Targeted long-read sequencing identifies missing disease-causing variationDanny E. Miller, Evan E. Eichler, Kendra Hoekzema et al.|The American Journal of Human Genetics|2021Cited by 239
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and miceSarah E. Sheppard, Jessica Maffeo, Laura Bryant et al.|Science Advances|2023Cited by 18