Tynkkynen J, Chouraki V, Van der Lee SJ, et al. Association of branched-chain amino acids and other circulating metabolites with risk of incident dementia and Alzheimer’s disease: A prospective study in eight cohorts. Alzheimers Dement. 2018;14(6):723-733. doi:10.1016/j.jalz.2018.01.003
Guissart C, Latypova X, Rollier P, et al. Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. Am J Hum Genet. 2018;102(5):744-759. doi:10.1016/j.ajhg.2018.02.021
Giese AK, Rost NS. In search of a putative imaging biomarker for Fabry disease: Go with the flow?. Neurology. 2018;90(16):721-722. doi:10.1212/WNL.0000000000005320
Heinzen EL, O’Neill AC, Zhu X, et al. De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. PLoS Genet. 2018;14(5):e1007281. doi:10.1371/journal.pgen.1007281
Hibar DP, Stein JL, RenterÃa ME, et al. Common genetic variants influence human subcortical brain structures. Nature. 2015;520(7546):224-9. doi:10.1038/nature14101
Smoller JW, Gallagher PJ, Duncan LE, et al. The human ortholog of acid-sensing ion channel gene ASIC1a is associated with panic disorder and amygdala structure and function. Biol Psychiatry. 2014;76(11):902-10. doi:10.1016/j.biopsych.2013.12.018
Opherk C, Gonik M, Duering M, et al. Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL. Stroke. 2014;45(4):968-72. doi:10.1161/STROKEAHA.113.004461
Biffi A, Sabuncu MR, Desikan RS, et al. Genetic variation of oxidative phosphorylation genes in stroke and Alzheimer’s disease. Neurobiol Aging. 2014;35(8):1956.e1-8. doi:10.1016/j.neurobiolaging.2014.01.141
Zhang X, Ling J, Barcia G, et al. Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. Am J Hum Genet. 2014;94(4):547-58. doi:10.1016/j.ajhg.2014.03.003
Jamuar SS, Lam ATN, Kircher M, et al. Somatic mutations in cerebral cortical malformations. N Engl J Med. 2014;371(8):733-43. doi:10.1056/NEJMoa1314432