{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T11:56:20Z","timestamp":1790682980831,"version":"4.1.0"},"reference-count":118,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2021,6,4]],"date-time":"2021-06-04T00:00:00Z","timestamp":1622764800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["DI 2170\/3\u20101"],"award-info":[{"award-number":["DI 2170\/3\u20101"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cyclin D2 (CCND2) is a critical cell cycle regulator and key member of the cyclin D2\u2010CDK4 (DC) complex. De novo variants of <jats:italic>CCND2<\/jats:italic> clustering in the distal part of the protein have been identified as pathogenic causes of brain overgrowth (megalencephaly, MEG) and severe cortical malformations in children including the megalencephaly\u2010polymicrogyria\u2010polydactyly\u2010hydrocephalus (MPPH) syndrome. Megalencephaly\u2010associated <jats:italic>CCND2<\/jats:italic> variants are localized to the terminal exon and result in accumulation of degradation\u2010resistant protein. We identified five individuals from three unrelated families with novel variants in the proximal region of <jats:italic>CCND2<\/jats:italic> associated with microcephaly, mildly simplified cortical gyral pattern, symmetric short stature, and mild developmental delay. Identified variants include de novo frameshift variants and a dominantly inherited stop\u2010gain variant segregating with the phenotype. This is the first reported association between proximal <jats:italic>CCND2<\/jats:italic> variants and microcephaly, to our knowledge. This series expands the phenotypic spectrum of <jats:italic>CCND2<\/jats:italic>\u2010related disorders and suggests that distinct classes of <jats:italic>CCND2<\/jats:italic> variants are associated with reciprocal effects on human brain growth (microcephaly and megalencephaly due to possible loss or gain of protein function, respectively), adding to the growing paradigm of inverse phenotypes due to dysregulation of key brain growth genes.<\/jats:p>","DOI":"10.1002\/ajmg.a.62362","type":"journal-article","created":{"date-parts":[[2021,6,4]],"date-time":"2021-06-04T16:28:27Z","timestamp":1622824107000},"page":"2719-2738","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["Proximal variants in <scp><i>CCND2<\/i><\/scp> associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7603-662X","authenticated-orcid":false,"given":"Filomena","family":"Pirozzi","sequence":"first","affiliation":[{"name":"Center for Integrative Brain Research Seattle Children's Research Institute  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benson","family":"Lee","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Medicine Veterans Affairs Greater Los Angeles Healthcare System  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Horsley","sequence":"additional","affiliation":[{"name":"Center for Integrative Brain Research Seattle Children's Research Institute  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1743-7503","authenticated-orcid":false,"given":"Deepika D.","family":"Burkardt","sequence":"additional","affiliation":[{"name":"National Human Genome Research Institute National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7681-2844","authenticated-orcid":false,"given":"William B.","family":"Dobyns","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Pediatrics University of Minnesota  Minneapolis Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4297-1078","authenticated-orcid":false,"suffix":"Jr","given":"John M.","family":"Graham","sequence":"additional","affiliation":[{"name":"Medical Genetics Institute Cedars\u2010Sinai Medical Center, David Geffen School of Medicine at UCLA  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9505-5906","authenticated-orcid":false,"given":"Maria L.","family":"Dentici","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Academic Department of Pediatrics Bambino Ges\u00f9 Children's Hospital, IRCSS  Rome Italy"},{"name":"Genetics and Rare Diseases Research Division Bambino Ges\u00f9 Children's Hospital, IRCSS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Cesario","sequence":"additional","affiliation":[{"name":"Translational Cytogenomics Research Unit Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jens","family":"Schallner","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics School of Medicine, Carl Gustav Carus, TU Dresden  Dresden Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Porrmann","sequence":"additional","affiliation":[{"name":"Institute for Clinical Genetics University Hospital, TU Dresden  Dresden Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9439-4677","authenticated-orcid":false,"given":"Nataliya","family":"Di Donato","sequence":"additional","affiliation":[{"name":"Institute for Clinical Genetics University Hospital, TU Dresden  Dresden Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1181-7828","authenticated-orcid":false,"given":"Pedro A.","family":"Sanchez\u2010Lara","sequence":"additional","affiliation":[{"name":"Medical Genetics Institute Cedars\u2010Sinai Medical Center, David Geffen School of Medicine at UCLA  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2648-7657","authenticated-orcid":false,"given":"Ghayda M.","family":"Mirzaa","sequence":"additional","affiliation":[{"name":"Center for Integrative Brain Research Seattle Children's Research Institute  Seattle Washington USA"},{"name":"Division of Medical Genetics, Department of Pediatrics University of Washington  Seattle Washington USA"},{"name":"Brotman\u2010Baty Institute for Precision Medicine  Seattle Washington USA"},{"name":"Institute for Stem Cell and Regenerative Medicine University of Washington  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,6,4]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awx203"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12782"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.12.008"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature15393"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33637"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcp.21967"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/18.19.5321"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31757"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.04.004"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1076997"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.708"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.07.003"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms10207"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.03.008"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36521"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2016.51"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22946"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/35096075"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12476"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccell.2016.09.005"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.915"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0032715"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36046"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31736"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.25.5.1869-1878.2005"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad928101"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1039\/C5MB00101C"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1074\/mcp.M113.035600"},{"key":"e_1_2_9_30_1","unstructured":"Firth H. V. Richards S. M. Bevan A. P. Clayton S. Corpas M. Rajan D. vanVooren S. Moreau Y. Pettett R. M. &Carter N. P.(2009).DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources.https:\/\/doi.org\/10\/1016\/j.ajhg.2009.03.010"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.164"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36710"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/382511a0"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1111\/gbb.12130"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.11.018"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.008524"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440309"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cellsig.2011.07.003"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1002\/pro.2912"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijdevneu.2012.11.006"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2013.06.049"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3321"},{"key":"e_1_2_9_43_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-014-2589-y"},{"key":"e_1_2_9_44_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.32427"},{"key":"e_1_2_9_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0065-230X(08)60353-X"},{"key":"e_1_2_9_46_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31619"},{"key":"e_1_2_9_47_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbior.2017.06.003"},{"key":"e_1_2_9_48_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cellsig.2011.05.004"},{"key":"e_1_2_9_49_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00595-019-01790-0"},{"key":"e_1_2_9_50_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2020.11.003"},{"key":"e_1_2_9_51_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.126.9.1927"},{"key":"e_1_2_9_52_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms19103096"},{"key":"e_1_2_9_53_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.RA118.002356"},{"key":"e_1_2_9_54_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1314432"},{"key":"e_1_2_9_55_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv045"},{"key":"e_1_2_9_56_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep32172"},{"key":"e_1_2_9_57_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"e_1_2_9_58_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2018-105487"},{"key":"e_1_2_9_59_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2892"},{"key":"e_1_2_9_60_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1021202"},{"key":"e_1_2_9_61_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0128285"},{"key":"e_1_2_9_62_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng863"},{"key":"e_1_2_9_63_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2006.03.023"},{"key":"e_1_2_9_64_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2132711100"},{"key":"e_1_2_9_65_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng781"},{"key":"e_1_2_9_66_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2329"},{"key":"e_1_2_9_67_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"e_1_2_9_68_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(01)00275-1"},{"key":"e_1_2_9_69_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-016-0278-0"},{"issue":"6","key":"e_1_2_9_70_1","first-page":"850","article-title":"Akt3 is responsible for the survival and proliferation of embryonic stem cells","volume":"6","author":"Ling Wang D. H.","year":"2017","journal-title":"Biol Open"},{"key":"e_1_2_9_71_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2019.00058"},{"key":"e_1_2_9_72_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1002653107"},{"key":"e_1_2_9_73_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2017-01948"},{"key":"e_1_2_9_74_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-018-0371-7"},{"key":"e_1_2_9_75_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20750"},{"key":"e_1_2_9_76_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.3.507"},{"key":"e_1_2_9_77_1","doi-asserted-by":"publisher","DOI":"10.1038\/mp.2014.189"},{"key":"e_1_2_9_78_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36516"},{"key":"e_1_2_9_79_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.14908"},{"key":"e_1_2_9_80_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00335-012-9416-0"},{"key":"e_1_2_9_81_1","unstructured":"Mirzaa G. M. (1993). MPPH syndrome. In MP Adams HH Ardinger RA Pagon SE Wallace LJH Bean GM Mirzaa & A Anemiya (Eds.) GeneReviews\u00ae. Seattle (WA): University of Washington Seattle."},{"key":"e_1_2_9_82_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2948"},{"key":"e_1_2_9_83_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0215(200102)9999:9999<::AID-IJC1171>3.0.CO;2-R"},{"key":"e_1_2_9_84_1","doi-asserted-by":"publisher","DOI":"10.1093\/neuonc\/nop026"},{"key":"e_1_2_9_85_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61037"},{"key":"e_1_2_9_86_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12188"},{"key":"e_1_2_9_87_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-016-0363-6"},{"key":"e_1_2_9_88_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2014.11.018"},{"key":"e_1_2_9_89_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2018-105471"},{"key":"e_1_2_9_90_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01074.x"},{"key":"e_1_2_9_91_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccr.2008.12.005"},{"key":"e_1_2_9_92_1","doi-asserted-by":"publisher","DOI":"10.1037\/bne0000292"},{"key":"e_1_2_9_93_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2012.03.010"},{"key":"e_1_2_9_94_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2331"},{"key":"e_1_2_9_95_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.16-01-00210.1996"},{"key":"e_1_2_9_96_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1470-2045(13)70045-7"},{"key":"e_1_2_9_97_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12803"},{"key":"e_1_2_9_98_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"e_1_2_9_99_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33997"},{"key":"e_1_2_9_100_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/29.1.308"},{"key":"e_1_2_9_101_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2020.144816"},{"key":"e_1_2_9_102_1","doi-asserted-by":"publisher","DOI":"10.1038\/384470a0"},{"key":"e_1_2_9_103_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22844"},{"key":"e_1_2_9_104_1","doi-asserted-by":"publisher","DOI":"10.1086\/432082"},{"key":"e_1_2_9_105_1","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.385"},{"key":"e_1_2_9_106_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36229"},{"key":"e_1_2_9_107_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31362"},{"key":"e_1_2_9_108_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm.4180"},{"key":"e_1_2_9_109_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21395"},{"key":"e_1_2_9_110_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31818fd762"},{"key":"e_1_2_9_111_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35999"},{"key":"e_1_2_9_112_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31946"},{"key":"e_1_2_9_113_1","doi-asserted-by":"publisher","DOI":"10.1247\/csf.08019"},{"key":"e_1_2_9_114_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(92)90127-E"},{"key":"e_1_2_9_115_1","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.10709"},{"key":"e_1_2_9_116_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.25.23.10407-10418.2005"},{"key":"e_1_2_9_117_1","unstructured":"Nature Medicine 21 Whole\u2010genome sequencing of quartet families with autism spectrum disorder"},{"key":"e_1_2_9_118_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33769"},{"key":"e_1_2_9_119_1","doi-asserted-by":"publisher","DOI":"10.1086\/377109"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62362","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62362","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62362","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T02:56:21Z","timestamp":1693277781000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62362"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,4]]},"references-count":118,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2021,9]]}},"alternative-id":["10.1002\/ajmg.a.62362"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62362","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,6,4]]},"assertion":[{"value":"2021-04-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-05-04","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-06-04","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}