{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,20]],"date-time":"2026-04-20T01:36:33Z","timestamp":1776648993361,"version":"3.51.2"},"reference-count":128,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T00:00:00Z","timestamp":1760227200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T00:00:00Z","timestamp":1760227200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper airway obstruction, often occurring with cleft palate and syndromic conditions. The genetic basis of RS is heterogeneous, including monogenic variants and chromosomal rearrangements. This systematic review synthesizes the current genetic landscape of RS, analyzing data from 107 studies that employed various genetic testing methods, including chromosomal microarray (CMA), targeted sequencing, and whole exome sequencing (WES). A distinction is made between genetic variants identified in isolated versus non\u2010isolated RS. Pathogenic variants in genes as\n                    <jats:italic>SOX9<\/jats:italic>\n                    ,\n                    <jats:italic>SNRPB<\/jats:italic>\n                    ,\n                    <jats:italic>SATB2<\/jats:italic>\n                    ,\n                    <jats:italic>TGDS<\/jats:italic>\n                    ,\n                    <jats:italic>RBM10<\/jats:italic>\n                    ,\n                    <jats:italic>COL11A1<\/jats:italic>\n                    , and\n                    <jats:italic>COL2A1<\/jats:italic>\n                    are frequently identified, many of which are linked to non\u2010isolated RS. The most common chromosomal aberrations are deletions of 22q11.2 and 18q. Up\u2010to\u2010date genetic testing is essential to enable accurate diagnosis and personalized clinical care. With the growing use of whole genome sequencing (WGS) in clinical practice, the need for phenotype\u2010driven interpretation tools is increasing. Some platforms can prioritize gene relevance based on Human Phenotype Ontology (HPO) terms. Documenting both known and novel RS\u2010associated genes is therefore crucial to fully realize the diagnostic potential of WGS and support evidence\u2010based clinical decision\u2010making.\n                  <\/jats:p>","DOI":"10.1111\/cge.70088","type":"journal-article","created":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T05:50:39Z","timestamp":1760334639000},"page":"218-232","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Genetic Landscape of Robin Sequence: A Systematic Review"],"prefix":"10.1111","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-2613-6887","authenticated-orcid":false,"given":"Shirley","family":"van de Velde","sequence":"first","affiliation":[{"name":"Department of Pediatric Plastic and Reconstructive Surgery University Medical Center Utrecht, Wilhelmina Children's Hospital  Utrecht the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aebele B.","family":"Mink van der Molen","sequence":"additional","affiliation":[{"name":"Department of Pediatric Plastic and Reconstructive Surgery University Medical Center Utrecht, Wilhelmina Children's Hospital  Utrecht the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Augusta M. 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