{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T13:54:08Z","timestamp":1790949248268,"version":"4.1.0"},"reference-count":56,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,7,4]],"date-time":"2026-07-04T00:00:00Z","timestamp":1783123200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T00:00:00Z","timestamp":1790899200000},"content-version":"vor","delay-in-days":90,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"DOI":"10.1186\/s12920-026-02424-4","type":"journal-article","created":{"date-parts":[[2026,7,4]],"date-time":"2026-07-04T03:56:24Z","timestamp":1783137384000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic architecture of patients with autism spectrum disorder \u2013 data analysis based on the literature review"],"prefix":"10.1186","volume":"19","author":[{"given":"Gabriela","family":"R\u0119ka","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katarzyna","family":"Wojciechowska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Lejman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,7,4]]},"reference":[{"issue":"2","key":"2424_CR1","doi-asserted-by":"publisher","first-page":"22m03339","DOI":"10.4088\/PCC.22m03339","volume":"25","author":"P Arun","year":"2023","unstructured":"Arun P, Azad C, Kaur G, Sharma P. A community-based study of antenatal and neonatal risk factors in autism spectrum disorder. Prim Care Companion CNS Disord. 2023;25(2):22m03339. https:\/\/doi.org\/10.4088\/PCC.22m03339.","journal-title":"Prim Care Companion CNS Disord"},{"key":"2424_CR2","doi-asserted-by":"publisher","first-page":"105436","DOI":"10.1016\/j.neubiorev.2023.105436","volume":"155","author":"M Micai","year":"2023","unstructured":"Micai M, Fatta LM, Gila L, Caruso A, Salvitti T, Fulceri F, et al. Prevalence of co-occurring conditions in children and adults with autism spectrum disorder: A systematic review and meta-analysis. Neurosci Biobehav Rev. 2023;155:105436. https:\/\/doi.org\/10.1016\/j.neubiorev.2023.105436.","journal-title":"Neurosci Biobehav Rev"},{"issue":"6","key":"2424_CR3","doi-asserted-by":"publisher","first-page":"405","DOI":"10.7417\/CT.2024.5147","volume":"175","author":"TT Tran","year":"2024","unstructured":"Tran TT, Nguyen VT, Nguyen MP, Huynh Nguyen PQ, Le TTH, Nguyen HY, et al. Prevalence of autism spectrum disorder diagnosed according to DSM-5 criteria and associated factors in preschoolers in southern Vietnam. Clin Ter. 2024;175(6):405\u201311. https:\/\/doi.org\/10.7417\/CT.2024.5147.","journal-title":"Clin Ter"},{"issue":"10","key":"2424_CR4","doi-asserted-by":"publisher","first-page":"5547","DOI":"10.3390\/ijms25105547","volume":"25","author":"WH Chien","year":"2024","unstructured":"Chien WH, Chen CH, Cheng MC, Wu YY, Gau SS. Neuregulin 2 is a candidate gene for autism spectrum disorder. Int J Mol Sci. 2024;25(10):5547. https:\/\/doi.org\/10.3390\/ijms25105547.","journal-title":"Int J Mol Sci"},{"issue":"7","key":"2424_CR5","doi-asserted-by":"publisher","first-page":"1208","DOI":"10.1038\/s41593-023-01361-0","volume":"26","author":"JT Morton","year":"2023","unstructured":"Morton JT, Jin DM, Mills RH, Shao Y, Rahman G, McDonald D, et al. Multi-level analysis of the gut-brain axis shows autism spectrum disorder-associated molecular and microbial profiles. Nat Neurosci. 2023;26(7):1208\u201317. https:\/\/doi.org\/10.1038\/s41593-023-01361-0.","journal-title":"Nat Neurosci"},{"issue":"2","key":"2424_CR6","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1177\/13623613211019547","volume":"26","author":"M Arenella","year":"2022","unstructured":"Arenella M, Cadby G, De Witte W, Jones RM, Whitehouse AJ, Moses EK, et al. Potential role for immune-related genes in autism spectrum disorders: Evidence from genome-wide association meta-analysis of autistic traits. Autism. 2022;26(2):361\u201372. https:\/\/doi.org\/10.1177\/13623613211019547.","journal-title":"Autism"},{"issue":"11","key":"2424_CR7","doi-asserted-by":"publisher","first-page":"e0277466","DOI":"10.1371\/journal.pone.0277466","volume":"17","author":"A Camasio","year":"2022","unstructured":"Camasio A, Panzeri E, Mancuso L, Costa T, Manuello J, Ferraro M, et al. Linking neuroanatomical abnormalities in autism spectrum disorder with gene expression of candidate ASD genes: A meta-analytic and network-oriented approach. PLoS ONE. 2022;17(11):e0277466. https:\/\/doi.org\/10.1371\/journal.pone.0277466.","journal-title":"PLoS ONE"},{"issue":"1","key":"2424_CR8","doi-asserted-by":"publisher","first-page":"256","DOI":"10.1038\/s41398-021-01378-8","volume":"11","author":"C Rodriguez-Fontenla","year":"2021","unstructured":"Rodriguez-Fontenla C, Carracedo A. UTMOST, a single and cross-tissue TWAS (Transcriptome Wide Association Study), reveals new ASD (Autism Spectrum Disorder) associated genes. Transl Psychiatry. 2021;11(1):256. https:\/\/doi.org\/10.1038\/s41398-021-01378-8.","journal-title":"Transl Psychiatry"},{"issue":"23","key":"2424_CR9","doi-asserted-by":"publisher","first-page":"4409","DOI":"10.1016\/j.cell.2022.10.009","volume":"185","author":"B Trost","year":"2022","unstructured":"Trost B, Thiruvahindrapuram B, Chan AJS, Engchuan W, Higginbotham EJ, Howe JL, et al. Genomic architecture of autism from comprehensive whole-genome sequence annotation. Cell. 2022;185(23):4409\u2013e442718. https:\/\/doi.org\/10.1016\/j.cell.2022.10.009.","journal-title":"Cell"},{"issue":"3","key":"2424_CR10","doi-asserted-by":"publisher","first-page":"100316","DOI":"10.1016\/j.xhgg.2024.100316","volume":"5","author":"S Azidane","year":"2024","unstructured":"Azidane S, Gallego X, Durham L, C\u00e1ceres M, Guney E, P\u00e9rez-Cano L. Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders. HGG Adv. 2024;5(3):100316. https:\/\/doi.org\/10.1016\/j.xhgg.2024.100316.","journal-title":"HGG Adv"},{"issue":"8","key":"2424_CR11","doi-asserted-by":"publisher","first-page":"903","DOI":"10.3390\/genes16080903","volume":"16","author":"M Dobre","year":"2025","unstructured":"Dobre M, Gaina G, Erbescu A, Glangher A, Linca FI, Ioana D, et al. FMR1 methylation pattern and repeat expansion screening in a cohort of boys with autism spectrum disorders: correlation of genetic findings with clinical presentations. Genes (Basel). 2025;16(8):903. https:\/\/doi.org\/10.3390\/genes16080903.","journal-title":"Genes (Basel)"},{"key":"2424_CR12","doi-asserted-by":"publisher","first-page":"852208","DOI":"10.3389\/fpsyt.2022.852208","volume":"13","author":"K Lubbers","year":"2022","unstructured":"Lubbers K, Stijl EM, Dierckx B, Hagenaar DA, Ten Hoopen LW, Legerstee JS, et al. ENCORE Expertise Center. Autism symptoms in children and young adults with fragile X syndrome, Angelman syndrome, tuberous sclerosis complex, and neurofibromatosis type 1: a cross-syndrome comparison. Front Psychiatry. 2022;13:852208. https:\/\/doi.org\/10.3389\/fpsyt.2022.852208.","journal-title":"Front Psychiatry"},{"issue":"6","key":"2424_CR13","doi-asserted-by":"publisher","first-page":"874","DOI":"10.1002\/ana.26249","volume":"90","author":"JK Capal","year":"2021","unstructured":"Capal JK, Williams ME, Pearson DA, Kissinger R, Horn PS, Murray D, TACERN Study Group, et al. Profile of autism spectrum disorder in tuberous sclerosis complex: results from a longitudinal, prospective, multisite study. Ann Neurol. 2021;90(6):874\u201386. https:\/\/doi.org\/10.1002\/ana.26249.","journal-title":"Ann Neurol"},{"issue":"1","key":"2424_CR14","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1186\/s11689-021-09364-3","volume":"13","author":"J Begum-Ali","year":"2021","unstructured":"Begum-Ali J, Kolesnik-Taylor A, Quiroz I, Mason L, Garg S, Green J, et al. STAARS and EDEN Teams. Early differences in auditory processing relate to autism spectrum disorder traits in infants with neurofibromatosis type I. J Neurodev Disord. 2021;13(1):22. https:\/\/doi.org\/10.1186\/s11689-021-09364-3.","journal-title":"J Neurodev Disord"},{"issue":"1","key":"2424_CR15","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1186\/s13229-024-00619-z","volume":"15","author":"R Yin","year":"2024","unstructured":"Yin R, Wack M, Hassen-Khodja C, McDuffie MT, Bliss G, Horn EJ, et al. Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry. Mol Autism. 2024;15(1):40. https:\/\/doi.org\/10.1186\/s13229-024-00619-z.","journal-title":"Mol Autism"},{"issue":"1","key":"2424_CR16","doi-asserted-by":"publisher","first-page":"56","DOI":"10.1007\/s44162-025-00119-5","volume":"4","author":"SM Morris","year":"2025","unstructured":"Morris SM, Tierney E. Cross-sectional analysis of expressive and receptive language skills in Smith-Lemli-Opitz syndrome (SLOS). J Rare Dis (Berlin). 2025;4(1):56. https:\/\/doi.org\/10.1007\/s44162-025-00119-5.","journal-title":"J Rare Dis (Berlin)"},{"key":"2424_CR17","doi-asserted-by":"publisher","first-page":"585700","DOI":"10.3389\/fpsyt.2020.585700","volume":"11","author":"MM Geoffray","year":"2021","unstructured":"Geoffray MM, Falissard B, Green J, Kerr B, Evans DG, Huson S, et al. Autism spectrum disorder symptom profile across the RASopathies. Front Psychiatry. 2021;11:585700. https:\/\/doi.org\/10.3389\/fpsyt.2020.585700.","journal-title":"Front Psychiatry"},{"issue":"2","key":"2424_CR18","first-page":"137","volume":"77","author":"MN Ashikin","year":"2022","unstructured":"Ashikin MN, Norazlin KN, Juriza I. The prevalence of autism spectrum disorder in Down syndrome children attending the Child Development Centre in Universiti Kebangsaan Malaysia Medical Centre. Med J Malaysia. 2022;77(2):137\u201342.","journal-title":"Med J Malaysia"},{"issue":"11","key":"2424_CR19","doi-asserted-by":"publisher","first-page":"2323","DOI":"10.1007\/s00787-022-02070-y","volume":"32","author":"N Bouw","year":"2023","unstructured":"Bouw N, Swaab H, Tartaglia N, Van der Wilson RL, van Rijn S. Early symptoms of autism spectrum disorder (ASD) in 1\u20138 year old children with sex chromosome trisomies (XXX, XXY, XYY), and the predictive value of joint attention. Eur Child Adolesc Psychiatry. 2023;32(11):2323\u201334. https:\/\/doi.org\/10.1007\/s00787-022-02070-y.","journal-title":"Eur Child Adolesc Psychiatry"},{"issue":"2","key":"2424_CR20","doi-asserted-by":"publisher","first-page":"615","DOI":"10.1007\/s10803-020-04833-5","volume":"53","author":"S Annunziata","year":"2023","unstructured":"Annunziata S, Bulgheroni S, D\u2019Arrigo S, Esposito S, Taddei M, Saletti V, et al. CGH findings in children with complex and essential autistic spectrum disorder. J Autism Dev Disord. 2023;53(2):615\u201323. https:\/\/doi.org\/10.1007\/s10803-020-04833-5.","journal-title":"J Autism Dev Disord"},{"issue":"5","key":"2424_CR21","doi-asserted-by":"publisher","first-page":"e70801","DOI":"10.1002\/hsr2.70801","volume":"8","author":"M Mkhitaryan","year":"2025","unstructured":"Mkhitaryan M, Avetisyan T, Yeritsyan H, Harutyunyan H, Yenkoyan K. Unraveling the genetic and environmental risk factors of autism spectrum disorder through a case-control study in Armenia. Health Sci Rep. 2025;8(5):e70801. https:\/\/doi.org\/10.1002\/hsr2.70801.","journal-title":"Health Sci Rep"},{"issue":"1","key":"2424_CR22","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1186\/s13039-021-00574-x","volume":"14","author":"Y Zhang","year":"2021","unstructured":"Zhang Y, Liu X, Gao H, Cui W, Zhang B, Zhao Y. Molecular and phenotypic characteristics of 15q24 microdeletion in pediatric patients with developmental disorders. Mol Cytogenet. 2021;14(1):57. https:\/\/doi.org\/10.1186\/s13039-021-00574-x.","journal-title":"Mol Cytogenet"},{"issue":"8","key":"2424_CR23","doi-asserted-by":"publisher","first-page":"1053","DOI":"10.3390\/genes15081053","volume":"15","author":"AK Mitrakos","year":"2024","unstructured":"Mitrakos AK, Kosma K, Makrythanasis P, Tzetis M. The phenotypic spectrum of 16p11.2 recurrent chromosomal rearrangements. Genes (Basel). 2024;15(8):1053. https:\/\/doi.org\/10.3390\/genes15081053.","journal-title":"Genes (Basel)"},{"issue":"4","key":"2424_CR24","doi-asserted-by":"publisher","first-page":"820","DOI":"10.3390\/genes14040820","volume":"14","author":"AK Sandoval-Talamantes","year":"2023","unstructured":"Sandoval-Talamantes AK, Mori M\u00c1, Santos-Simarro F, Garc\u00eda-Mi\u00f1aur S, Mansilla E, Tenorio JA, et al. Chromosomal microarray in patients with non-syndromic autism spectrum disorders in the clinical routine of a tertiary hospital. Genes (Basel). 2023;14(4):820. https:\/\/doi.org\/10.3390\/genes14040820.","journal-title":"Genes (Basel)"},{"issue":"8","key":"2424_CR25","doi-asserted-by":"publisher","first-page":"e2182","DOI":"10.1002\/mgg3.2182","volume":"11","author":"F Cucinotta","year":"2023","unstructured":"Cucinotta F, Lintas C, Tomaiuolo P, Baccarin M, Picinelli C, Castronovo P, et al. Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorder. Mol Genet Genomic Med. 2023;11(8):e2182. https:\/\/doi.org\/10.1002\/mgg3.2182.","journal-title":"Mol Genet Genomic Med"},{"issue":"2","key":"2424_CR26","doi-asserted-by":"publisher","first-page":"180","DOI":"10.4274\/MMJ.galenos.2022.70962","volume":"37","author":"A Ayaz","year":"2022","unstructured":"Ayaz A, Gezdirici A, Yilmaz Gulec E, Ozalp O, Koseoglu AH, Dogru Z, et al. Diagnostic value of microarray method in autism spectrum disorder, intellectual disability, and multiple congenital anomalies and some candidate genes for autism: experience of two centers. Medeni Med J. 2022;37(2):180\u201393. https:\/\/doi.org\/10.4274\/MMJ.galenos.2022.70962.","journal-title":"Medeni Med J"},{"issue":"6","key":"2424_CR27","doi-asserted-by":"publisher","first-page":"509","DOI":"10.7417\/CT.2023.5018","volume":"174","author":"M Martucci","year":"2023","unstructured":"Martucci M, Novelli M, Scarselli V, Di Palma F, Fiorelli F, Bernardini L, et al. Array-comparative genomic hybridization analysis in a cohort of 130 children with autism spectrum disorders: a single center Italian study. Clin Ter. 2023;174(6):509\u201317. https:\/\/doi.org\/10.7417\/CT.2023.5018.","journal-title":"Clin Ter"},{"issue":"8","key":"2424_CR28","doi-asserted-by":"publisher","first-page":"e1939","DOI":"10.1002\/mgg3.1939","volume":"10","author":"F Chehbani","year":"2022","unstructured":"Chehbani F, Tomaiuolo P, Picinelli C, Baccarin M, Castronovo P, Scattoni ML, et al. Yield of array-CGH analysis in Tunisian children with autism spectrum disorder. Mol Genet Genomic Med. 2022;10(8):e1939. https:\/\/doi.org\/10.1002\/mgg3.1939.","journal-title":"Mol Genet Genomic Med"},{"issue":"4","key":"2424_CR29","doi-asserted-by":"publisher","first-page":"160","DOI":"10.3390\/jpm10040160","volume":"10","author":"S Calderoni","year":"2020","unstructured":"Calderoni S, Ricca I, Balboni G, Cagiano R, Cassandrini D, Doccini S, et al. Evaluation of chromosome microarray analysis in a large cohort of females with autism spectrum disorders: a single center Italian study. J Pers Med. 2020;10(4):160. https:\/\/doi.org\/10.3390\/jpm10040160.","journal-title":"J Pers Med"},{"issue":"10","key":"2424_CR30","doi-asserted-by":"publisher","first-page":"101202","DOI":"10.1016\/j.gim.2024.101202","volume":"26","author":"JR Wright","year":"2024","unstructured":"Wright JR, Astrovskaya I, Barns SD, Goler A, Zhou X, Shu C, et al. Return of genetic research results in 21,532 individuals with autism. Genet Med. 2024;26(10):101202. https:\/\/doi.org\/10.1016\/j.gim.2024.101202.","journal-title":"Genet Med"},{"issue":"2","key":"2424_CR31","doi-asserted-by":"publisher","first-page":"117","DOI":"10.22037\/ijcn.v16i4.34843","volume":"16","author":"MR Ghasemi","year":"2022","unstructured":"Ghasemi MR, Zargari P, Sadeghi H, Bagheri S, Sadeghgi B, Mirfakhraie R, et al. Analysis of cytogenetic abnormalities in Iranian patients with syndromic autism spectrum disorder: a case series. Iran J Child Neurol. 2022;16(2):117\u201328. https:\/\/doi.org\/10.22037\/ijcn.v16i4.34843.","journal-title":"Iran J Child Neurol"},{"key":"2424_CR32","unstructured":"GeneCards. \u2013 The Human Gene Database. https:\/\/genecards.org. Accessed 3 June 2026."},{"key":"2424_CR33","unstructured":"Simons Foundation Autism Research Initiative (SFARI). gene database. https:\/\/gene.sfari.org. Accessed 3 June 2026."},{"key":"2424_CR34","unstructured":"Online Mendelian Inheritance in Men. OMIM. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD). https:\/\/omim.org. Accessed 3 June 2026."},{"issue":"11","key":"2424_CR35","doi-asserted-by":"publisher","first-page":"2091","DOI":"10.3390\/genes14112091","volume":"14","author":"AK Sandoval-Talamantes","year":"2023","unstructured":"Sandoval-Talamantes AK, Tenorio-Casta\u00f1o JA, Santos-Simarro F, Ad\u00e1n C, Fern\u00e1ndez-Elvira M, Garc\u00eda-Fern\u00e1ndez L, et al. NGS custom panel implementation in patients with non-syndromic autism spectrum disorders in the clinical routine of a tertiary hospital. Genes (Basel). 2023;14(11):2091. https:\/\/doi.org\/10.3390\/genes14112091.","journal-title":"Genes (Basel)"},{"issue":"1","key":"2424_CR36","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3390\/genes12010001","volume":"12","author":"N Kim","year":"2020","unstructured":"Kim N, Kim KH, Lim WJ, Kim J, Kim SA, Yoo HJ. Whole exome sequencing identifies novel de novo variants interacting with six gene networks in autism spectrum disorder. Genes (Basel). 2020;12(1):1. https:\/\/doi.org\/10.3390\/genes12010001.","journal-title":"Genes (Basel)"},{"key":"2424_CR37","doi-asserted-by":"publisher","first-page":"1515793","DOI":"10.3389\/fpsyt.2025.1515793","volume":"16","author":"A Bl\u00e1zquez","year":"2025","unstructured":"Bl\u00e1zquez A, Rodriguez-Revenga L, Alvarez-Mora MI, Calvo R. Clinical and genetic findings in autism spectrum disorders analyzed using exome sequencing. Front Psychiatry. 2025;16:1515793. https:\/\/doi.org\/10.3389\/fpsyt.2025.1515793.","journal-title":"Front Psychiatry"},{"key":"2424_CR38","doi-asserted-by":"publisher","unstructured":"Wawer J, Kocki J, Wawer GA, G\u0142adki M, Koci\u0144ski B, Urbanowicz T et al. Etiological role of SHANK genes in autism spectrum disorders: in search for diagnostic marker. 2025. https:\/\/doi.org\/10.20944\/preprints202506.1773.v1.","DOI":"10.20944\/preprints202506.1773.v1"},{"issue":"1","key":"2424_CR39","doi-asserted-by":"publisher","first-page":"9230","DOI":"10.1038\/s41598-024-57942-x","volume":"14","author":"H Khan","year":"2024","unstructured":"Khan H, Harripaul R, Mikhailov A, Herzi S, Bowers S, Ayub M, et al. Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder. Sci Rep. 2024;14(1):9230. https:\/\/doi.org\/10.1038\/s41598-024-57942-x.","journal-title":"Sci Rep"},{"issue":"10","key":"2424_CR40","doi-asserted-by":"publisher","first-page":"1469","DOI":"10.1007\/s12264-023-01037-6","volume":"39","author":"B Yuan","year":"2023","unstructured":"Yuan B, Wang M, Wu X, Cheng P, Zhang R, Zhang R, et al. Identification of de novo mutations in the Chinese autism spectrum disorder cohort via whole-exome sequencing unveils brain regions implicated in autism. Neurosci Bull. 2023;39(10):1469\u201380. https:\/\/doi.org\/10.1007\/s12264-023-01037-6.","journal-title":"Neurosci Bull"},{"issue":"7","key":"2424_CR41","doi-asserted-by":"publisher","first-page":"1671","DOI":"10.1038\/s41591-023-02408-2","volume":"29","author":"T Rolland","year":"2023","unstructured":"Rolland T, Cliquet F, Anney RJL, Moreau C, Traut N, Mathieu A, et al. Phenotypic effects of genetic variants associated with autism. Nat Med. 2023;29(7):1671\u201380. https:\/\/doi.org\/10.1038\/s41591-023-02408-2.","journal-title":"Nat Med"},{"issue":"12","key":"2424_CR42","doi-asserted-by":"publisher","first-page":"2464","DOI":"10.1016\/j.gim.2022.08.020","volume":"24","author":"Y Sleyp","year":"2022","unstructured":"Sleyp Y, Valenzuela I, Accogli A, Ballon K, Ben-Zeev B, Berkovic SF, et al. De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder. Genet Med. 2022;24(12):2464\u201374. https:\/\/doi.org\/10.1016\/j.gim.2022.08.020.","journal-title":"Genet Med"},{"issue":"1","key":"2424_CR43","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1016\/j.ajhg.2024.11.003","volume":"112","author":"M Scala","year":"2025","unstructured":"Scala M, Bradley CA, Howe JL, Trost B, Salazar NB, Shum C, et al. Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus. Am J Hum Genet. 2025;112(1):154\u201367. https:\/\/doi.org\/10.1016\/j.ajhg.2024.11.003.","journal-title":"Am J Hum Genet"},{"issue":"1","key":"2424_CR44","doi-asserted-by":"publisher","first-page":"292","DOI":"10.1186\/s12883-023-03341-0","volume":"23","author":"F Sheth","year":"2023","unstructured":"Sheth F, Shah J, Jain D, Shah S, Patel H, Patel K, et al. Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test. BMC Neurol. 2023;23(1):292. https:\/\/doi.org\/10.1186\/s12883-023-03341-0.","journal-title":"BMC Neurol"},{"issue":"9","key":"2424_CR45","doi-asserted-by":"publisher","first-page":"1320","DOI":"10.1038\/s41588-022-01104-0","volume":"54","author":"JM Fu","year":"2022","unstructured":"Fu JM, Satterstrom FK, Peng M, Brand H, Collins RL, Dong S, et al. Rare coding variation provides insight into the genetic architecture and phenotypic context of autism. Nat Genet. 2022;54(9):1320\u201331. https:\/\/doi.org\/10.1038\/s41588-022-01104-0.","journal-title":"Nat Genet"},{"issue":"19","key":"2424_CR46","doi-asserted-by":"publisher","first-page":"9672","DOI":"10.3390\/ijms26199672","volume":"26","author":"M Wawszczak-Kasza","year":"2025","unstructured":"Wawszczak-Kasza M, Rachuna J, Madej \u0141, Lewitowicz W, Lewitowicz P, Horecka-Lewitowicz A. Familial molecular burden in autism spectrum disorder: a next-generation sequencing study of Polish affected families. Int J Mol Sci. 2025;26(19):9672. https:\/\/doi.org\/10.3390\/ijms26199672.","journal-title":"Int J Mol Sci"},{"issue":"1","key":"2424_CR47","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1186\/s13229-021-00465-3","volume":"12","author":"B Mahjani","year":"2021","unstructured":"Mahjani B, De Rubeis S, Gustavsson Mahjani C, Mulhern M, Xu X, Klei L, et al. Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder. Mol Autism. 2021;12(1):65. https:\/\/doi.org\/10.1186\/s13229-021-00465-3.","journal-title":"Mol Autism"},{"key":"2424_CR48","doi-asserted-by":"publisher","first-page":"595934","DOI":"10.3389\/fgene.2021.595934","volume":"12","author":"J Lee","year":"2021","unstructured":"Lee J, Ha S, Ahn J, Lee ST, Choi JR, Cheon KA. The role of ion channel-related genes in autism spectrum disorder: a study using next-generation sequencing. Front Genet. 2021;12:595934. https:\/\/doi.org\/10.3389\/fgene.2021.595934.","journal-title":"Front Genet"},{"issue":"1","key":"2424_CR49","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1186\/s40246-024-00587-8","volume":"18","author":"M Lopes-Marques","year":"2024","unstructured":"Lopes-Marques M, Mort M, Carneiro J, Azevedo A, Amaro AP, Cooper DN, et al. Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease. Hum Genomics. 2024;18(1):20. https:\/\/doi.org\/10.1186\/s40246-024-00587-8.","journal-title":"Hum Genomics"},{"issue":"10","key":"2424_CR50","doi-asserted-by":"publisher","first-page":"5547","DOI":"10.3390\/ijms25105547","volume":"25","author":"WH Chien","year":"2024","unstructured":"Chien WH, Chen CH, Cheng MC, Wu YY, Gau SSF. Neuregulin 2 is a candidate gene for autism spectrum disorder. Int J Mol Sci. 2024;25(10):5547. https:\/\/doi.org\/10.3390\/ijms25105547.","journal-title":"Int J Mol Sci"},{"issue":"1","key":"2424_CR51","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1038\/s41398-020-01195-5","volume":"11","author":"X Yao","year":"2021","unstructured":"Yao X, Glessner JT, Li J, Qi X, Hou X, Zhu C, et al. Integrative analysis of genome-wide association studies identifies novel loci associated with neuropsychiatric disorders. Transl Psychiatry. 2021;11(1):69. https:\/\/doi.org\/10.1038\/s41398-020-01195-5.","journal-title":"Transl Psychiatry"},{"issue":"10","key":"2424_CR52","doi-asserted-by":"publisher","first-page":"1310","DOI":"10.3390\/genes15101310","volume":"15","author":"A S\u00e1nchez Su\u00e1rez","year":"2024","unstructured":"S\u00e1nchez Su\u00e1rez A, Mart\u00ednez Men\u00e9ndez B, Escolar Escamilla E, Mart\u00ednez Sarries FJ, Esparza Garrido MI, Gil-Fournier B, et al. Whole exome sequencing and panel-based analysis in 176 Spanish children with neurodevelopmental disorders: focus on autism spectrum disorder and\/or intellectual disability\/global developmental delay. Genes (Basel). 2024;15(10):1310. https:\/\/doi.org\/10.3390\/genes15101310.","journal-title":"Genes (Basel)"},{"issue":"9","key":"2424_CR53","doi-asserted-by":"publisher","first-page":"1454","DOI":"10.1016\/j.ajhg.2023.07.010","volume":"110","author":"C Lowther","year":"2023","unstructured":"Lowther C, Valkanas E, Giordano JL, Wang HZ, Currall BB, O\u2019Keefe K, et al. Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies. Am J Hum Genet. 2023;110(9):1454\u201369. https:\/\/doi.org\/10.1016\/j.ajhg.2023.07.010.","journal-title":"Am J Hum Genet"},{"issue":"9","key":"2424_CR54","doi-asserted-by":"publisher","first-page":"1305","DOI":"10.1038\/s41588-022-01148-2","volume":"54","author":"X Zhou","year":"2022","unstructured":"Zhou X, Feliciano P, Shu C, Wang T, Astrovskaya I, Hall JB, et al. Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes. Nat Genet. 2022;54(9):1305\u201319. https:\/\/doi.org\/10.1038\/s41588-022-01148-2.","journal-title":"Nat Genet"},{"issue":"9","key":"2424_CR55","doi-asserted-by":"publisher","first-page":"2957","DOI":"10.1007\/s00787-023-02138-3","volume":"33","author":"N Garrido-Torres","year":"2024","unstructured":"Garrido-Torres N, Guzm\u00e1n-Torres K, Garc\u00eda-Cerro S, Pinilla Berm\u00fadez G, Cruz-Baquero C, Ochoa H, et al. miRNAs as biomarkers of autism spectrum disorder: a systematic review and meta-analysis. Eur Child Adolesc Psychiatry. 2024;33(9):2957\u201390. https:\/\/doi.org\/10.1007\/s00787-023-02138-3.","journal-title":"Eur Child Adolesc Psychiatry"},{"key":"2424_CR56","doi-asserted-by":"publisher","unstructured":"Huang J, Liu J, Tian R, Liu K, Zhuang P, Sherman HT et al. A next generation sequencing-based protocol for screening of variants of concern in autism spectrum disorder. Cells. 2021;11(1):10. https:\/\/doi.org\/10.3390\/cells11010010. Erratum in: Cells. 2022;11(20):3276. doi: 10.3390\/cells11203276.","DOI":"10.3390\/cells11010010"}],"container-title":["BMC Medical Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12920-026-02424-4","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-026-02424-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-026-02424-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T13:02:00Z","timestamp":1790946120000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1186\/s12920-026-02424-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,4]]},"references-count":56,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["2424"],"URL":"https:\/\/doi.org\/10.1186\/s12920-026-02424-4","relation":{},"ISSN":["1755-8794"],"issn-type":[{"value":"1755-8794","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,4]]},"assertion":[{"value":"8 February 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 June 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 July 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"This review article does not involve any research studies with human participants or animals conducted by any of the authors.","order":1,"name":"Ethics","label":"Ethics approval and consent to participate","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":2,"name":"Ethics","label":"Consent for publication","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"148"}}