Colleen M. Carlston

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.

This study defines the clinical spectrum and genotype-phenotype correlations of BCL11A-IDD by analyzing 75 patients with molecular and clinical data.

This paper identifies pqn-59 as a factor that antagonizes miRNA-mediated repression and promotes stress granule formation in C. elegans, contributing to regulatory bistability in developmental gene networks.

The paper analyzes RNA expression and splicing in a family with a rare Mendelian disorder, revealing disrupted coordination between mitochondrial components and RPL11 transcripts.