Andrew R. Grant

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

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.

Consensus interpretation of the Met34Thr and Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

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

ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene-Disease Pairs

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

Expert Specification of the ACMG/AMP Variant Interpretation Guidelines for Genetic Hearing Loss

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

Assessing the Gene-Disease Association of 19 Genes with the RASopathies using the ClinGen Gene Curation Framework

The paper curates and scores gene-disease associations for 19 genes related to RASopathies using the ClinGen framework, classifying their associations as definitive, strong, moderate, limited, disputed, or no evidence.

Curating clinically relevant transcripts for the interpretation of sequence 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.