{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:21Z","timestamp":1772160081225,"version":"3.50.1"},"reference-count":5,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2025,1,18]],"date-time":"2025-01-18T00:00:00Z","timestamp":1737158400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003042","name":"Else Kr\u00f6ner-Fresenius-Stiftung","doi-asserted-by":"publisher","award":["2022_EKEA.55"],"award-info":[{"award-number":["2022_EKEA.55"]}],"id":[{"id":"10.13039\/501100003042","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["SP1532\/3\u20101"],"award-info":[{"award-number":["SP1532\/3\u20101"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["SP1532\/4\u20101"],"award-info":[{"award-number":["SP1532\/4\u20101"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["SP1532\/5\u20101"],"award-info":[{"award-number":["SP1532\/5\u20101"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005156","name":"Alexander von Humboldt-Stiftung","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005156","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Split\u2010hand\/foot malformation syndrome (SHFM) is a congenital limb malformation that is both clinically and genetically heterogeneous. Variants in\n                    <jats:italic>WNT10B<\/jats:italic>\n                    are known to cause an autosomal recessive form of SHFM. Here, we report a patient born to unrelated parents who was found to be a compound heterozygote for missense variants in\n                    <jats:italic>WNT10B<\/jats:italic>\n                    : c.994C&gt;T, p.(Arg332Trp) and c.638T&gt;G, p.(Phe213Cys). The variants were identified using long\u2010read PacBio sequencing, which enabled phasing and confirmed that they were located on different alleles. The maternally inherited variant p.(Arg332Trp) has been previously reported, whereas the paternally inherited variant p.(Phe213Cys) is novel and absent from the gnomAD database. Our findings highlight the utility of long\u2010read haplotype phasing, which provides valuable insights in determining the biallelic nature of variants in recessive disorders when parental DNA samples are unavailable.\n                  <\/jats:p>","DOI":"10.1111\/cge.14706","type":"journal-article","created":{"date-parts":[[2025,1,18]],"date-time":"2025-01-18T06:50:08Z","timestamp":1737183008000},"page":"582-584","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Haplotype Phasing of Biallelic\n                    <scp>\n                      <i>WNT10B<\/i>\n                    <\/scp>\n                    Variants Using Long\u2010Read Sequencing in Split\u2010Hand\/Foot Malformation Syndrome"],"prefix":"10.1111","volume":"107","author":[{"given":"Jelena","family":"Pozojevic","sequence":"first","affiliation":[{"name":"Institute of Human Genetics, University Medical Center Schleswig\u2010Holstein University of L\u00fcbeck &amp; Kiel University  L\u00fcbeck Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naseebullah","family":"Kakar","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Medical Center Schleswig\u2010Holstein University of L\u00fcbeck &amp; Kiel University  L\u00fcbeck Germany"},{"name":"Department of Biotechnology FLS&amp;I, BUITEMS  Quetta Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henrike L.","family":"Sczakiel","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Human Genetics, Charit\u00e9\u2010Universit\u00e4tsmedizin Berlin, Corporate Member of Freie Universit\u00e4t Berlin and Humboldt\u2010Universit\u00e4t Zu Berlin  Berlin Germany"},{"name":"BIH Biomedical Innovation Academy, Berlin Institute of Health at Charit\u00e9\u2010Universit\u00e4tsmedizin Berlin  Berlin Germany"},{"name":"RG Development and Disease Max Planck Institute for Molecular Genetics  Berlin Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathalie","family":"Kruse","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Medical Center Schleswig\u2010Holstein University of L\u00fcbeck &amp; Kiel University  L\u00fcbeck Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristian","family":"H\u00e4ndler","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Medical Center Schleswig\u2010Holstein University of L\u00fcbeck &amp; Kiel University  L\u00fcbeck Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saranya","family":"Balachandran","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Medical Center Schleswig\u2010Holstein University of L\u00fcbeck &amp; Kiel University  L\u00fcbeck Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Varun","family":"Sreenivasan","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Medical Center Schleswig\u2010Holstein University of L\u00fcbeck &amp; Kiel University  L\u00fcbeck Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8080-8779","authenticated-orcid":false,"given":"Martin A.","family":"Mensah","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Human Genetics, Charit\u00e9\u2010Universit\u00e4tsmedizin Berlin, Corporate Member of Freie Universit\u00e4t Berlin and Humboldt\u2010Universit\u00e4t Zu Berlin  Berlin Germany"},{"name":"BIH Biomedical Innovation Academy, Berlin Institute of Health at Charit\u00e9\u2010Universit\u00e4tsmedizin Berlin  Berlin Germany"},{"name":"RG Development and Disease Max Planck Institute for Molecular Genetics  Berlin Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Malte","family":"Spielmann","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Medical Center Schleswig\u2010Holstein University of L\u00fcbeck &amp; Kiel University  L\u00fcbeck Germany"},{"name":"DZHK (German Centre for Cardiovascular Research), partner Site Hamburg\/L\u00fcbeck\/Kiel  L\u00fcbeck Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,1,18]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000502784"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn164"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.05.012"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-021-03819-2"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14706","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T01:27:12Z","timestamp":1760405232000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14706"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,18]]},"references-count":5,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2025,5]]}},"alternative-id":["10.1111\/cge.14706"],"URL":"https:\/\/doi.org\/10.1111\/cge.14706","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14706\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14706\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14706\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14706\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14706\/v1\/decision1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,18]]},"assertion":[{"value":"2024-11-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-01-09","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-01-18","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}