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Rhoades et al. J Transl Genet Genom 2019;3:1. I  https://doi.org/10.20517/jtgg.2018.26                                           Page 19 of 20

                   developmental disorders. Nat Neurosci 2016;19:571-7.
               82.  Genovese G, Fromer M, Stahl EA, Ruderfer DM, Chambert K, et al. Increased burden of ultra-rare protein-altering variants among 4,877
                   individuals with schizophrenia. Nat Neurosci 2016;19:1433-41.
               83.  Giacopuzzi E, Gennarelli M, Minelli A, Gardella R, Valsecchi P, et al. Exome sequencing in schizophrenic patients with high levels of
                   homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways. PLoS One 2017;12:e0182778.
               84.  Ruderfer DM, Charney AW, Readhead B, Kidd BA, Kähler AK, et al. Polygenic overlap between schizophrenia risk and antipsychotic
                   response: a genomic medicine approach. Lancet Psychiatry 2016;3:350-7.
               85.  Ganna A, Satterstrom FK, Zekavat SM, Das I, Kurki MI, et al. Quantifying the impact of rare and ultra-rare coding variation across the
                   phenotypic spectrum. Am J Hum Genet 2018;102:1204-11.
               86.  Curtis D. Pathway analysis of whole exome sequence data provides further support for the involvement of histone modification in the
                   aetiology of schizophrenia. Psychiatr Genet 2016;26:223-7.
               87.  Fromer M, Pocklington AJ, Kavanagh DH, Williams HJ, Dwyer S, et al. De novo mutations in schizophrenia implicate synaptic networks.
                   Nature 2014;506:179-84.
               88.  Singh T, Walters JTR, Johnstone M, Curtis D, Suvisaari J, et al. The contribution of rare variants to risk of schizophrenia in individuals with
                   and without intellectual disability. Nat Genet 2017;9:1167-73.
               89.  Trakadis YJ, Sardaar S, Chen A, Fulginiti V, Krishnan A. Machine learning in schizophrenia genomics, a case-control study using 5,090
                   exomes. Am J Med Genet Part B Neuropsychiatr Genet 2018; doi: 10.1002/ajmg.b.32638.
               90.  Bahlo M, Tankard R, Lukic V, Oliver KL, Smith KR. Using familial information for variant filtering in high-throughput sequencing studies.
                   Hum Genet 2014;133:1331-41.
               91.  Xu B, Roos JL, Dexheimer P, Boone B, Plummer B, et al. Exome sequencing supports a de novo mutational paradigm for schizophrenia.
                   Nat Genet 2011;43:864-8.
               92.  Girard SL, Gauthier J, Noreau A, Xiong L, Zhou S, et al. Increased exonic de novo mutation rate in individuals with schizophrenia. Nat
                   Genet 2011;43:860-3.
               93.  Kranz TM, Harroch S, Manor O, Lichtenberg P, Friedlander Y, et al. De novo mutations from sporadic schizophrenia cases highlight
                   important signaling genes in an independent sample. Schizophr Res 2015;166:119-24.
               94.  John J, Sharma A, Kukshal P, Bhatia T, Nimgaonkar VL, et al. Rare variants in tissue inhibitor of metalloproteinase 2 as a risk factor for
                   schizophrenia: evidence from familial and cohort analysis. Schizophr Bull 2019;45:256-63
               95.  John J, Kukshal P, Bhatia T, Chowdari KV, Nimgaonkar VL, et al. Possible role of rare variants in trace amine associated receptor 1 in
                   schizophrenia. Schizophr Res 2017;189:190-5.
               96.  Egawa J, Hoya S, Watanabe Y, Nunokawa A, Shibuya M, et al. Rare UNC13B variations and risk of schizophrenia: whole-exome
                   sequencing in a multiplex family and follow-up resequencing and a case-control study. Am J Med Genet B Neuropsychiatr Genet
                   2016;171:797-805.
               97.  Hoya S, Watanabe Y, Hishimoto A, Nunokawa A, Kaneko N, et al. Rare PDCD11 variations are not associated with risk of schizophrenia in
                   Japan. Psychiatry Clin Neurosci 2017;71:780-8.
               98.  Chaumette B, Ferrafiat V, Ambalavanan A, Goldenberg A, Dionne-Laporte A, et al. Missense variants in ATP1A3 and FXYD gene family
                   are associated with childhood-onset schizophrenia. Mol Psychiatry 2018; doi: 10.1038/s41380-018-0103-8.
               99.  O’Brien NL, Fiorentino A, Curtis D, Rayner C, Petrosellini C, et al. Rare variant analysis in multiply affected families, association studies
                   and functional analysis suggest a role for the ITGΒ4 gene in schizophrenia and bipolar disorder. Schizophrenia Research 2018;199:181-8.
               100.  Salvoro C, Bortoluzzi S, Coppe A, Valle G, Feltrin E, et al. Rare risk variants identification by identity-by-descent mapping and whole-
                   exome sequencing implicates neuronal development pathways in schizophrenia and bipolar disorder. Mol Neurobiol 2018:55:7366-76.
               101.  Timms AE, Dorschner MO, Wechsler J, Choi KY, Kirkwood R, et al. Support for the N-methyl-d-aspartate receptor hypofunction hypothesis
                   of schizophrenia from exome sequencing in multiplex families. JAMA Psychiatry 2013;70:582-90.
               102.  Homann OR, Misura K, Lamas E, Sandrock RW, Nelson P, et al. Whole-genome sequencing in multiplex families with psychoses reveals
                   mutations in the SHANK2 and SMARCA1 genes segregating with illness. Mol Psychiatry 2016;21:1690-5.
               103.  Zhou Z, Hu Z, Zhang L, Hu Z, Liu H, et al. Identification of RELN variation p.Thr3192Ser in a Chinese family with schizophrenia. Sci Rep
                   2016;6:24327.
               104.  Tang J, Fan Y, Li H, Xiang Q, Zhang DF, et al. Whole-genome sequencing of monozygotic twins discordant for schizophrenia indicates
                   multiple genetic risk factors for schizophrenia. J Genet Genomics 2017;20;44:295-306.
               105.  Chung JH, Cai J, Suskin BG, Zhang Z, Coleman K, et al. Whole-genome sequencing and integrative genomic analysis approach on two
                   22q11.2 deletion syndrome family trios for genotype to phenotype correlations. Hum Mutat 2015;36:797-807.
               106.  Gur RE, Bassett AS, McDonald-Mcginn DM, Bearden CE, Chow E, et al. A neurogenetic model for the study of schizophrenia spectrum
                   disorders: the International 22q11.2 Deletion Syndrome Brain Behavior Consortium. Mol Psychiatry 2017;22:1664-72.
               107.  Merico D, Zarrei M, Costain G, Ogura L, Alipanahi B, et al. Whole-genome sequencing suggests schizophrenia risk mechanisms in humans
                   with 22q11.2 deletion syndrome. G3 (Bethesda) 2015;5:2453-61.
               108.  Khan FF, Melton PE, McCarthy NS, Morar B, Blangero J, et al. Whole genome sequencing of 91 multiplex schizophrenia families reveals
                   increased burden of rare, exonic copy number variation in schizophrenia probands and genetic heterogeneity. Schizophr Res 2018; doi:
                   10.1016/j.schres.2018.02.034.
               109.  Sokolowski M, Wasserman J, Wasserman D. Rare CNVs in suicide attempt include schizophrenia-associated loci and neurodevelopmental
                   genes: a pilot genome-wide and family-based study. PLoS One 2016; doi: 10.1371/journal.pone.0168531.
               110.  Piluso G, Monteleone P, Galderisi S, Giugliano T, Bertolino A, et al. Assessment of de novo copy-number variations in Italian patients with
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