Page 110 - Read Online
P. 110

Page 18 of 20                                            Rhoades et al. J Transl Genet Genom 2019;3:1. I  https://doi.org/10.20517/jtgg.2018.26

                   to small-sample case-control whole-exome sequencing studies. Am J Hum Genet 2012;91:224-37.
               51.  Hasegawa T, Kojima K, Kawai Y, Misawa K, Mimori T, et al. AP-SKAT: highly-efficient genome-wide rare variant association test. BMC
                   Genomics 2016;17:745.
               52.  Zhou JJ, Hu T, Qiao D, Cho MH, Zhou H. Boosting gene mapping power and efficiency with efficient exact variance component tests of
                   single nucleotide polymorphism sets. Genetics 2016;204:921-31.
               53.  Chiu CY, Jung J, Wang Y, Weeks DE, Wilson AF, et al. A comparison study of multivariate fixed models and gene association with multiple
                   traits (GAMuT) for next-generation sequencing. Genet Epidemiol 2017;41:18-34.
               54.  Chung RH, Tsai WY, Kang CY, Yao PJ, Tsai HJ, et al. FamPipe: an automatic analysis pipeline for analyzing sequencing data in families for
                   disease studies. PLoS Comput Biol 2016; doi: 10.1371/journal.pcbi.1004980.
               55.  Jiang D, McPeek MS. Robust rare variant association testing for quantitative traits in samples with related individuals. Genet Epidemiol
                   2014;38:10-20.
               56.  Chen H, Meigs JB, Dupuis J. Sequence kernel association test for quantitative traits in family samples. Genet Epidemiol 2013;37:196-204.
               57.  Hu H, Roach JC, Coon H, Guthery SL, Voelkerding KV, et al. A unified test of linkage analysis and rare-variant association for analysis of
                   pedigree sequence data. Nat Biotechnol 2014;32:663-9.
               58.  Wang X, Lee S, Zhu X, Redline S, Lin X. GEE-based SNP set association test for continuous and discrete traits in family-based association
                   studies. Genet Epidemiol 2013;37:778-86.
               59.  Chen MH, Yang Q. RVFam: an R package for rare variant association analysis with family data. Bioinformatics 2016;32:624-6.
               60.  Wang X, Zhao X, Zhou J. Testing rare variants for hypertension using family-based tests with different weighting schemes. BMC Proc
                   2016;10:233-7.
               61.  Choi S, Lee S, Cichon S, Nöthen MM, Lange C, et al. FARVAT: a family-based rare variant association test. Bioinformatics 2014;30:3197-
                   205.
               62.  Werling DM, Brand H, An JY, Stone MR, Zhu L, et al. An analytical framework for whole-genome sequence association studies and its
                   implications for autism spectrum disorder. Nat Genet 2018;50:727-36.
               63.  Natsoulis G, Bell JM, Xu H, Buenrostro JD, Ordonez H, et al. A flexible approach for highly multiplexed candidate gene targeted
                   resequencing. PLoS One 2011; doi: 10.1371/journal.pone.0021088.
               64.  Edwards TL, Song Z, Li C. Enriching targeted sequencing experiments for rare disease alleles. Bioinformatics 2011;27:2112-8.
               65.  Blackwood DH, Fordyce A, Walker MT, St Clair DM, Porteous DJ, et al. Schizophrenia and affective disorders--cosegregation with a
                   translocation at chromosome 1q42 that directly disrupts brain-expressed genes: clinical and P300 findings in a family. Am J Hum Genet
                   2001;69:428-33.
               66.  Carless MA, Glahn DC, Johnson MP, Curran JE, Bozaoglu K, et al. Impact of DISC1 variation on neuroanatomical and neurocognitive
                   phenotypes. Mol Psychiatry 2011;16:1096-104.
               67.  Bradshaw NJ, Porteous DJ. DISC1-binding proteins in neural development, signalling and schizophrenia. Neuropharmacology
                   2012;62:1230-41.
               68.  Johnstone M, Thomson PA, Hall J, McIntosh AM, Lawrie SM, et al. DISC1 in schizophrenia: genetic mouse models and human genomic
                   imaging. Schizophr Bull 2011;37:14-20.
               69.  Thomson PA, Parla JS, McRae AF, Kramer M, Ramakrishnan K, et al. 708 common and 2010 rare DISC1 locus variants identified in 1542
                   subjects: analysis for association with psychiatric disorder and cognitive traits. Mol Psychiatry 2014;19:668-75.
               70.  Moens LN, De Rijk P, Reumers J, Van den Bossche MJ, Glassee W, et al. Sequencing of DISC1 pathway genes reveals increased burden of
                   rare missense variants in schizophrenia patients from a northern Swedish population. PLoS One 2011;6:e23450.
               71.  Kenny EM, Cormican P, Furlong S, Heron E, Kenny G, et al. Excess of rare novel loss-of-function variants in synaptic genes in
                   schizophrenia and autism spectrum disorders. Mol Psychiatry 2014;19:872-9.
               72.  Teng S, Thomson PA, McCarthy S, Kramer M, Muller S, et al. Rare disruptive variants in the DISC1 interactome and regulome: association
                   with cognitive ability and schizophrenia. Mol Psychiatry 2018;23:1270-7.
               73.  Xie P, Kranzler HR, Krystal JH, Farrer LA, Zhao H, et al. Deep resequencing of 17 glutamate system genes identifies rare variants in DISC1
                   and GRIN2B affecting risk of opioid dependence. Addict Biol 2014;19:955-64.
               74.  Kimura H, Tsuboi D, Wang C, Kushima I, Koide T, et al. Identification of rare, single-nucleotide mutations in NDE1 and their contributions
                   to schizophrenia susceptibility. Schizophr Bull 2015;41:744-53.
               75.  Kimura H, Fujita Y, Kawabata T, Ishizuka K, Wang C, et al. A novel rare variant R292H in RTN4R affects growth cone formation and
                   possibly contributes to schizophrenia susceptibility. Transl Psychiatry 2017; doi: 10.1038/tp.2017.170.
               76.   Dow DJ, Huxley-Jones J, Hall JM, Francks C, Maycox PR, et al. ADAMTSL3 as a candidate gene for schizophrenia: gene sequencing and
                   ultra-high density association analysis by imputation. Schizophr Res 2011;127:28-34.
               77.  Forstner AJ, Basmanav FB, Mattheisen M, Böhmer AC, Hollegaard MV, et al. Investigation of the involvement of MIR185 and its target
                   genes in the development of schizophrenia. J Psychiatry Neurosci 2014;39:386-96.
               78.  Piton A, Gauthier J, Hamdan FF, Lafrenière RG, Yang Y, et al. Systematic resequencing of X-chromosome synaptic genes in autism
                   spectrum disorder and schizophrenia. Mol Psychiatry 2011;16:867-80.
               79.  Awadalla P, Gauthier J, Myers RA, Casals F, Hamdan FF, et al. Direct measure of the de novo mutation rate in autism and schizophrenia
                   cohorts. Am J Hum Genet 2010;87:316-24.
               80.  Zuk O, Schaffner SF, Samocha K, Do R, Hechter E, et al. Searching for missing heritability: designing rare variant association studies. Proc
                   Natl Acad Sci U S A 2014;111:E455-64.
               81.  Singh T, Kurki MI, Curtis D, Purcell SM, Crooks L, et al. Rare loss-of-function variants in SETD1A are associated with schizophrenia and
   105   106   107   108   109   110   111   112   113   114   115