Sami Samir Amr

The paper surveys genetics professionals on their use of functional evidence in variant classification for hearing and vision loss, highlighting challenges in data quality, accessibility, and integration into clinical practice.

This paper introduces a rapid rPMMA workflow for molecular histopathology of calcified temporal bones, reducing processing time and costs by 90% while enabling advanced molecular assays.

The paper identifies chromosomal structural rearrangements disrupting long non-coding RNAs (lncRNAs) in individuals with rare germline disorders, highlighting potential pathogenic roles of lncRNA disruptions.

The paper curates 157 variants in hearing loss genes using disease-specific ACMG/AMP guidelines, resolving 69% of discordant variants and 24% of VUS variants into clear classifications.

COMPASS identifies and quantifies small RNAs from sequencing data, showing greater diversity and abundance compared to existing tools in a human serum dataset.

The paper resolves the classification of two GJB2 variants as pathogenic for autosomal recessive nonsyndromic hearing loss through expert consensus.

The paper curates 164 gene-disease pairs for hearing loss, classifying their clinical validity to improve genetic testing accuracy.

The paper specifies ACMG/AMP variant interpretation guidelines for genetic hearing loss, updating and validating rules through expert curation of 51 variants.

The paper curates clinically relevant transcripts for 109 hearing loss-associated genes to improve variant interpretation by classifying exons based on expression, variant frequency, and sequencing quality.