Author

Landry E. Nfonsam

Hamilton Regional Laboratory Medicine ProgramORCID 0000-0002-5715-2545Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Bin Alwi ZilfaliliD· 1 shared Carsten Werner LedereriD· 1 shared Celeste BentoiD· 1 shared ClinGen Hemoglobinopathy Variant Curation Expert Panel· 1 shared Coralea StephanouiD· 1 shared Cornelis L. HarteveldiD· 1 shared Hashim Halim‐FikriiD· 1 shared Irene FylaktouiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Bin Alwi ZilfalilORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintNov 1, 2026

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

Coralea Stephanou, Irene Fylaktou, Hashim Halim‐Fikri…·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.

DOI 10.64898/2026.10.30.26366794

humanwhole-exome sequencing

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