Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yieldCynthia S. Gubbels, Timothy W. Yu, Grace E. VanNoy et al.|Genetics in Medicine|2019Cited by 121
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behaviorHolly K. Harris, Christopher Gray, George E. Tiller et al.|Genetics in Medicine|2021Cited by 91
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomesKlaus Schmitz‐Abe, Pankaj B. Agrawal, Qifei Li et al.|European Journal of Human Genetics|2019Cited by 75
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar HypoplasiaOguz Kanca, Gerard T. Berry, Jonathan C. Andrews et al.|The American Journal of Human Genetics|2019Cited by 57
Disruption of RFX family transcription factors causes autism, attention deficit/hyperactivity disorder, intellectual disability, and dysregulated behaviorHolly K. Harris, Jill R. Murrell, Tojo Nakayama et al.|medRxiv|2020Cited by 9