{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T19:40:42Z","timestamp":1790278842937,"version":"4.1.0"},"reference-count":69,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,1,22]],"date-time":"2024-01-22T00:00:00Z","timestamp":1705881600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005689","name":"G\u00f6teborgs L\u00e4kares\u00e4llskap","doi-asserted-by":"publisher","award":["GLS-973761"],"award-info":[{"award-number":["GLS-973761"]}],"id":[{"id":"10.13039\/501100005689","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>\n                    <jats:bold>Background:<\/jats:bold>\n                    This study assessed the diagnostic yield of high-throughput sequencing methods in a cohort of craniosynostosis (CS) patients not presenting causal variants identified through previous targeted analysis.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Methods:<\/jats:bold>\n                    Whole-genome or whole-exome sequencing (WGS\/WES) was performed in a cohort of 59 patients (from 57 families) assessed by retrospective phenotyping as having syndromic or nonsyndromic CS.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Results:<\/jats:bold>\n                    A syndromic form was identified in 51% of the unrelated cases. A genetic cause was identified in 38% of syndromic cases, with novel variants detected in\n                    <jats:italic>FGFR2<\/jats:italic>\n                    (a rare Alu insertion),\n                    <jats:italic>TWIST1, TCF12, KIAA0586, HDAC9, FOXP1<\/jats:italic>\n                    , and\n                    <jats:italic>NSD2<\/jats:italic>\n                    . Additionally, we report two patients with rare recurrent variants in\n                    <jats:italic>KAT6A<\/jats:italic>\n                    and\n                    <jats:italic>YY1<\/jats:italic>\n                    as well as two patients with structural genomic aberrations: one with a 22q13 duplication and one with a complex rearrangement involving chromosome 2 (2p25 duplication including\n                    <jats:italic>SOX11<\/jats:italic>\n                    and deletion of 2q22). Moreover, we identified potentially relevant variants in 87% of the remaining families with no previously detected causal variants, including novel variants in\n                    <jats:italic>ADAMTSL4, ASH1L, ATRX, C2CD3, CHD5, ERF, H4C5, IFT122, IFT140, KDM6B, KMT2D, LTBP1, MAP3K7, NOTCH2, NSD1, SOS1, SPRY1, POLR2A, PRRX1, RECQL4, TAB2, TAOK1, TET3, TGFBR1, TCF20<\/jats:italic>\n                    , and\n                    <jats:italic>ZBTB20<\/jats:italic>\n                    .\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Conclusion:<\/jats:bold>\n                    These results confirm WGS\/WES as a powerful diagnostic tool capable of either targeted\n                    <jats:italic>in silico<\/jats:italic>\n                    or broad genomic analysis depending on phenotypic presentation (e.g., classical or unusual forms of syndromic CS).\n                  <\/jats:p>","DOI":"10.3389\/fgene.2023.1322462","type":"journal-article","created":{"date-parts":[[2024,1,22]],"date-time":"2024-01-22T05:55:51Z","timestamp":1705902951000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":12,"title":["The value of genome-wide analysis in craniosynostosis"],"prefix":"10.3389","volume":"14","author":[{"given":"Alexandra","family":"Topa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Rohlin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9","family":"Fehr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lovisa","family":"Lovmar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00f6ran","family":"Stenman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Tarnow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Maltese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madiha","family":"Bhatti-S\u00f8fteland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lars","family":"K\u00f6lby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2024,1,22]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1016\/j.ajhg.2015.06.003","article-title":"Mutations in KIAA0586 cause lethal ciliopathies ranging from a hydrolethalus phenotype to short-rib polydactyly syndrome","volume":"97","author":"Alby","year":"2015","journal-title":"Am. 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