Begun J, Lassen KG, Jijon HB, et al. Integrated Genomics of Crohn’s Disease Risk Variant Identifies a Role for CLEC12A in Antibacterial Autophagy. Cell Rep. 2015;11(12):1905-18. doi:10.1016/j.celrep.2015.05.045
Sidow A, Bulotsky MS, Kerrebrock AW, et al. Serrate2 is disrupted in the mouse limb-development mutant syndactylism. Nature. 1997;389(6652):722-5. doi:10.1038/39587
Yang YJ, Baltus AE, Mathew RS, et al. Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation. Cell. 2012;151(5):1097-112. doi:10.1016/j.cell.2012.10.043
Canver MC, Smith EC, Sher F, et al. BCL11A enhancer dissection by Cas9-mediated in situ saturating mutagenesis. Nature. 2015;527(7577):192-7. doi:10.1038/nature15521
Superti-Furga A, Hästbacka J, Wilcox WR, et al. Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. Nat Genet. 1996;12(1):100-2. doi:10.1038/ng0196-100
Lassen KG, Kuballa P, Conway KL, et al. Atg16L1 T300A variant decreases selective autophagy resulting in altered cytokine signaling and decreased antibacterial defense. Proc Natl Acad Sci U S A. 2014;111(21):7741-6. doi:10.1073/pnas.1407001111
Song J, Bergen SE, Di Florio A, et al. Genome-wide association study identifies SESTD1 as a novel risk gene for lithium-responsive bipolar disorder. Mol Psychiatry. 2016;21(9):1290-7. doi:10.1038/mp.2015.165
Hamilton BA, Smith DJ, Mueller KL, et al. The vibrator mutation causes neurodegeneration via reduced expression of PITP alpha: positional complementation cloning and extragenic suppression. Neuron. 1997;18(5):711-22.
Sergouniotis PI, Chakarova C, Murphy C, et al. Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy. Am J Hum Genet. 2014;94(5):760-9. doi:10.1016/j.ajhg.2014.04.003
Gaublomme JT, Yosef N, Lee Y, et al. Single-Cell Genomics Unveils Critical Regulators of Th17 Cell Pathogenicity. Cell. 2015;163(6):1400-12. doi:10.1016/j.cell.2015.11.009