Poulsen JB, Lescai F, Grove J, et al. High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA. PLoS One. 2016;11(4):e0153253. doi:10.1371/journal.pone.0153253
Barrera LA, Vedenko A, Kurland JV, et al. Survey of variation in human transcription factors reveals prevalent DNA binding changes. Science. 2016;351(6280):1450-4. doi:10.1126/science.aad2257
Narasimhan VM, Hunt KA, Mason D, et al. Health and population effects of rare gene knockouts in adult humans with related parents. Science. 2016;352(6284):474-7. doi:10.1126/science.aac8624
Bandopadhayay P, Ramkissoon LA, Jain P, et al. MYB-QKI rearrangements in angiocentric glioma drive tumorigenicity through a tripartite mechanism. Nat Genet. 2016;48(3):273-82. doi:10.1038/ng.3500
Rand KA, Rohland N, Tandon A, et al. Whole-exome sequencing of over 4100 men of African ancestry and prostate cancer risk. Hum Mol Genet. 2016;25(2):371-81. doi:10.1093/hmg/ddv462
Zheng HF, Forgetta V, Hsu YH, et al. Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture. Nature. 2015;526(7571):112-7. doi:10.1038/nature14878
Landau DA, Tausch E, Taylor-Weiner AN, et al. Mutations driving CLL and their evolution in progression and relapse. Nature. 2015;526(7574):525-30. doi:10.1038/nature15395
Richards AL, Leonenko G, Walters JT, et al. Exome arrays capture polygenic rare variant contributions to schizophrenia. Hum Mol Genet. 2016;25(5):1001-7. doi:10.1093/hmg/ddv620
Yu B, Pulit SL, Hwang SJ, et al. Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk. Circ Cardiovasc Genet. 2016;9(1):64-70. doi:10.1161/CIRCGENETICS.115.001215
Ghaoui R, Palmio J, Brewer J, et al. Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. Neurology. 2016;86(4):391-8. doi:10.1212/WNL.0000000000002324