Publications

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Author Title [ Year(Desc)]
Filters: Author is Sabo, Aniko and Keyword is Humans  [Clear All Filters]
2015
English, A. C. et al. Assessing structural variation in a personal genome-towards a human reference diploid genome. BMC Genomics 16, 286 (2015).
2016
Lindstrand, A. et al. Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. Am J Hum Genet 99, 318-36 (2016).
2020
Sabo, A. et al. Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability. Mol Genet Genomic Med 8, e1439 (2020).