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