{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T09:46:37Z","timestamp":1785836797798,"version":"3.56.0"},"reference-count":22,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2026,4,12]],"date-time":"2026-04-12T00:00:00Z","timestamp":1775952000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,4,12]],"date-time":"2026-04-12T00:00:00Z","timestamp":1775952000000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    WAGR spectrum disorder (WAGRSD) is an ultra\u2010rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends well beyond this tetrad. To improve diagnostic resolution, we developed and validated a high\u2010density custom CGH\u2013SNP array for precise breakpoint mapping of 11p13. We present a molecularly confirmed cohort of 23 new patients and integrate these with 91 published cases, forming the largest combined cohort to date (\n                    <jats:italic>N<\/jats:italic>\n                    \u2009=\u2009114) with detailed genotype\u2013phenotype information. Key findings include: (1) the custom array provided superior genomic resolution compared to standard clinical arrays; (2) seven patients (6.1%) were found to have a dual diagnosis of WAGRSD and Potocki\u2010Shaffer syndrome (PSS)\u2014a contiguous\u2010gene syndrome characterized by multiple osteochondromas that requires distinct surveillance; (3) in 42 patients with fully defined deletions (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u200942, 38% of the cohort), no statistically significant association was observed between deletion of\n                    <jats:italic>LMO2<\/jats:italic>\n                    (or other candidate genes) and Wilms tumor risk; and (4) phenotypic frequencies in this medically validated cohort closely aligned with prior caregiver\u2010reported registry data, validating patient\u2010driven registries as a reliable resource for rare disease research. Together, these findings underscore the necessity of high\u2010resolution genomic testing to guide counseling, refine anticipatory management\u2014including screening for PSS\u2010related complications\u2014and expand the phenotypic understanding of 11p13 deletion disorders.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70159","type":"journal-article","created":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T05:19:47Z","timestamp":1776057587000},"page":"1989-1999","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["High\u2010Resolution Genomic Characterization of\n                    <scp>WAGR<\/scp>\n                    Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient\u2010Reported Data"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6661-3924","authenticated-orcid":false,"given":"Andrew M.","family":"George","sequence":"first","affiliation":[{"name":"Division of Genetic and Genomic Medicine The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bamelak T.","family":"Duki","sequence":"additional","affiliation":[{"name":"Division of Genetic and Genomic Medicine The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zoe S.","family":"Katz","sequence":"additional","affiliation":[{"name":"Division of Genetic and Genomic Medicine The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-8127-3419","authenticated-orcid":false,"given":"Aravind","family":"Viswanathan","sequence":"additional","affiliation":[{"name":"Division of Genetic and Genomic Medicine The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5894-6403","authenticated-orcid":false,"given":"Suzanne P.","family":"MacFarland","sequence":"additional","affiliation":[{"name":"Division of Oncology The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Department of Pediatrics Perelman School of Medicine  Philadelphia Pennsylvania USA"},{"name":"Center for Childhood Cancer Research Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evan R.","family":"Hathaway","sequence":"additional","affiliation":[{"name":"Division of Genetic and Genomic Medicine The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caitlin","family":"Monahan","sequence":"additional","affiliation":[{"name":"Department of Genetics Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Morris","sequence":"additional","affiliation":[{"name":"International WAGR Syndrome Association  Montgomery Village Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelly L.","family":"Trout","sequence":"additional","affiliation":[{"name":"International WAGR Syndrome Association  Montgomery Village Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shari M.","family":"Krantz","sequence":"additional","affiliation":[{"name":"International WAGR Syndrome Association  Montgomery Village Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arupa","family":"Ganguly","sequence":"additional","affiliation":[{"name":"Department of Genetics Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania 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