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REFERENCES
1. Patel KR, Cherian J, Gohil K, Atkinson D. Schizophrenia: overview and treatment options. Pharm Ther 2014;39:638-45. PMC
2. McCutcheon RA, Reis Marques T, Howes OD. Schizophrenia-an overview. JAMA Psychiatry 2020;77:201-10. DOI PubMed
3. Kanwal A, Pardo JV, Naz S. RGS3 and IL1RAPL1 missense variants implicate defective neurotransmission in early-onset inherited
schizophrenias. J Psychiatry Neurosci 2022;47:E379-90. DOI PubMed PMC
4. Trubetskoy V, Pardiñas AF, Qi T, et al. Mapping genomic loci implicates genes and synaptic biology in schizophrenia. Nature
2022;604:502-8. DOI
5. Henriksen MG, Nordgaard J, Jansson LB. Genetics of Schizophrenia: overview of methods, findings and limitations. Front Hum
Neurosci 2017;11:322. DOI PubMed PMC
6. Marshall CR, Howrigan DP, Merico D, et al. Contribution of copy number variants to schizophrenia from a genome-wide study of
41,321 subjects. Nat Genet 2017;49:27-35. DOI
7. Palmer DS, Howrigan DP, Chapman SB, et al. Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with
schizophrenia. Nat Genet 2022;54:541-7. DOI
8. Singh T, Kurki MI, Curtis D, et al; Swedish Schizophrenia Study; INTERVAL Study; DDD Study; UK10 K Consortium. Rare loss-of-
function variants in SETD1A are associated with schizophrenia and developmental disorders. Nat Neurosci 2016;19:571-7. DOI
PubMed PMC
9. Singh T, Poterba T, Curtis D, et al. Rare coding variants in ten genes confer substantial risk for schizophrenia. Nature 2022;604:509-
16. DOI PubMed PMC
10. Liu D, Meyer D, Fennessy B, et al; Psychiatric Genomics Consortium Phase 3 Targeted Sequencing of Schizophrenia Study Team.
Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations. Nat Genet
2023;55:369-76. DOI
11. Curtis D. Clinical features of UK Biobank subjects carrying protein-truncating variants in genes implicated in schizophrenia
pathogenesis. Psychiatr Genet 2022;32:156-61. DOI PubMed
12. Herzog LE, Wang L, Yu E, et al. Mouse mutants in schizophrenia risk genes GRIN2A and AKAP11 show EEG abnormalities in
common with schizophrenia patients. Transl Psychiatry 2023;13:92. DOI PubMed PMC
13. Mukai J, Cannavò E, Crabtree GW, et al. Recapitulation and reversal of schizophrenia-related phenotypes in setd1a-deficient mice.
Neuron 2019;104:471-87.e12. DOI PubMed PMC
14. Chong ZS, Khong ZJ, Tay SH, Ng SY. Metabolic contributions to neuronal deficits caused by genomic disruption of schizophrenia
risk gene SETD1A. Schizophrenia 2022;8:115. DOI PubMed PMC
15. Kusch T. Histone H3 lysine 4 methylation revisited. Transcription 2012;3:310-4. DOI PubMed PMC
16. Lee JH, Skalnik DG. Wdr82 is a C-terminal domain-binding protein that recruits the Setd1A Histone H3-Lys4 methyltransferase
complex to transcription start sites of transcribed human genes. Mol Cell Biol 2008;28:609-18. DOI PubMed PMC
17. Wang S, Bleeck A, Nadif Kasri N, Kleefstra T, van Rhijn JR, Schubert D. SETD1A mediated H3K4 methylation and its role in
neurodevelopmental and neuropsychiatric disorders. Front Mol Neurosci 2021;14:772000. DOI PubMed PMC
18. Barresi S, Dentici ML, Manzoni F, et al. Infantile-onset syndromic cerebellar ataxia and CACNA1G mutations. Pediatr Neurol
2020;104:40-5. DOI
19. Calcium channel, voltage-dependent, T type, alpha-1G subunit; CACNA1G. Available from: https://www.omim.org/entry/604065