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Publications

Highly efficient Cas9-mediated transcriptional programming.

Chavez A, Scheiman J, Vora S, et al. Highly efficient Cas9-mediated transcriptional programming. Nat Methods. 2015;12(4):326-8. doi:10.1038/nmeth.3312

Simultaneous generation of many RNA-seq libraries in a single reaction.

Shishkin AA, Giannoukos G, Kucukural A, et al. Simultaneous generation of many RNA-seq libraries in a single reaction. Nat Methods. 2015;12(4):323-5. doi:10.1038/nmeth.3313

Oncotator: cancer variant annotation tool.

Ramos AH, Lichtenstein L, Gupta M, et al. Oncotator: cancer variant annotation tool. Hum Mutat. 2015;36(4):E2423-9. doi:10.1002/humu.22771

Large-scale imputation of epigenomic datasets for systematic annotation of diverse human tissues.

Ernst J, Kellis M. Large-scale imputation of epigenomic datasets for systematic annotation of diverse human tissues. Nat Biotechnol. 2015;33(4):364-76. doi:10.1038/nbt.3157

Glucokinase regulatory protein: complexity at the crossroads of triglyceride and glucose metabolism.

Raimondo A, Rees MG, Gloyn AL. Glucokinase regulatory protein: complexity at the crossroads of triglyceride and glucose metabolism. Curr Opin Lipidol. 2015;26(2):88-95. doi:10.1097/MOL.0000000000000155

Expanding the phenotype of GMPPB mutations.

Cabrera-Serrano M, Ghaoui R, Ravenscroft G, et al. Expanding the phenotype of GMPPB mutations. Brain. 2015;138(Pt 4):836-44. doi:10.1093/brain/awv013

16S community profiling identifies proton pump inhibitor related differences in gastric, lung, and oropharyngeal microflora.

Rosen R, Hu L, Amirault J, Khatwa U, Ward DV, Onderdonk A. 16S community profiling identifies proton pump inhibitor related differences in gastric, lung, and oropharyngeal microflora. J Pediatr. 2015;166(4):917-23. doi:10.1016/j.jpeds.2014.12.067

Exome sequencing in suspected monogenic dyslipidemias.

Stitziel NO, Peloso GM, Abifadel M, et al. Exome sequencing in suspected monogenic dyslipidemias. Circ Cardiovasc Genet. 2015;8(2):343-50. doi:10.1161/CIRCGENETICS.114.000776

Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.

D’Gama AM, Geng Y, Couto JA, et al. Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. Ann Neurol. 2015;77(4):720-5. doi:10.1002/ana.24357

A kernel machine method for detecting effects of interaction between multidimensional variable sets: an imaging genetics application.

Ge T, Nichols TE, Ghosh D, et al. A kernel machine method for detecting effects of interaction between multidimensional variable sets: an imaging genetics application. Neuroimage. 2015;109:505-14. doi:10.1016/j.neuroimage.2015.01.029