Weiner DJ, Wigdor EM, Ripke S, et al. Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders. Nat Genet. 2017;49(7):978-985. doi:10.1038/ng.3863.
Nyegaard M, Severinsen JE, Als TD, et al. Support of association between BRD1 and both schizophrenia and bipolar affective disorder. Am J Med Genet B Neuropsychiatr Genet. 2010;153B(2):582-591. doi:10.1002/ajmg.b.31023.
May P, Girard S, Harrer M, et al. Rare coding variants in genes encoding GABA receptors in genetic generalised epilepsies: an exome-based case-control study. Lancet Neurol. 2018;17(8):699-708. doi:10.1016/S1474-4422(18)30215-1.
Jun G, Manning A, Almeida M, et al. Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees. Proc Natl Acad Sci U S A. 2018;115(2):379-384. doi:10.1073/pnas.1705859115.
Song J, Kuja-Halkola R, Sjölander A, et al. Specificity in Etiology of Subtypes of Bipolar Disorder: Evidence From a Swedish Population-Based Family Study. Biol Psychiatry. 2018;84(11):810-816. doi:10.1016/j.biopsych.2017.11.014.
Chao MJ, Kim K-H, Shin JW, et al. Population-specific genetic modification of Huntington's disease in Venezuela. PLoS Genet. 2018;14(5):e1007274. doi:10.1371/journal.pgen.1007274.
Neale BM, Kou Y, Liu L, et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. 2012;485(7397):242-5. doi:10.1038/nature11011.
Cefalù AB, Pirruccello JP, Noto D, et al. A novel APOB mutation identified by exome sequencing cosegregates with steatosis, liver cancer, and hypocholesterolemia. Arterioscler Thromb Vasc Biol. 2013;33(8):2021-5. doi:10.1161/ATVBAHA.112.301101.
Madison JM, Zhou F, Nigam A, et al. Characterization of bipolar disorder patient-specific induced pluripotent stem cells from a family reveals neurodevelopmental and mRNA expression abnormalities. Mol Psychiatry. 2015;20(6):703-17. doi:10.1038/mp.2015.7.
Lee N, Daly MJ, DelMonte T, et al. A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16. Am J Hum Genet. 2001;68(2):397-409. doi:10.1086/318197.