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Predicting human genes susceptible to genomic instability associated with /-mediated rearrangements. Genome Res 28, 1228-1242 (2018).
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet 100, 352-363 (2017).
Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med 9, 83 (2017).
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Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics. Genome Med 8, 105 (2016).
Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med 18, 678-85 (2016).
Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses. Hum Mutat 37, 231-234 (2016).
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