Targeted long-read sequencing identifies missing disease-causing variationDanny E. Miller, Evan E. Eichler, Arvis Sulovari et al.|The American Journal of Human Genetics|2021Cited by 239
A dyadic approach to the delineation of diagnostic entities in clinical genomicsLeslie G. Biesecker, Yuri A. Zárate, Katta M. Girisha et al.|The American Journal of Human Genetics|2021Cited by 116
Clinical features and management issues in Mowat–Wilson syndromeMargaret P Adam, Louanne Hudgins, Susan Schelley et al.|American Journal of Medical Genetics Part A|2006Cited by 112
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathiesBo Yuan, Pengfei Liu, Juanita Neira et al.|Genetics in Medicine|2018Cited by 88
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic DecompensationDongxue Mao, Hugo J. Bellen, Chloe M. Reuter et al.|The American Journal of Human Genetics|2020Cited by 69