Francia Bocanegra

Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits

C. Shaw, J. Lupski, Yaping Yang, 2022, Genome Medicine.

Sequencing individual genomes with recurrent deletions reveals allelic architecture and disease loci for autosomal recessive traits

Nurit Assia Batzir, C. Shaw, J. Lupski, 2021, medRxiv.