Publications
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Author Title [ Year] Filters: Keyword is Sensitivity and Specificity [Clear All Filters]
Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability. Mol Genet Genomic Med 8, e1439 (2020).
Multiplexed Functional Assessment of Genetic Variants in CARD11. Am J Hum Genet 107, 1029-1043 (2020).
Ximmer: a system for improving accuracy and consistency of CNV calling from exome data. Gigascience 7, (2018).