Publications
Filters: Keyword is Animals [Clear All Filters]
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. Am J Hum Genet. 2017 ;100(4):592-604.
. REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking. Hum Mol Genet. 2017 ;26(14):2667-2677.
. The SWI/SNF Protein PBRM1 Restrains VHL-Loss-Driven Clear Cell Renal Cell Carcinoma. Cell Rep. 2017 ;18(12):2893-2906.
. The value of new genome references. Exp Cell Res. 2017 ;358(2):433-438.
. Acquired uniparental disomy of chromosome 9p in hematologic malignancies. Exp Hematol. 2016 ;44(8):644-52.
. ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa. Hum Mutat. 2016 ;37(3):246-9.
. Are feeding preferences and insecticide resistance associated with the size of detoxifying enzyme families in insect herbivores?. Curr Opin Insect Sci. 2016 ;13:70-76.
. Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. JAMA Neurol. 2016 ;73(7):836-845.
. Avirulence gene mapping in the Hessian fly (Mayetiola destructor) reveals a protein phosphatase 2C effector gene family. J Insect Physiol. 2016 ;84:22-31.
. Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. Am J Hum Genet. 2016 ;99(4):886-893.
. Chromosomal-Level Assembly of the Asian Seabass Genome Using Long Sequence Reads and Multi-layered Scaffolding. PLoS Genet. 2016 ;12(4):e1005954.
. Comparative genomic study of arachnid immune systems indicates loss of beta-1,3-glucanase-related proteins and the immune deficiency pathway. J Evol Biol. 2016 ;29(2):277-91.
. Comparative Genomics of a Parthenogenesis-Inducing Wolbachia Symbiont. G3 (Bethesda). 2016 ;6(7):2113-23.
. Comparative Genomics of Two Closely Related Wolbachia with Different Reproductive Effects on Hosts. Genome Biol Evol. 2016 ;8(5):1526-42.
. A comprehensive transcriptional map of primate brain development. Nature. 2016 ;535(7612):367-75.
. Conditional knockout of retinal determination genes in differentiating cells in Drosophila. FEBS J. 2016 ;283(15):2754-66.
. Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. Am J Hum Genet. 2016 ;99(2):318-36.
. Cross-species identification of genomic drivers of squamous cell carcinoma development across preneoplastic intermediates. Nat Commun. 2016 ;7:12601.
. The Ensembl gene annotation system. Database (Oxford). 2016 ;2016.
. Evolutionary and developmental implications of asymmetric brain folding in a large primate pedigree. Evolution. 2016 ;70(3):707-15.
. Functional annotation of rare gene aberration drivers of pancreatic cancer. Nat Commun. 2016 ;7:10500.
. Genome of the Asian longhorned beetle (Anoplophora glabripennis), a globally significant invasive species, reveals key functional and evolutionary innovations at the beetle-plant interface. Genome Biol. 2016 ;17(1):227.
. Genome Sequencing of the Phytoseiid Predatory Mite Metaseiulus occidentalis Reveals Completely Atomized Hox Genes and Superdynamic Intron Evolution. Genome Biol Evol. 2016 ;8(6):1762-75.
. Genome-culture coevolution promotes rapid divergence of killer whale ecotypes. Nat Commun. 2016 ;7:11693.
. Genomic analyses identify molecular subtypes of pancreatic cancer. Nature. 2016 ;531(7592):47-52.
.