Major Impacts of Widespread Structural Variation on Gene Expression and Crop Improvement in Tomato. Cell 182, 145-161.e23 (2020).
Mapping and characterization of structural variation in 17,795 human genomes. Nature 583, 83-89 (2020).
A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease. PLoS Genet 16, e1008629 (2020).
Mendelian Gene Discovery: Fast and Furious with No End in Sight. Am J Hum Genet 105, 448-455 (2019).
Monogenic causes of chronic kidney disease in adults. Kidney Int 95, 914-928 (2019).
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement. Acta Neuropathol (2019). doi:10.1007/s00401-019-02059-z
A multi-task convolutional deep neural network for variant calling in single molecule sequencing. Nat Commun 10, 998 (2019).
Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk. Nat Genet 50, 1327-1334 (2018).