBG2 Variant Associated With Methemoglobinemia, Hypoxia and Hemolytic Anemia.
Shear MA et al.
Prenatal Diagnosis, 2025
Screening and Diagnosis of Rare Thalassemia Variants: Is Third-Generation Sequencing Enough?
Tang H et al.
Archives of Pathology & Laboratory Medicine, 2025
Estimation of carrier frequencies of autosomal and X-linked recessive genetic conditions based on gnomAD v4.0 data in different ancestries.
Hotakainen R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025