Pathogenic variant in EPHB4 results in central conducting lymphatic anomalyDong Li, Håkon Håkonarson, Elizabeth Bhoj et al.|Human Molecular Genetics|2018Cited by 100
Genomic profiling informs diagnoses and treatment in vascular anomaliesDong Li, Håkon Håkonarson, Sarah E. Sheppard et al.|Nature Medicine|2023Cited by 63
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and miceSarah E. Sheppard, Jessica Maffeo, Laura Bryant et al.|Science Advances|2023Cited by 18