Cynthia Casson Morton

This paper resolves ring chromosomes, Robertsonian translocations, and complex structural variants using long-read sequencing and telomere-to-telomere assembly, revealing breakpoint structures and methylation changes.

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.

This study identifies 31 plasma proteins and expands genetic loci associated with PCOS, highlighting metabolic and hormonal influences and polygenic risk effects on cardio-metabolic outcomes.

AnFiSA is an open-source platform for analyzing sequencing data in rare genetic disease, addressing reproducibility, adaptability, and explainability in genomic analysis.

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.

This study identifies SYCP2 translocation and frameshift variants as causes of male infertility through genetic analysis and functional modeling in yeast.

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.

This study shows that adding genetic screening to newborn hearing tests in China improves detection and reduces loss-to-follow-up, with significant benefits for identifying preventable hearing loss.