Associated Papers
Whole-Exome Sequencing of Total Joint Arthroplasty Patients Who Have Known Pulmonary Embolism: A Pilot Study.
Mayfield CK et al.
The Journal of Arthroplasty, 2026
Severe Pain Phenotype in Hemoglobin C (HbC)/Beta-Zero (β⁰) Thalassemia Without Hemoglobin S (HbS): A Clinical and Diagnostic Challenge.
Martinez MJ et al.
Cureus, 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
Accurate diagnosis of hemoglobinopathies with machine learning based on high-throughput proteomics.
Wei S et al.
Hemasphere, 2025
Improved genomic characterization of a clinically heterogeneous pediatric cohort with WGS vs. WES.
Brashear AM et al.
Scientific Reports, 2025
Human genetic variations conferring resistance to malaria.
Zhang X et al.
Journal of Translational Medicine, 2025
Hemoglobin C Disease With Splenomegaly and With Factor II Mutation Gene Thrombophilia: A Case Report.
Vázquez-Folch SJ et al.
Cureus, 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
Revealing silent alpha-thalassemia: characterization of novel HBA1 deletion and missense mutation in Tunisian families.
Amri Y et al.
Annals of Hematology, 2025
Knowledge about globin genetics for precision diagnosis of hemoglobinopathies: A case Study.
Marques BBV et al.
Clinical Biochemistry, 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
Carrier frequency and molecular basis of hemoglobinopathies among blood donors in eastern Morocco: Implications for blood donation and genetic diagnosis.
Belmokhtar I et al.
Clinical Biochemistry, 2025
Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs.
Selvatici R et al.
Genes, 2024
Nationwide, Couple-Based Genetic Carrier Screening.
Kirk EP et al.
The New England Journal of Medicine, 2024
A Modular Genetic Approach to Newborn Screening from Spinal Muscular Atrophy to Sickle Cell Disease-Results from Six Years of Genetic Newborn Screening.
Bzdok J et al.
Genes, 2024
Wide spectrum of novel and rare hemoglobin variants in the multi-ethnic Indian population: A review.
Thaker P et al.
International Journal of Laboratory Hematology, 2024
Molecular epidemiology and hematological profiles of hemoglobin variants in southern Thailand.
Tepakhan W et al.
Scientific Reports, 2024
Detection of 13 Novel Variants and Investigation of Mutation Distribution by Next Generation Sequencing in Hemoglobinopathies: A Single Center Experience.
Ozalp O et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2024
The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.
Kong XF et al.
Scientific Reports, 2023
Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set.
Stein D et al.
Genome Medicine, 2023
High Throughput Newborn Screening for Sickle Cell Disease - Application of Two-Tiered Testing with a qPCR-Based Primary screen.
Janda J et al.
Klinische Padiatrie, 2023
Decoding Genetics, Ancestry, and Geospatial Context for Precision Health.
Koyama S et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Clinically actionable secondary findings in 130 triads from sub-Saharan African families with non-syndromic orofacial clefts.
Oladayo A et al.
Molecular Genetics & Genomic Medicine, 2023
Genetic screening in a Brazilian cohort with inborn errors of immunity.
Ferreira CS et al.
Bmc Genomic Data, 2023
Prevalence Rate of Thalassemia Carriers among Individuals with Microcytosis or Hypochromia in Portugal.
Santos D et al.
Acta Medica Portuguesa, 2023
Compound heterozygosity for Hb C/Hb S (HBB: c.19G>A/HBB: c.20A>T) diseases observed in a Syrian family: a case report.
Moassas F et al.
Annals of Medicine and Surgery (2012), 2023
Third-Generation Sequencing as a New Comprehensive Technology for Identifying Rare α- and β-Globin Gene Variants in Thalassemia Alleles in the Chinese Population.
Zhuang J et al.
Archives of Pathology & Laboratory Medicine, 2023
A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry.
Tesorero R et al.
Plos One, 2023
Frequency of unnecessary prenatal diagnosis of hemoglobinopathies: A large retrospective analysis and implication to improvement of the control program.
Singha K et al.
Plos One, 2023
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
Epidemiological and molecular study of hemoglobinopathies in Mauritanian patients.
Mahmoud T et al.
Molecular Genetics & Genomic Medicine, 2022
Rare cause of transfusion-dependent hemolytic anemia: A case report of HbE/Hb Nottingham and literature review.
Aziz A et al.
Pediatric Blood & Cancer, 2022
Consideration of Splenectomy in Unstable Hemoglobinopathy: A Case Report of Hb Hammersmith (HBB: c.128T>C).
Pesce MM et al.
Hemoglobin, 2022
Low frequency of treatable pediatric disease alleles in gnomAD: An opportunity for future genomic screening of newborns.
Gold NB et al.
Hgg Advances, 2022
Thalassemia in Asia 2021 Thalassemia in Brunei Darussalam.
Chong SC et al.
Hemoglobin, 2022
The Alberta Newborn Screening Approach for Sickle Cell Disease: The Advantages of Molecular Testing.
Zhou JR et al.
International Journal of Neonatal Screening, 2021
Common host variation drives malaria parasite fitness in healthy human red cells.
Ebel ER et al.
Elife, 2021
High Systolic Blood Pressure, Anterior Segment Changes and Visual Impairment Independently Predict Sickle Cell Retinopathy.
Idris IM et al.
Hemoglobin, 2021
A Case of Fat Embolism Syndrome with Cerebral Involvement in Sickle Cell Anemia.
Melvin RG et al.
Hemoglobin, 2021
IFN-λ4 is associated with increased risk and earlier occurrence of several common infections in African children.
Prokunina-Olsson L et al.
Genes and Immunity, 2021