Publications

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Author Title [ Year(Asc)]
Filters: Author is Yuan, Bo and Keyword is Gene Deletion  [Clear All Filters]
2017
Küry, S. et al. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet 100, 352-363 (2017).
2016
Yuan, B. et al. Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy. Hum Genet 135, 1161-74 (2016).