James L. Shepherdson

In vivo functional analysis of non-conserved human lncRNAs associated with cardiometabolic traits

Xiangbo Ruan, Ping Li, Yi Chen et al. · Nature Communications · 2020 · 121 citations · Full text

Synthetic and genomic regulatory elements reveal aspects of cis-regulatory grammar in mouse embryonic stem cells

Dana King, Clarice KY Hong, James L. Shepherdson et al. · eLife · 2020 · 89 citations · Full text

Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt

James L. Shepherdson, Katie Hutchison, Dilan Wellalage Don et al. · The American Journal of Human Genetics · 2024 · 15 citations · Full text

Developmental Anomaly, Developmental Biology, Developmental Cognitive Neuroscience +9

Pathogenic variants in <i>CRX</i> have distinct <i>cis</i> -regulatory effects on enhancers and silencers in photoreceptors

James L. Shepherdson, Ryan Z. Friedman, Yiqiao Zheng et al. · Genome Research · 2024 · 14 citations · Full text

Mutational scanning of <i>CRX</i> classifies clinical variants and reveals biochemical properties of the transcriptional effector domain

James L. Shepherdson, David M. Granas, Jie Li et al. · Genome Research · 2024 · 10 citations · Full text