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Mapping and characterization of structural variation in 17,795 human genomes. Nature 583, 83-89 (2020).
Expanded CAG Repeats in ATXN1, ATXN2, ATXN3, and HTT in the 1000 Genomes Project. Mov Disord 36, 514-518 (2021).
Redefining the Etiologic Landscape of Cerebellar Malformations. Am J Hum Genet 105, 606-615 (2019).
RaGOO: fast and accurate reference-guided scaffolding of draft genomes. Genome Biol 20, 224 (2019).
Major Impacts of Widespread Structural Variation on Gene Expression and Crop Improvement in Tomato. Cell 182, 145-161.e23 (2020).
Genetic association studies in cardiovascular diseases: Do we have enough power?. Trends Cardiovasc Med 27, 397-404 (2017).