Publications
Export 5 results:
Filters: Keyword is Cohort Studies and Author is Yang, Yaping [Clear All Filters]
Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation. Am J Med Genet A. 2020 ;182(6):1387-1399.
. Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med. 2019 ;21(3):663-675.
. 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(4):377-386.
. Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med. 2017 ;9(1):83.
. Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Med Genomics. 2016 ;9(1):42.
.