Mutaz Amin

The Rare Genomes Project provides remote genomic sequencing to rare disease families, achieving a 23.3% diagnostic solve rate and highlighting the role of research in overcoming clinical diagnostic barriers.

The paper presents genetic and phenotypic data from 521 children with neurodevelopmental disorders in Kenya and South Africa, highlighting high genetic diagnosis rates linked to environmental risk factors.

The paper develops criteria for identifying, sharing, and reporting novel candidate genes in clinical genomic testing to improve diagnostic yield for Mendelian conditions.

This paper standardizes terminology for describing disease-gene relationships to improve variant classification and genetic test interpretation.

The paper describes the formation of the Gene Curation Coalition to standardize gene-disease validity terminology and create a unified database for curated gene-disease assertions.

The paper identifies molecular overlaps between malaria and Burkitt’s lymphoma and links artemisinin derivatives to shared pathways that could inform their anticancer potential.

The paper develops a bioinformatic panel to identify disease-causing variants missed by conventional variant calling in sites with minor reference alleles.