Research
Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia
- First Published April 15, 2025
Method
Marker-free characterization of full-length transcriptomes of single live circulating tumor cells
- First Published November 22, 2022
Perspective
Short arms of human acrocentric chromosomes and the completion of the human genome sequence
- First Published March 31, 2022
Research
Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection
- First Published December 13, 2017
Research
APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication
- First Published January 11, 2016
Research
Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders
- First Published April 27, 2015