{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T20:16:33Z","timestamp":1792700193690,"version":"4.5.0"},"reference-count":53,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T00:00:00Z","timestamp":1789430400000},"content-version":"vor","delay-in-days":14,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100011858","name":"African Academy of Sciences","doi-asserted-by":"publisher","award":["ARISE\u2010PP\u201040"],"award-info":[{"award-number":["ARISE\u2010PP\u201040"]}],"id":[{"id":"10.13039\/501100011858","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Autism spectrum disorder (ASD) is a neurodevelopmental condition with substantial genetic and phenotypic heterogeneity. However, populations of African ancestry remain underrepresented in genomic studies, limiting understanding of ASD genetic architecture. This study aimed to characterize rare, clinically relevant genetic variants in a Rwandan pediatric ASD cohort using trio\u2010based whole\u2010exome sequencing (WES).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Trio\u2010based WES was performed in 31 Rwandan pediatric patients with ASD (aged 2\u201318\u2009years) and their parents. Variants were analyzed using a trio\u2010based workflow and classified according to American College of Medical Genetics and Genomics\/Association for Molecular Pathology (ACMG\/AMP) guidelines.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Eleven candidate variants were identified in 9 of 31 patients, including four likely pathogenic variants and seven variants of uncertain significance. This resulted in a diagnostic yield of 12.9% (4\/31), expanded to 29.0% when phenotypically concordant variants of uncertain significance were considered. Most likely pathogenic variants were identified in individuals with syndromic ASD who presented with intellectual disability, epilepsy, and global developmental delay. Likely pathogenic findings included two single nucleotide variants in\n                      <jats:italic>GABRB3<\/jats:italic>\n                      ,\n                      <jats:italic>SYNGAP1<\/jats:italic>\n                      , and two copy\u2010number variants involving the\n                      <jats:italic>GNAS<\/jats:italic>\n                      locus and chromosome 1p35.3\u2010p35.2.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The diagnostic yield observed in this cohort is consistent with previous trio\u2010based WES studies of ASD. The findings support the clinical utility of WES for the genetic evaluation of ASD and underscore the need for expanded genomic studies in African populations.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70294","type":"journal-article","created":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T13:47:20Z","timestamp":1789480040000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Clinical Utility of Trio Exome Sequencing in Rwandan Children With Autism Spectrum Disorder"],"prefix":"10.1002","volume":"14","author":[{"given":"Olivier","family":"Hakizimana","sequence":"first","affiliation":[{"name":"Postgraduate Studies, School of Health Sciences, College of Medicine and Health Sciences University of Rwanda  Kigali Rwanda"},{"name":"Department of Biochemistry, Molecular Biology and Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences University of Rwanda  Kigali 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