Genetics in Medicine Open最新文献

{"title":"P021: Withdrawn","authors":"","doi":"10.1016/j.gimo.2026.103512","DOIUrl":"10.1016/j.gimo.2026.103512","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"4 ","pages":"Article 103512"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147395219","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P005: Myelin lipid composition in adrenoleukodystrophy*","authors":"Nadav Weinstock , Ann Moser , Gerald Raymond , Christina Nemeth Mertz , Ali Fatemi","doi":"10.1016/j.gimo.2026.103496","DOIUrl":"10.1016/j.gimo.2026.103496","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"4 ","pages":"Article 103496"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147395375","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P051: Clinical and biochemical characterization of a patient with lysinuric protein intolerance: A rare disorder of amino acid transport","authors":"Elvis Acquah , Sarah Roberts , Sierra Pond , Lorenzo Botto , Judith Hobert","doi":"10.1016/j.gimo.2026.103542","DOIUrl":"10.1016/j.gimo.2026.103542","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"4 ","pages":"Article 103542"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147396313","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"O10: Evaluating the role of mitochondrial dysfunction in muscle cell differentiation in an iPSC-derived skeletal muscle model of Barth syndrome","authors":"Valeria Silva , Olivia Sniezek-Carney , Kyuna Lee , Kathryn Chatfield , Genevieve Sparagna , Anne Hamacher-Brady , Hilary Vernon","doi":"10.1016/j.gimo.2026.104295","DOIUrl":"10.1016/j.gimo.2026.104295","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"4 ","pages":"Article 104295"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147396414","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P039: Mucopolysaccharidoses: A case series of five pediatric cardiology patients in Marrakech, Morocco","authors":"Kristina Woodis , Lucas Heilbroner , Drissi Boumzebra , Nadia El Idrissi Slitine , Christina Yang , Xinyang Liu , Faisal Al Munajjed , Ichrak Rajil , Craig Sable , Marius Linguraru , Christina Grant","doi":"10.1016/j.gimo.2026.103530","DOIUrl":"10.1016/j.gimo.2026.103530","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"4 ","pages":"Article 103530"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147396421","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P058: Three-year use of risk-reducing interventions among cancer-free women with germline pathogenic variants in breast cancer predisposition genes*","authors":"Emily Russell , Sarah Nielsen Young , Rachel Ellsworth , Heidi Ko , Rebecca Previs , Erica Vaccari , Daniel Pineda-Alvarez , Edward Esplin , Kevin Hughes , Stacy Gray , Nadine Tung , Allison Kurian","doi":"10.1016/j.gimo.2026.103549","DOIUrl":"10.1016/j.gimo.2026.103549","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"4 ","pages":"Article 103549"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147396596","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P010: At-home ammonia breath test for monitoring patients with a urea cycle disorder","authors":"Robert Latour","doi":"10.1016/j.gimo.2026.103501","DOIUrl":"10.1016/j.gimo.2026.103501","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"4 ","pages":"Article 103501"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147396563","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"DDX23 gain-of-function linked to autism spectrum disorder with intellectual disability, motor delay, and seizure","authors":"Ranjan K. Sahu,&nbsp;Lynne M. Bird,&nbsp;Alexa R. Geltzeiler,&nbsp;Pradeep Vasudevan,&nbsp;Marcelo Vargas,&nbsp;Beau Crabb,&nbsp;Jessica Ruedy,&nbsp;Wendy K. Chung,&nbsp;Hyung-lok Chung","doi":"10.1016/j.gimo.2026.104484","DOIUrl":"10.1016/j.gimo.2026.104484","url":null,"abstract":"<div><h3>Purpose</h3><div>DDX23, a member of the DEAD-box RNA helicase superfamily, is crucial for RNA processing and translation initiation during gametogenesis and cell division. This study aims to determine the disease-causing potential and clinical relevance of rare de novo <em>DDX23</em> missense variants identified in individuals with neurodevelopmental and cardiopulmonary anomalies.</div></div><div><h3>Methods</h3><div>Clinical and genetic analyses were performed on 3 individuals presenting with developmental delay or intellectual disability, facial dysmorphisms, brain structural abnormalities, and cardiopulmonary defects. Exome sequencing identified rare de novo monoallelic missense variants at p.Arg528–p.(Arg528Cys), p.(Arg528His), or p.(Arg528Gln)–in <em>DDX23</em>. In silico prediction tools were used to assess the potential functional impact of these variants. To test their disease-causing role in vivo, wild-type and two mutant <em>DDX23</em> alleles, p.(Arg528Cys) and p.(Arg528His), were expressed ubiquitously or in a tissue-specific manner in a humanized <em>Drosophila</em> model.</div></div><div><h3>Results</h3><div>All 3 individuals carried a de novo missense variants at p.Arg528–p.(Arg528Cys), p.(Arg528His), or p.(Arg528Gln)–all predicted in silico to be deleterious, with dominant effects. Expression of the p.(Arg528Cys) and p.(Arg528His) alleles in <em>Drosophila</em> resulted in severely compromised development and survival, with either ubiquitous or tissue-specific expression leading to a complete loss of progeny. These findings demonstrate a robust functional impact of the variants consistent with a gain-of-function mechanism.</div></div><div><h3>Conclusion</h3><div>Our study identifies recurrent de novo missense variants in DDX23 as the genetic cause of a neurodevelopmental syndrome. Functional assays in <em>Drosophila</em> confirm the disease-causing potential of these variants and support a gain-of-function mechanism for the p.(Arg528Cys) and p.(Arg528His) alleles.</div></div>","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"4 ","pages":"Article 104484"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148770128","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessment of local provider engagement of an in-home collaborative model for remote genetic services","authors":"Daniel Chavez-Yenter,&nbsp;Kevin Oeffinger,&nbsp;Brian Egleston,&nbsp;Elisabeth McCarty Wood,&nbsp;Sarah Howe,&nbsp;Sarah Brown,&nbsp;Janice Christiansen,&nbsp;Cara Cacioppo,&nbsp;Michelle Weinberg,&nbsp;Elena Elkin,&nbsp;Linda Fleisher,&nbsp;Rajia Mim,&nbsp;Santina Hernandez,&nbsp;Demetrios Ofidis,&nbsp;Dominique Fetzer,&nbsp;Tara O. Henderson,&nbsp;Angela Bradbury","doi":"10.1016/j.gimo.2026.104486","DOIUrl":"10.1016/j.gimo.2026.104486","url":null,"abstract":"<div><h3>Purpose</h3><div>Clinical genetic testing demand has increased in the era of precision medicine. However, the availability of cancer genetic services remains limited in the United States, prompting a rise in telehealth delivery. Through our Telegenetics program, we seek to promote genetic service delivery across the United States, and here, we assess engagement through registrations with local providers using a service delivery model.</div></div><div><h3>Methods</h3><div>This report describes the Penn Telegenetics Program experience across 4 research and clinical activities using an in-home collaborative local provider model. We report the clinical procedures and our initial experience implementing this model across these 4 research and clinical activities in the Penn Telegenetics Program. We present descriptive findings of the registrations and, in cases of refusals, the rationale provided.</div></div><div><h3>Results</h3><div>From 2018 to 2025, 473 providers (89.4%) successfully registered. Providers were predominantly MD/DO licensed (85.0%). Family medicine was the most frequent specialty (54.3%), followed by internal medicine (20.9%) and clinical oncology (11.8%). Most providers were in suburban locations by zip codes (56.2%); 20.1% were in rural zip codes. Only 56 providers declined collaboration (10.6%); the most common reasons reported were preferring local genetic services (22.5%) and not being comfortable as the ordering provider (22.5%).</div></div><div><h3>Conclusion</h3><div>Our data demonstrate that most local providers are willing to collaborate with a centralized telegenetics program. Still, subsequent engagement from local providers in follow-up questions or other referrals remains a missed opportunity to improve telegenetics access. Refining procedures to increase collaborative care and engagement may provide opportunities to increase access to cancer genetic testing.</div></div>","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"4 ","pages":"Article 104486"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13553557/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148922396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P048: Acute neonatal presentations of hereditary fructose intolerance on sensitive infant formulas","authors":"Victor Wang ,&nbsp;Mara Black ,&nbsp;Callie Ferguson ,&nbsp;Tao Wang","doi":"10.1016/j.gimo.2026.103539","DOIUrl":"10.1016/j.gimo.2026.103539","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"4 ","pages":"Article 103539"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147394112","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}