Author

Hashim Halim‐Fikri

Universiti Sains MalaysiaORCID 0000-0002-0760-5067Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Assay:GWAS summary statistics· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Bin Alwi ZilfaliliD· 2 shared Celeste BentoiD· 2 shared Coralea StephanouiD· 2 shared Cornelis L. HarteveldiD· 2 shared Irene FylaktouiD· 2 shared Marina KleanthousiD· 2 shared Petros KountourisiD· 2 shared Andrea C. KakouriiD· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 43 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetic & Genomic Medicine

Bin Alwi ZilfalilORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

ClinGen Hemoglobinopathy VCEP ACMG/AMP specifications for HBB and HBA2 variant interpretation in thalassemia

Coralea Stephanou, Irene Fylaktou, Hashim Halim‐Fikri, Tamara T. Koopmann, Landry E. Nfonsam, Celeste Bento, Cornelis L. Harteveld, Marina Kleanthous, Joanne Traeger-Synodinos, Kyriaki Michailidou, Thessalia Papasavva, Bin Alwi Zilfalil, Justyne E. Ross, John S. Waye, Carsten Werner Lederer, , ClinGen Hemoglobinopathy Variant Curation Expert Panel

The paper develops and validates disease-specific ACMG/AMP variant interpretation specifications for HBB and HBA2 in thalassemia, providing a standardized framework for globin gene variant classification.

medRxiv · Nov 1, 2026 · PreprintGenetic & Genomic Medicine

Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2 and HBB associated with haemoglobinopathies

Stella Tamana, Maria Xenophontos, Anna Minaidou, Coralea Stephanou, Cornelis L. Harteveld, Celeste Bento, Joanne Traeger‐Synodinos, Irene Fylaktou, Norafiza Mohd Yasin, Faidatul Syazlin Abdul Hamid, Ezalia Esa, Hashim Halim‐Fikri, Bin Alwi Zilfalil, Andrea C. Kakouri, ClinGen Hemoglobinopathy VCEP, , Petros Kountouris

This study evaluates 31 in silico predictors for variants in HBA1, HBA2, and HBB, finding CADD, Eigen-PC, and REVEL as top performers for pathogenicity prediction.

eLife · Dec 1, 2022Peer-reviewedBioinformatics