Association AP (2013) Diagnostic and statistical manual of mental disorders (DSM-5®). American Psychiatric Pub, Arlington. https://doi.org/10.1176/appi.books.9780890425596
Bachmann-Gagescu R et al (2010) Recurrent 200-kb deletions of 16p11. 2 that include the SH2B1 gene are associated with developmental delay and obesity. Genet Med 12:641–647. https://doi.org/10.1097/GIM.0b013e3181ef4286
Baio J, Wiggins L, Christensen DL et al (2018) Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years — Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, MMWR Surveill Summ 2018;67(No. SS-6):1–23. DOI: http://dx.doi.org/10.15585/mmwr.ss6706a1
Bertoglio K, Hendren RL (2009) New developments in autism. Psychiatr Clin North Am 32:1–14. https://doi.org/10.1016/j.psc.2008.10.004
Buxbaum J et al (2002) Association between a GABRB3 polymorphism and autism. Mol Psychiatry 7:311–316. https://doi.org/10.1038/sj.mp.4001011
Chen C-H et al (2017) High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan. Sci Rep 7:1–10. https://doi.org/10.1038/s41598-017-12081-4
Coe BP et al (2014) Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nat Genet 46:1063–1071. https://doi.org/10.1038/ng.3092
De Rubeis S et al (2018) Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations. Mol Autism 9:31. https://doi.org/10.1186/s13229-018-0205-9
Depienne C et al (2009) Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders. Biol Psychiatry 66:349–359. https://doi.org/10.1016/j.biopsych.2009.01.025
DiStefano C et al (2016) Identification of a distinct developmental and behavioral profile in children with Dup15q syndrome. J Neurodev Disord 8:19–19. https://doi.org/10.1186/s11689-016-9152-y
Doco-Fenzy M et al (2008) Deletion 2q36. 2q36. 3 with multiple renal cysts and severe mental retardation. Eur J Med Genet 51:598–607. https://doi.org/10.1016/j.ejmg.2008.08.002
Eriksson MA et al (2015) Rare copy number variants are common in young children with autism spectrum disorder. Acta Paediatr 104:610–618. https://doi.org/10.1111/apa.12969
Evers C et al (2015) Duplication Xp11. 22-p14 in females: Does X‐inactivation help in assessing their significance? Am J Med Genet A 167:553–562. https://doi.org/10.1002/ajmg.a.36897
Finucane, Brenda M et al (2016) “15q Duplication Syndrome and Related Disorders.” GeneReviews®, edited by Margaret P Adam et. al., University of Washington, Seattle
Goldenberg P (2018) An update on common chromosome microdeletion and microduplication syndromes. Pediatr Ann 47:e198–e203. https://doi.org/10.3928/19382359-20180419-01
Görker I et al (2018) Investigation of copy number variation by arrayCGH in Turkish children and adolescents diagnosed with autism spectrum disorders. Noro Psikiyatr Ars 55:215–219. https://doi.org/10.5152/npa.2017.21611
Griswold AJ et al (2015) Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants. Mol Autism 6:43. https://doi.org/10.1186/s13229-015-0034-z
Hakanen J, Ruiz-Reig N, Tissir F (2019) Linking Cell Polarity to Cortical Development and Malformations. Front Cell Neurosci 13:244–244. https://doi.org/10.3389/fncel.2019.00244
Herbert MR Engl (2011) SHANK3, the synapse, and autism N. J Med 365:173–175. https://doi.org/10.1056/NEJMcibr1104261
Hyman SL, Levy SE, Myers SM (2020) Identification, Evaluation, and Management of Children With Autism Spectrum Disorder Pediatrics 1:145 https://doi.org/10.1542/peds.2019-3447
Iossifov I et al (2014) The contribution of de novo coding mutations to autism. spectrum disorder Nature 515:216–221. https://10.1038/nature13908
Jang W et al (2019) Chromosomal microarray analysis as a first-tier clinical diagnostic test in patients with developmental delay/intellectual disability, autism spectrum disorders, and multiple congenital anomalies: a prospective multicenter study in Korea. Ann Lab Med 39:299. https://doi.org/10.3343/alm.2019.39.3.299
Jin C et al (2018) Integrative brain transcriptome analysis reveals region-specific and broad molecular changes in Shank3-overexpressing mice. Front Mol Neurosci 11:250. https://doi.org/10.3389/fnmol.2018.00250
Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST (2011) American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet Med 13:680–685. https://doi.org/10.1097/GIM.0b013e3182217a3a
Kim SK, Lee JY, Park HJ, Kim JW, Chung J-H (2012) Association study between polymorphisms of the PARD3 gene and schizophrenia. Exp Ther Med 3:881–885. https://doi.org/10.3892/etm.2012.496
Kohlenberg TM, Trelles MP, Mclarney B, Betancur C, Thurm A, Kolevzon A (2020) Psychiatric illness and regression in individuals with Phelan-McDermid. syndrome J Neurodev Disord 12(1):7. https://doi.org/10.1186/s11689-020-9309-6
Kolevzon A et al (2014) Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring. J Neurodev Disord 6:39. https://doi.org/10.1186/1866-1955-6-39
Kosmicki JA et al (2017) Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples Nat. Genet 49:504. https://doi.org/10.1038/ng.3789
Lerer I, Sagi M, Meiner V, Cohen T, Zlotogora J, Abeliovich D (2005) Deletion of the ANKRD15 gene at 9p24. 3 causes parent-of-origin-dependent inheritance of familial cerebral palsy. Hum Mol Genet 14:3911–3920. https://doi.org/10.1093/hmg/ddi415
MacDonald JR, Ziman R, Yuen RK, Feuk L, Scherer SW (2014) The Database of Genomic Variants: a curated collection of structural variation in the human genome Nucleic. Acids Res 42:D986–D992. https://doi.org/10.1093/nar/gkt958
Miles JH (2011) Autism spectrum disorders—A genetics review. Genet Sci 13:278–294. https://10.1097/GIM.0b013e3181ff67ba
Miller DT, Chung W, Nasir R et al (2009) 16p11.2 Recurrent Microdeletion. In: Adam MP, Ardinger HH, Pagon RA et al, eds. GeneReviews®. Seattle (WA): University of Washington, Seattle
Naisbitt S et al (1999) Shank, a novel family of postsynaptic density proteins that binds to the NMDA receptor/PSD-95/GKAP complex and cortactin. Neuron 23:569–582. https://doi.org/10.1016/s0896-6273(00)80809-0
Napoli E et al (2018) Array-CGH analysis in a cohort of phenotypically well-characterized individuals with “essential” autism spectrum disorders. J Autism Dev Disord 48:442–449. https://doi.org/10.1007/s10803-017-3329-4
Niarchou M et al (2019) Psychiatric disorders in children with 16p11.2 deletion and duplication. Transl Psychiatry 9:8–8. https://doi.org/10.1038/s41398-018-0339-8
O'roak B et al (2014) Recurrent de novo mutations implicate novel genes underlying simplex autism risk. Nat Commun 5:1–6. https://doi.org/10.1038/ncomms6595
Picinelli C, Lintas C, Piras IS, Gabriele S, Sacco R, Brogna C, Persico AM (2016) Recurrent 15q11. 2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders. Am J Med Genet B Neuropsychiatr Genet 171:1088–1098. https://doi.org/10.1002/ajmg.b.32480
Pinto D et al (2014) Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am J Hum Genet 94:677–694. https://doi.org/10.1016/j.ajhg.2014.03.018
Sarasua SM et al (2014) Clinical and genomic evaluation of 201 patients with Phelan–McDermid syndrome Hum Genet. 2014 133:847–859 https://doi.org/10.1007/s00439-014-1423-7
Saravanapandian V et al (2020) Properties of beta oscillations in Dup15q syndrome. J Neurodev Disord 12:22–22. https://doi.org/10.1186/s11689-020-09326-1
Savasir I, Sezgin N, Erol N (1994) Handbook of Ankara developmental screening inventory Ankara, Turkish Psychologists Association Publication
Savaşır I, Şahin N (1995) Wechsler çocuklar için zeka ölçeği (WISC-R) el kitabı Türk Psikologlar Derneği Yayınları, Ankara
Schaefer GB, Mendelsohn NJ (2013) Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013. guideline revisions Genet Med 15:399–407. https://doi.org/10.1038/gim.2013.32
Shi S-H, Jan LY, Jan Y-N (2003) Hippocampal neuronal polarity specified by spatially localized mPar3/mPar6 and PI 3-kinase activity Cell. 112:63–75 https://doi.org/10.1016/s0092-8674(02)01249-7
Siu W-K et al (2016) Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong. Clin Transl Med 5:18. https://doi.org/10.1186/s40169-016-0098-1
Sorte HS, Gjevik E, Sponheim E, Eiklid KL, Rødningen OK (2013) Copy number variation findings among 50 children and adolescents with autism spectrum disorder Psychiatr Genet. 23:61–69 https://doi.org/10.1097/YPG.0b013e32835d718b
Stefano V, Viviana C, Deny M, Viola A, Sara L, Antonio N, Marco T (2019) Copy number variants in autism spectrum disorders. Prog Neuropsychopharmacol Biol Psychiatry 92:421–427. https://doi.org/10.1016/j.pnpbp.2019.02.012
Steinman KJ et al (2016) 16p11. 2 deletion and duplication: characterizing neurologic phenotypes in a large clinically ascertained cohort. Am J Med Genet A. 2016 170:2943–2955 https://doi.org/10.1002/ajmg.a.37820
Sterling N et al (2020) De novo variants in MPP5 cause global developmental delay and behavioral changes. Hum Mol Genet. 2020 29:3388–3401 https://doi.org/10.1093/hmg/ddaa224
Sucuoglu B, Oktem F, Akkok F, Gokler B (1996) A study of the scales for the assessment of the children with autism Psikiyatri, Psikoloji, Psikofarmakoloji (3P) 4:116–121
Sun J et al (2015) UBE3A regulates synaptic plasticity and learning and memory by controlling SK2 channel endocytosis Cell Rep. 12:449–461 https://doi.org/10.1016/j.celrep.2015.06.023
Szatmari P et al (2007) Mapping autism risk loci using genetic linkage and chromosomal rearrangements Nat. Genet 39:319–328. https://doi.org/10.1038/ng1985
Van Houdt JK et al (2012) Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser. syndrome Nat Genet 44:445–449. s441 https://doi.org/10.1038/ng.1105
Vanzo RJ, Martin MM, Sdano MR, South ST (2013) Familial KANK1 deletion that does not follow expected imprinting pattern. Eur J Med Genet 56:256–259. https://doi.org/10.1016/j.ejmg.2013.02.006
Vanzo RJ, Twede H, Ho KS, Prasad A, Martin MM, South ST, Wassman ER (2019) Clinical significance of copy number variants involving KANK1 in patients with neurodevelopmental disorders. Eur J Med Genet 62:15–20. https://doi.org/10.1016/j.ejmg.2018.04.012
Velinov M (2019) Genomic copy number variations in the autism clinic-work in progress. Front Cell Neurosci 13:57. https://doi.org/10.3389/fncel.2019.00057
Verhoeven WM, Egger JI, de Leeuw N (2020) A longitudinal perspective on the pharmacotherapy of 24 adult patients with Phelan McDermid syndrome. Eur J Med Genet 63:103751. https://doi.org/10.1016/j.ejmg.2019.103751
Wallis MJ, Boys A, Tassano E, Delatycki MB (2020) Small interstitial 9p24. 3 deletions principally involving KANK1 are likely benign copy number variants Eur J Med Genet. 2020 63:103618 https://doi.org/10.1016/j.ejmg.2019.01.008
Wang T et al (2016) De novo genic mutations among a Chinese autism spectrum disorder cohort. Nat Commun 7:1–10. https://doi.org/10.1038/ncomms13316
Wiśniowiecka-Kowalnik B, Nowakowska BA (2019) Genetics and epigenetics of autism spectrum disorder—current evidence in the field. J Appl Genet 60:37–47. https://doi.org/10.1007/s13353-018-00480-w
Zhang J et al (2017) Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Hum Genet 2017 136:377–386. https://doi.org/10.1007/s00439-017-1763-1