Myers KA, McGlade A, Neubauer BA, et al. KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood. PLoS One. 2018;13(1):e0191546. doi:10.1371/journal.pone.0191546
Strang-Karlsson S, Johnson K, Topf A, et al. A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair. Neuromuscul Disord. 2018;28(7):614-618. doi:10.1016/j.nmd.2018.04.012
Ting JT, Feng G. Unfolding neurodevelopmental disorders: found in translation. Nat Med. 2011;17(11):1352-3. doi:10.1038/nm.2553
Baker K, Gordon SL, Melland H, et al. SYT1-associated neurodevelopmental disorder: a case series. Brain. 2018;141(9):2576-2591. doi:10.1093/brain/awy209
Hovestadt V, Smith KS, Bihannic L, et al. Resolving medulloblastoma cellular architecture by single-cell genomics. Nature. 2019;572(7767):74-79. doi:10.1038/s41586-019-1434-6
Bobbili DR, Lal D, May P, et al. Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. Eur J Hum Genet. 2018;26(2):258-264. doi:10.1038/s41431-017-0034-x
Haworth S, Shungin D, van der Tas JT, et al. Consortium-based genome-wide meta-analysis for childhood dental caries traits. Hum Mol Genet. 2018;27(17):3113-3127. doi:10.1093/hmg/ddy237
Robertson HR, Feng G. Annual Research Review: Transgenic mouse models of childhood-onset psychiatric disorders. J Child Psychol Psychiatry. 2011;52(4):442-75. doi:10.1111/j.1469-7610.2011.02380.x
Shaaban S, MacKinnon S, Andrews C, et al. Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect. Invest Ophthalmol Vis Sci. 2018;59(10):4054-4064. doi:10.1167/iovs.18-24082
Johnson K, Topf A, Bertoli M, et al. Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness. Orphanet J Rare Dis. 2017;12(1):173. doi:10.1186/s13023-017-0722-1