Publications
Export 4 results:
Author Title [ Year
] Filters: Author is Yuan, Bo and Keyword is Retrospective Studies [Clear All Filters]
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. Genet Med 22, 1633-1641 (2020).
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med 21, 663-675 (2019).
Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med 9, 83 (2017).
New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. JAMA Ophthalmol 133, 133-9 (2015).
