α-thalassaemia

• ACMG / AMP ‐Based Variant Classification of a Novel HBA2 Variant ( HBA2 : C.297del, Hb Taiping) in Compound Heterozygosity With Hb Adana ( HBA2 :C. 179G >A) Causing Non‐Deletional Hb H Disease

  2026 International Journal of Laboratory Hematology article Medicine Hemoglobinopathies and Related Disorders Open access

  0

  citations
• The Clinical and Laboratory Profiles of a Deletional α2-Globin Gene Polyadenylation Signal Sequence (AATAAA > AATA--) [HBA2:c.*93_*94delAA]: The Malaysian Experience

  2025 Diagnostics article Medicine Hemoglobinopathies and Related Disorders Open access

  0

  citations
• PAV-spotter: using signal cross-correlations to identify Presence/Absence Variation in target capture data

  2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access

  4

  citations
• Alpha Thalassemia Screening in Multiethnic Population in Northern Europe Using Hb Bart's Immunochromatographic Test

  2024 International Journal of Laboratory Hematology article Medicine Hemoglobinopathies and Related Disorders Open access

  1

  citations
• Machine Learning-Based Prediction of Hemoglobinopathies Using Complete Blood Count Data

  2024 Clinical Chemistry article Medicine Hemoglobinopathies and Related Disorders Open access

  32

  citations
• Moderate–severe beta‐thalassemia intermedia phenotype caused by sextuplicated alpha‐globin gene allele in two beta‐thalassemia carriers

  2024 American Journal of Hematology article Medicine Hemoglobinopathies and Related Disorders Open access

  3

  citations
• The Evolving Role of Next-Generation Sequencing in Screening and Diagnosis of Hemoglobinopathies

  2021 Frontiers in Physiology article Medicine Hemoglobinopathies and Related Disorders Open access

  50

  citations
• Breakpoint characterization of a rare alpha0‐thalassemia deletion using targeted locus amplification on genomic DNA

  2021 International Journal of Laboratory Hematology article Medicine Hemoglobinopathies and Related Disorders Open access

  4

  citations
• A remarkable case of HbH disease illustrates the relative contributions of the α-globin enhancers to gene expression

  2020 Blood article Medicine Hemoglobinopathies and Related Disorders Open access

  11

  citations
• ATR-16 syndrome: mechanisms linking monosomy to phenotype

  2020 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access

  10

  citations

10 results