Associated Papers
Family trios/quartets analysis based on the Newborn Genomic Atlas for Thalassemia project in Guangxi.
Wei W et al.
Bmc Medicine, 2025
A Variable Clinical Presentation of Hemoglobin City of Hope.
Brik Simon D et al.
Clinical Genetics, 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
Rare and New Mutations of B-Globin in Azari Population of Iran, a Considerable Diversity.
Abbasali FH et al.
Balkan Journal of Medical Genetics : Bjmg, 2023
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.
Mitchell CW et al.
The Journal of Biological Chemistry, 2022
The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes.
Khayat M et al.
Clinical Genetics, 2021
Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.
Scheps KG et al.
Human Mutation, 2020
Coinheritance of Hb City of Hope (HBB: c.208G>A) and β-Thalassemia: Compromising the Molecular Diagnosis of the Codons 71/72 (+A) (HBB: c.216_217insA) Mutation by Reverse Dot-Blot Hybridization.
Zhou JY et al.
Hemoglobin, 2019
Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure.
Rohanizadegan M et al.
Cold Spring Harbor Molecular Case Studies, 2017
Hemoglobin Le Lamentin in the province of Albacete, Spain: Discovery of 32 cases.
Martínez-López R et al.
Clinical Biochemistry, 2017
Report on Ten Years' Experience of Premarital Hemoglobinopathy Screening at a Center in Antalya, Southern Turkey.
Canatan D et al.
Hemoglobin, 2016
Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children.
Silver AJ et al.
Genetic Testing and Molecular Biomarkers, 2016
The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study.
Kountouris P et al.
Scientific Reports, 2016
Different forms of Hb Le Lamentin. An unexpected finding in Hba1c quantification.
Martínez-López R et al.
Clinical Biochemistry, 2016
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Hemoglobin S/hemoglobin City of Hope compound heterozygote with a SubSaharan genetic background and severe bone marrow hypoplasia.
Paradisi I et al.
Investigacion Clinica, 2010