Publications
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[ Author] Title Year Filters: Keyword is Phenotype and Author is Yuan, Bo [Clear All Filters]
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. Am J Hum Genet 97, 691-707 (2015).
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med 21, 663-675 (2019).
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest 125, 636-51 (2015).