Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. Genome Med. 2018 ;10(1):74..
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. Genet Med. 2020 ;..
Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Hum Genet. 2017 ;136(8):1009-1011..