https://m2.mtmt.hu/ eng 2026-05-25 05:12 JournalArticle 34430014 VALIDATED true 0 false 2026-05-23T10:36:38.753+0000 2024-01-18T10:50:02.864+0000 2023-12-12T07:30:47.472+0000 true 10019982 Sonnevend Kinga /api/admin/10019982 Admin true 10019982 2024-05-24T08:16:07.743+0000 2024-05-24T08:16:07.743+0000 2023-12-19T12:03:56.918+0000 true 10080205 Szalóky-Siki Ágnes /api/admin/10080205 Admin true true false true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle true 1134514 Survey paper true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle /api/subtype/1134514 Összefoglaló cikk SubType 102 true 1134514 true 1 /api/category/1 Category true 1 Kereszturi, Éva Diversity and Classification of Genetic Variations in Autism Spectrum Disorder true true /api/journal/10003252 REVIEWED true false 10003252 false 10003252 true 1661-6596 1422-0067 Journal FOREIGN 24 23 16768 16768 20 2023 Autism spectrum disorder (ASD) is a neurodevelopmental condition with symptoms that affect the whole personality and all aspects of life. Although there is a high degree of heterogeneity in both its etiology and its characteristic behavioral patterns, the disorder is well-captured along the autistic triad. Currently, ASD status can be confirmed following an assessment of behavioral features, but there is a growing emphasis on conceptualizing autism as a spectrum, which allows for establishing a diagnosis based on the level of support need, free of discrete categories. Since ASD has a high genetic predominance, the number of genetic variations identified in the background of the condition is increasing exponentially as genetic testing methods are rapidly evolving. However, due to the huge amount of data to be analyzed, grouping the different DNA variations is still challenging. Therefore, in the present review, a multidimensional classification scheme was developed to accommodate most of the currently known genetic variants associated with autism. Genetic variations have been grouped according to six criteria (extent, time of onset, information content, frequency, number of genes involved, inheritance pattern), which are themselves not discrete categories, but form a coherent continuum in line with the autism spectrum approach. true 2023 true true true false true false GOLD 2026-05-23 false http://www.mdpi.com/journal/ijms 31 0 31 30 1 30 30 24 24 31 31 30 30 30 1 0 31 30 31 30 0 0 0 Folyóiratcikk Journal Article 24 29 Könyvrészlet Chapter in Book 25 2 Könyv Book 23 0 Egyéb konferenciaközlemény Conference paper 31 0 Egyéb konferenciakötet Conference proceedings 32 0 Oltalmi formák Protection forms 26 0 Disszertáció Thesis 28 0 Egyéb Miscellaneous 29 0 Alkotás Achievement 22 0 Kutatási adat Research data 33 0 Folyóiratcikk Journal Article 24 0 0 0 Könyvrészlet Chapter in Book 25 0 0 0 Könyv Book 23 0 0 0 Egyéb konferenciaközlemény Conference paper 31 0 0 0 Egyéb konferenciakötet Conference proceedings 32 0 0 0 Oltalmi formák Protection forms 26 0 0 0 Disszertáció Thesis 28 0 0 0 Egyéb Miscellaneous 29 0 0 0 Alkotás Achievement 22 0 0 0 Kutatási adat Research data 33 0 0 0 2024 0 11 10 11 10 2025 0 14 14 14 14 2026 0 6 6 6 6 D1 false false false false 2023-12-18T12:03:56.689+0000 Molekuláris Biológiai Tanszék (SE / AOK / I / BMBI) 1 6 1 1 0 true Language 10002 /api/language/10002 Angol English true 2 true PersonAuthorship 113224450 /api/authorship/113224450 1 1.0 true false true Author 10020321 /api/author/10020321 Kereszturi Éva true 10020321 true Kereszturi Éva true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PublicationIdentifier 25097392 /api/publicationidentifier/25097392 PlainSource 6 /api/publicationsource/6 PublicationSourceType 10001 /api/publicationsourcetype/10001 true true true DOI DOI https://doi.org/@@@ true true 6 true IDENTICAL 10.3390/ijms242316768 https://doi.org/10.3390/ijms242316768 false true PublicationIdentifier 25317434 /api/publicationidentifier/25317434 PlainSource 1 /api/publicationsource/1 PublicationSourceType 10003 /api/publicationsourcetype/10003 false true true WoS WoS https://www.webofscience.com/wos/woscc/full-record/@@@ true true 1 true IDENTICAL 001116242800001 https://www.webofscience.com/wos/woscc/full-record/001116242800001 false true PublicationIdentifier 25126397 /api/publicationidentifier/25126397 PlainSource 3 /api/publicationsource/3 PublicationSourceType 10003 /api/publicationsourcetype/10003 false true true Scopus Scopus http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-@@@ true true 3 true IDENTICAL 85179310322 http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85179310322 true true PublicationIdentifier 25097394 /api/publicationidentifier/25097394 PlainSource 17 /api/publicationsource/17 PublicationSourceType 10003 /api/publicationsourcetype/10003 false true true PubMed PubMed http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=@@@&dopt=Abstract true true 17 true IDENTICAL 38069091 http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=38069091&dopt=Abstract false true SjrRating 11388415 /api/sjrrating/11388415 7 0.1 journal RatingType 10002 /api/ratingtype/10002 sjr true true ClassificationExternal 1604 /api/classificationexternal/1604 true 1604 true D1 DIRECT true true Reference 47911403 /api/reference/47911403 1 10.1038/526029a false true Reference 47911404 /api/reference/47911404 2 false true Reference 47911405 /api/reference/47911405 3 10.1007/BF01837709 false true Reference 47911406 /api/reference/47911406 4 false true Reference 47911407 /api/reference/47911407 5 10.1007/s10803-011-1360-4 false true Reference 47911408 /api/reference/47911408 6 false true Reference 47911409 /api/reference/47911409 7 10.1038/s41380-020-0748-y false true Reference 47911410 /api/reference/47911410 8 10.1002/aur.239 false true Reference 47911411 /api/reference/47911411 9 10.1002/aur.2696 false true Reference 47911412 /api/reference/47911412 10 false true Reference 47911413 /api/reference/47911413 11 10.15585/mmwr.ss6503a1 false true Reference 47911414 /api/reference/47911414 12 10.15585/mmwr.ss6706a1 false true Reference 47911415 /api/reference/47911415 13 10.15585/mmwr.ss6904a1 false true Reference 47911416 /api/reference/47911416 14 10.15585/mmwr.ss7011a1 false true Reference 47911417 /api/reference/47911417 15 10.15585/mmwr.ss7202a1 false true Reference 47911418 /api/reference/47911418 16 10.1007/s10803-019-04328-y false true Reference 47911419 /api/reference/47911419 17 10.7150/ijbs.24063 false true Reference 47911420 /api/reference/47911420 18 10.3390/brainsci10050274 false true Reference 47911421 /api/reference/47911421 19 10.1017/S003329171400172X false true Reference 47911422 /api/reference/47911422 20 10.1146/annurev-publhealth-031816-044318 false true Reference 47911423 /api/reference/47911423 21 10.1016/j.jaac.2017.03.013 false true Reference 47911424 /api/reference/47911424 22 10.1001/jama.289.1.49 false true Reference 47911425 /api/reference/47911425 23 10.3389/fpsyt.2023.1108110 false true Reference 47911426 /api/reference/47911426 24 10.1097/YCO.0000000000000575 false true Reference 47911427 /api/reference/47911427 25 10.1177/1362361316671012 false true Reference 47911428 /api/reference/47911428 26 10.1177/1362361316671845 false true Reference 47911429 /api/reference/47911429 27 10.12740/PP/OnlineFirst/95098 false true Reference 47911430 /api/reference/47911430 28 10.1002/aur.2859 false true Reference 47911431 /api/reference/47911431 29 10.1177/13623613221098240 false true Reference 47911432 /api/reference/47911432 30 10.1542/peds.2010-2825 false true Reference 47911433 /api/reference/47911433 31 10.1001/jamapediatrics.2017.2832 false true Reference 47911434 /api/reference/47911434 32 10.3390/ijms160613217 false true Reference 47911435 /api/reference/47911435 33 10.1016/j.jaac.2018.11.017 false true Reference 47911436 /api/reference/47911436 34 10.1001/jama.2017.12141 false true Reference 47911437 /api/reference/47911437 35 10.1007/978-3-030-30402-7_2 false true Reference 47911438 /api/reference/47911438 36 10.1016/j.ghir.2017.12.003 false true Reference 47911439 /api/reference/47911439 37 10.1007/s11920-020-1141-x false true Reference 47911440 /api/reference/47911440 38 10.1016/S0140-6736(13)61539-1 false true Reference 47911441 /api/reference/47911441 39 10.1186/s13229-017-0121-4 false true Reference 47911442 /api/reference/47911442 40 10.1007/s00018-018-2988-4 false true Reference 47911443 /api/reference/47911443 41 10.1016/S2215-0366(19)30181-6 false true Reference 47911444 /api/reference/47911444 42 10.1016/j.earlhumdev.2019.104863 false true Reference 47911445 /api/reference/47911445 43 10.1542/peds.2010-1036 false true Reference 47911446 /api/reference/47911446 44 10.1038/s41467-019-11039-6 false true Reference 47911447 /api/reference/47911447 45 10.1097/MD.0000000000006696 false true Reference 47911448 /api/reference/47911448 46 10.1007/s00702-020-02188-w false true Reference 47911449 /api/reference/47911449 47 10.1111/jcpp.12499 false true Reference 47911450 /api/reference/47911450 48 10.1001/archgenpsychiatry.2011.76 false true Reference 47911451 /api/reference/47911451 49 10.1001/jamapsychiatry.2014.3028 false true Reference 47911452 /api/reference/47911452 50 10.1001/archpediatrics.2009.98 false true Reference 47911453 /api/reference/47911453 51 10.1177/0883073815580645 false true Reference 47911454 /api/reference/47911454 52 10.1001/jamapediatrics.2018.4076 false true Reference 47911455 /api/reference/47911455 53 10.1002/aur.1414 false true Reference 47911456 /api/reference/47911456 54 10.1007/978-3-030-30402-7_1 false true Reference 47911457 /api/reference/47911457 55 10.1002/ajmg.b.32542 false true Reference 47911458 /api/reference/47911458 56 10.1111/epi.13381 false true Reference 47911459 /api/reference/47911459 57 10.1016/j.jpsychires.2013.10.001 false true Reference 47911460 /api/reference/47911460 58 10.1111/dmcn.13217 false true Reference 47911461 /api/reference/47911461 59 false true Reference 47911462 /api/reference/47911462 60 10.1016/j.schres.2012.10.010 false true Reference 47911463 /api/reference/47911463 61 10.1016/j.schres.2017.01.032 false true Reference 47911464 /api/reference/47911464 62 false true Reference 47911465 /api/reference/47911465 63 10.1007/s10803-017-3439-z false true Reference 47911466 /api/reference/47911466 64 10.1016/S2215-0366(15)00376-4 false true Reference 47911467 /api/reference/47911467 65 10.1177/08830738040190090701 false true Reference 47911468 /api/reference/47911468 66 10.1177/0883073807309788 false true Reference 47911469 /api/reference/47911469 67 10.3389/fgene.2014.00355 false true Reference 47911470 /api/reference/47911470 68 10.1007/s10803-014-2321-5 false true Reference 47911471 /api/reference/47911471 69 10.3390/ijms18030618 false true Reference 47911472 /api/reference/47911472 70 10.1146/annurev-genom-121219-082309 false true Reference 47911473 /api/reference/47911473 71 10.31887/DCNS.2017.19.4/sscherer false true Reference 47911474 /api/reference/47911474 72 10.1097/YCO.0000000000000471 false true Reference 47911475 /api/reference/47911475 73 10.1016/j.ridd.2012.02.013 false true Reference 47911476 /api/reference/47911476 74 10.1007/s10803-013-1860-5 false true Reference 47911477 /api/reference/47911477 75 10.1097/DBP.0000000000000429 false true Reference 47911478 /api/reference/47911478 76 10.1002/ajmg.a.37688 false true Reference 47911479 /api/reference/47911479 77 10.1016/j.jpeds.2013.05.037 false true Reference 47911480 /api/reference/47911480 78 10.1542/peds.2011-0719 false true Reference 47911481 /api/reference/47911481 79 false true Reference 47911482 /api/reference/47911482 80 10.1002/ajmg.c.31448 false true Reference 47911483 /api/reference/47911483 81 10.1352/0895-8017(2008)113[278:POASPI]2.0.CO;2 false true Reference 47911484 /api/reference/47911484 82 10.1136/jmg.34.9.719 false true Reference 47911485 /api/reference/47911485 83 10.1002/ajmg.a.38171 false true Reference 47911486 /api/reference/47911486 84 10.1007/s13311-015-0352-z false true Reference 47911487 /api/reference/47911487 85 10.1002/ajmg.a.37286 false true Reference 47911488 /api/reference/47911488 86 10.1002/1096-8628(20000612)96:3&lt;432::AID-AJMG39&gt;3.0.CO;2-T false true Reference 47911489 /api/reference/47911489 87 10.1159/000490838 false true Reference 47911490 /api/reference/47911490 88 10.3928/19382359-20180419-01 false true Reference 47911491 /api/reference/47911491 89 10.1038/nrg3871 false true Reference 47911492 /api/reference/47911492 90 10.1016/j.crvi.2016.05.004 false true Reference 47911493 /api/reference/47911493 91 10.1016/j.jaac.2013.05.013 false true Reference 47911494 /api/reference/47911494 92 10.1016/j.ajhg.2007.12.009 false true Reference 47911495 /api/reference/47911495 93 10.1016/j.pnpbp.2019.02.012 false true Reference 47911496 /api/reference/47911496 94 10.1111/cge.12101 false true Reference 47911497 /api/reference/47911497 95 10.1016/j.ajhg.2012.05.011 false true Reference 47911498 /api/reference/47911498 96 10.1111/dmcn.13717 false true Reference 47911499 /api/reference/47911499 97 10.1016/j.conb.2012.12.006 false true Reference 47911500 /api/reference/47911500 98 10.1016/j.neuron.2011.05.002 false true Reference 47911501 /api/reference/47911501 99 10.1056/NEJMoa051962 false true Reference 47911502 /api/reference/47911502 100 false true Reference 47911503 /api/reference/47911503 101 10.1038/nature08727 false true Reference 47911504 /api/reference/47911504 102 10.1001/jamapsychiatry.2015.2123 false true Reference 47911505 /api/reference/47911505 103 10.1016/j.celrep.2017.11.037 false true Reference 47911506 /api/reference/47911506 104 10.1016/j.cell.2019.12.036 false true Reference 47911507 /api/reference/47911507 105 10.1038/s41576-020-0231-2 false true Reference 47911508 /api/reference/47911508 106 10.1038/nature13772 false true Reference 47911509 /api/reference/47911509 107 10.1371/journal.pgen.1004580 false true Reference 47911510 /api/reference/47911510 108 10.1038/nrn.2016.183 false true Reference 47911511 /api/reference/47911511 109 10.1038/ng1136 false true Reference 47911512 /api/reference/47911512 110 10.1002/humu.23836 false true Reference 47911513 /api/reference/47911513 111 10.1371/journal.pgen.1006245 false true Reference 47911514 /api/reference/47911514 112 10.1038/nn.4598 false true Reference 47911515 /api/reference/47911515 113 10.1126/science.1138659 false true Reference 47911516 /api/reference/47911516 114 10.1038/ng.3303 false true Reference 47911517 /api/reference/47911517 115 10.1016/j.neuron.2013.01.010 false true Reference 47911518 /api/reference/47911518 116 10.1176/ajp.142.2.187 false true Reference 47911519 /api/reference/47911519 117 10.1126/science.1157657 false true Reference 47911520 /api/reference/47911520 118 10.1016/j.neuron.2012.12.029 false true Reference 47911521 /api/reference/47911521 119 10.1016/j.ajhg.2018.05.002 false true Reference 47911522 /api/reference/47911522 120 10.1126/science.1254806 false true Reference 47911523 /api/reference/47911523 121 10.1038/s41380-018-0049-x false true Reference 47911524 /api/reference/47911524 122 10.1002/aur.1475 false true Reference 47911525 /api/reference/47911525 123 10.1002/aur.73 false true Reference 47911526 /api/reference/47911526 124 10.1016/j.bbrc.2014.08.108 false true Reference 47911527 /api/reference/47911527 125 10.4238/2015.March.27.1 false true Reference 47911528 /api/reference/47911528 126 10.1186/2040-2392-4-23 false true Reference 47911529 /api/reference/47911529 127 10.1038/ncomms6748 false true Reference 47911530 /api/reference/47911530 128 10.3390/ijms21165904 false true Reference 47911531 /api/reference/47911531 129 10.1007/s12031-021-01934-3 false true Reference 47911532 /api/reference/47911532 130 10.1016/j.tins.2018.11.002 false true Reference 47911533 /api/reference/47911533 131 10.1038/nature09146 false true Reference 47911534 /api/reference/47911534 132 10.1016/j.ajhg.2014.03.018 false true Reference 47911535 /api/reference/47911535 133 10.1038/ng.3039 false true Reference 47911536 /api/reference/47911536 134 10.1186/2040-2392-3-9 false true Reference 47911537 /api/reference/47911537 135 10.3390/genes12111667 false true Reference 47911538 /api/reference/47911538 136 10.1038/s41588-022-01064-5 false true Reference 47911539 /api/reference/47911539 137 10.1038/nrdp.2016.35 false true Reference 47911540 /api/reference/47911540 138 10.1186/s11689-016-9145-x false true Reference 47911541 /api/reference/47911541 139 10.1038/nrdp.2017.65 false true Reference 47911542 /api/reference/47911542 140 10.1098/rsob.170216 false true Reference 47911543 /api/reference/47911543 141 false true Reference 47911544 /api/reference/47911544 142 10.1126/science.aap8757 false true Reference 47911545 /api/reference/47911545 143 10.1016/j.cell.2019.07.037 false true Reference 47911546 /api/reference/47911546 144 10.1016/j.jcomdis.2018.05.003 false true Reference 47911547 /api/reference/47911547 145 10.1186/s13229-018-0222-8 false true Reference 47911548 /api/reference/47911548 146 10.1080/1061186X.2019.1630415 false true /api/publication/34430014 <div class="JournalArticle Publication long-list"> <div class="authors"> <img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png"> <div class="autype autype0"> <span class="author-name" mtid="10020321"><a href="/gui2/?type=authors&mode=browse&sel=10020321" target="_blank">Kereszturi Éva ✉ (<span class="authorship-author-name">Kereszturi Éva</span> <span class="authorAux-mtmt"> Biokémia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/<span title="Biokémiai és Molekuláris Biológiai Intézet">BMBI</span>/Molekuláris Biológiai Tanszék</span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;34430014" target="_blank">Diversity and Classification of Genetic Variations in Autism Spectrum Disorder</a></div> <div> <span class="journal-title">INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/1661-6596">1661-6596</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/1422-0067">1422-0067</a>)</span>: <span class="journal-volume">24</span> <span class="journal-issue">23</span> <span class="page"> Paper 16768. 20 p. </span> <span class="year">(2023)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Language: English | </span> <span class="identifiers"> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="10.3390/ijms242316768" target="_blank" href="https://doi.org/10.3390/ijms242316768"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="001116242800001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/001116242800001"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85179310322" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85179310322"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="38069091" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=38069091&dopt=Abstract"> PubMed </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Journal subject: Scopus - Inorganic Chemistry&nbsp;&nbsp;&nbsp;Rank:&nbsp;D1</div> <div class="journal-subject">Journal subject: Scopus - Organic Chemistry&nbsp;&nbsp;&nbsp;Rank:&nbsp;D1</div> <div class="journal-subject">Journal subject: Scopus - Spectroscopy&nbsp;&nbsp;&nbsp;Rank:&nbsp;D1</div> <div class="journal-subject">Journal subject: Scopus - Computer Science Applications&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q1</div> <div class="journal-subject">Journal subject: Scopus - Medicine (miscellaneous)&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q1</div> <div class="journal-subject">Journal subject: Scopus - Physical and Theoretical Chemistry&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q1</div> <div class="journal-subject">Journal subject: Scopus - Catalysis&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q2</div> <div class="journal-subject">Journal subject: Scopus - Molecular Biology&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q2</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="" class="citingPub-count">Citing papers: 31</span> | Independent citation: 30 | Self citation: 1 | Unknown citation: 0 | Number of citations in WoS: 24 | Number of citations in Scopus:&nbsp;24 | WoS/Scopus assigned:&nbsp;31 | Number of citations with DOI:&nbsp;30 </div> <div class="mtid"><span class="long-pub-mtid">Publication: 34430014</span> | <span class="status-data status-VALIDATED"> Validated </span> Core | <span class="type-subtype">Journal Article ( Survey paper ) </span> | <span class="pub-category">Scientific</span> | <span class="publication-sourceOfData">kézi felvitel</span> </div> <div class="lastModified">Last Modified: 2024.01.18. 11:50 Kinga Sonnevend (SE_AOK_OrvVegytan_Admin5_SK, admin) </div> </div></div>