{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T08:41:21Z","timestamp":1787992881802,"version":"build-2784847793"},"reference-count":45,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,6,3]],"date-time":"2025-06-03T00:00:00Z","timestamp":1748908800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000272","name":"National Institute for Health and Care Research","doi-asserted-by":"publisher","award":["MR\/W01761X\/1"],"award-info":[{"award-number":["MR\/W01761X\/1"]}],"id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100019434","name":"NIHR Exeter Clinical Research Facility","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100019434","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"UK Research and Innovation Medical Research Council","doi-asserted-by":"publisher","award":["103356"],"award-info":[{"award-number":["103356"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"UK Research and Innovation Medical Research Council","doi-asserted-by":"publisher","award":["MR\/W01761X\/1"],"award-info":[{"award-number":["MR\/W01761X\/1"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100014653","name":"NIHR Manchester Biomedical Research Centre","doi-asserted-by":"publisher","award":["NIHR203308"],"award-info":[{"award-number":["NIHR203308"]}],"id":[{"id":"10.13039\/100014653","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012360","name":"Heart of England NHS Foundation Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012360","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000289","name":"Cancer Research UK","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000289","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000276","name":"Department of Health and Social Care","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000276","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100013373","name":"NIHR Oxford Biomedical Research Centre","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100013373","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["gimjournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genetics in Medicine"],"published-print":{"date-parts":[[2025,9]]},"DOI":"10.1016\/j.gim.2025.101477","type":"journal-article","created":{"date-parts":[[2025,6,2]],"date-time":"2025-06-02T19:36:15Z","timestamp":1748892975000},"page":"101477","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"title":["Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome"],"prefix":"10.1016","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5016-6426","authenticated-orcid":false,"given":"Susan","family":"Walker","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8686-558X","authenticated-orcid":false,"given":"David J.","family":"Bunyan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huw B.","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yesim","family":"Kesim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher J.","family":"Kershaw","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Holloway","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Htoo","family":"Wai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Day","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cassandra L.","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gareth","family":"Hawkes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew R.","family":"Wood","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael N.","family":"Weedon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ed","family":"Blair","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie L.","family":"Curtis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Fielden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Evans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Whittington","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah F.","family":"Smithson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Cox","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Clift","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meriel","family":"McEntagart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matina","family":"Prapa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzanne","family":"Alsters","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7780-4707","authenticated-orcid":false,"given":"Deborah","family":"Morris-Rosendahl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Dean","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2823-1762","authenticated-orcid":false,"given":"Patrick J.","family":"Morrison","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abhijit","family":"Dixit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ajoy","family":"Sarkar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrina","family":"Prescott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leila","family":"Amel Riazat Kesh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riya","family":"Tharakan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Turner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sian","family":"Ellard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles","family":"Shaw-Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Fasham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginia","family":"Clowes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon","family":"Holden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suresh","family":"Somarathi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Mercer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian","family":"Berry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8764-1289","authenticated-orcid":false,"given":"Raymond T.","family":"O\u2019Keefe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siddharth","family":"Banka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Baralle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N. Simon","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6637-3411","authenticated-orcid":false,"given":"Emma L.","family":"Baple","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3602-5704","authenticated-orcid":false,"given":"Jenny C.","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7334-0602","authenticated-orcid":false,"given":"Alistair T.","family":"Pagnamenta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.gim.2025.101477_bib1","first-page":"220","article-title":"Un cas de d\u00e9formation cong\u00e9nitale des quatre membres, plus prononc\u00e9e aux extr\u00e9mit\u00e9s, caract\u00e9ris\u00e9e par l\u2019allongement des os avec un certain degr\u00e9 d\u2019amincissement","volume":"13","author":"Marfan","year":"1896","journal-title":"Bull Mem Soc Med Hop Paris"},{"issue":"5","key":"10.1016\/j.gim.2025.101477_bib2","doi-asserted-by":"crossref","first-page":"273.e1","DOI":"10.1016\/j.jaapos.2023.07.006","article-title":"Incidence and de novo mutation rate of Marfan syndrome and risk of ectopia lentis","volume":"27","author":"Cui","year":"2023","journal-title":"J AAPOS"},{"key":"10.1016\/j.gim.2025.101477_bib3","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1186\/s13023-015-0369-8","article-title":"Prevalence, incidence, and age at diagnosis in Marfan syndrome","volume":"10","author":"Groth","year":"2015","journal-title":"Orphanet J Rare Dis"},{"issue":"7","key":"10.1016\/j.gim.2025.101477_bib4","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1136\/jmg.2009.072785","article-title":"The revised Ghent nosology for the Marfan syndrome","volume":"47","author":"Loeys","year":"2010","journal-title":"J Med Genet"},{"issue":"6333","key":"10.1016\/j.gim.2025.101477_bib5","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1038\/352337a0","article-title":"Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene","volume":"352","author":"Dietz","year":"1991","journal-title":"Nature"},{"issue":"5","key":"10.1016\/j.gim.2025.101477_bib6","doi-asserted-by":"crossref","first-page":"1674","DOI":"10.1172\/JCI115766","article-title":"Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene","volume":"89","author":"Dietz","year":"1992","journal-title":"J Clin Invest"},{"issue":"6","key":"10.1016\/j.gim.2025.101477_bib7","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1111\/cge.14322","article-title":"An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family","volume":"103","author":"Guo","year":"2023","journal-title":"Clin Genet"},{"issue":"5","key":"10.1016\/j.gim.2025.101477_bib8","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1002\/humu.1380010504","article-title":"Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains","volume":"1","author":"Dietz","year":"1992","journal-title":"Hum Mutat"},{"issue":"6","key":"10.1016\/j.gim.2025.101477_bib9","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGEN.117.002039","article-title":"Tailoring the American College of Medical Genetics and Genomics and the association for molecular pathology guidelines for the interpretation of sequenced variants in the FBN1 gene for Marfan syndrome: proposal for a disease- and gene-specific guideline","volume":"11","author":"Mui\u00f1o-Mosquera","year":"2018","journal-title":"Circ Genom Precis Med"},{"issue":"1","key":"10.1016\/j.gim.2025.101477_bib10","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1136\/jmg-2023-109433","article-title":"Experience of reassessing FBN1 variants of uncertain significance by gene-specific guidelines","volume":"61","author":"Yoon","year":"2023","journal-title":"J Med Genet"},{"issue":"1","key":"10.1016\/j.gim.2025.101477_bib11","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1016\/j.ajhg.2011.05.012","article-title":"Mutations in the TGFbeta binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias","volume":"89","author":"Le Goff","year":"2011","journal-title":"Am J Hum Genet"},{"issue":"2","key":"10.1016\/j.gim.2025.101477_bib12","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1002\/humu.20070","article-title":"Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome","volume":"24","author":"Loeys","year":"2004","journal-title":"Hum Mutat"},{"issue":"5","key":"10.1016\/j.gim.2025.101477_bib13","doi-asserted-by":"crossref","first-page":"1045","DOI":"10.1016\/j.gim.2021.12.015","article-title":"Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort","volume":"24","author":"Meester","year":"2022","journal-title":"Genet Med"},{"issue":"5","key":"10.1016\/j.gim.2025.101477_bib15","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1136\/jmg-2022-108753","article-title":"Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1","volume":"60","author":"Pagnamenta","year":"2023","journal-title":"J Med Genet"},{"issue":"4","key":"10.1016\/j.gim.2025.101477_bib16","doi-asserted-by":"crossref","DOI":"10.1002\/ajmg.a.63923","article-title":"De novo balanced translocations disrupting the FBN1 gene diagnosed by genome sequencing: an uncommon cause of Marfan syndrome modifying genetic counseling","volume":"197","author":"Racine","year":"2025","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.gim.2025.101477_bib17","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2023.1244983","article-title":"Case Report: decrypting an interchromosomal insertion associated with Marfan\u2019s syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants","volume":"14","author":"Bonaglia","year":"2023","journal-title":"Front Genet"},{"key":"10.1016\/j.gim.2025.101477_bib18","article-title":"The 100 000 Genomes Project: bringing whole genome sequencing to the NHS","volume":"361","author":"Turnbull","year":"2018","journal-title":"BMJ"},{"issue":"1","key":"10.1016\/j.gim.2025.101477_bib19","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/s40246-023-00451-1","article-title":"SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation","volume":"17","author":"de Sainte Agathe","year":"2023","journal-title":"Hum Genomics"},{"issue":"3","key":"10.1016\/j.gim.2025.101477_bib20","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1016\/j.cell.2018.12.015","article-title":"Predicting splicing from primary sequence with deep learning","volume":"176","author":"Jaganathan","year":"2019","journal-title":"Cell"},{"issue":"6","key":"10.1016\/j.gim.2025.101477_bib21","doi-asserted-by":"crossref","first-page":"1140","DOI":"10.1016\/j.ajhg.2024.04.018","article-title":"The impact of inversions across 33,924 families with rare disease from a national genome sequencing project","volume":"111","author":"Pagnamenta","year":"2024","journal-title":"Am J Hum Genet"},{"issue":"8","key":"10.1016\/j.gim.2025.101477_bib22","doi-asserted-by":"crossref","first-page":"1372","DOI":"10.1002\/humu.24027","article-title":"EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida type","volume":"41","author":"Thomas","year":"2020","journal-title":"Hum Mutat"},{"issue":"7726","key":"10.1016\/j.gim.2025.101477_bib23","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1038\/s41586-018-0579-z","article-title":"The UK biobank resource with deep phenotyping and genomic data","volume":"562","author":"Bycroft","year":"2018","journal-title":"Nature"},{"issue":"5","key":"10.1016\/j.gim.2025.101477_bib24","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"issue":"2","key":"10.1016\/j.gim.2025.101477_bib25","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/j.ymgme.2014.03.011","article-title":"The spectrum of FBN1, TGF\u03b2R1, TGF\u03b2R2 and ACTA2 variants in 594 individuals with suspected Marfan syndrome, Loeys-Dietz syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD)","volume":"112","author":"Lerner-Ellis","year":"2014","journal-title":"Mol Genet Metab"},{"issue":"12","key":"10.1016\/j.gim.2025.101477_bib26","doi-asserted-by":"crossref","first-page":"1801","DOI":"10.1016\/j.amjcard.2011.07.053","article-title":"Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 gene","volume":"108","author":"Ogawa","year":"2011","journal-title":"Am J Cardiol"},{"issue":"9","key":"10.1016\/j.gim.2025.101477_bib27","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1016\/j.ejmg.2017.06.005","article-title":"NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield","volume":"60","author":"Overwater","year":"2017","journal-title":"Eur J Med Genet"},{"issue":"5","key":"10.1016\/j.gim.2025.101477_bib28","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1002\/humu.22540","article-title":"An FBN1 deep intronic mutation in a familial case of Marfan syndrome: an explanation for genetically unsolved cases?","volume":"35","author":"Gillis","year":"2014","journal-title":"Hum Mutat"},{"issue":"18","key":"10.1016\/j.gim.2025.101477_bib29","doi-asserted-by":"crossref","first-page":"7507","DOI":"10.1073\/pnas.0810916106","article-title":"Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans","volume":"106","author":"Calvo","year":"2009","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"8","key":"10.1016\/j.gim.2025.101477_bib30","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1002\/humu.24248","article-title":"Upstream ORF frameshift variants in the PAX6 5\u2032UTR cause congenital aniridia","volume":"42","author":"Filatova","year":"2021","journal-title":"Hum Mutat"},{"issue":"7","key":"10.1016\/j.gim.2025.101477_bib31","doi-asserted-by":"crossref","first-page":"1046","DOI":"10.1016\/j.ajhg.2023.06.002","article-title":"Using the ACMG\/AMP framework to capture evidence related to predicted and observed impact on splicing: recommendations from the ClinGen SVI Splicing Subgroup","volume":"110","author":"Walker","year":"2023","journal-title":"Am J Hum Genet"},{"issue":"4","key":"10.1016\/j.gim.2025.101477_bib32","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1038\/s41569-018-0114-9","article-title":"Abdominal aortic aneurysm: update on pathogenesis and medical treatments","volume":"16","author":"Golledge","year":"2019","journal-title":"Nat Rev Cardiol"},{"issue":"11-12","key":"10.1016\/j.gim.2025.101477_bib33","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1007\/s10038-008-0334-7","article-title":"An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease","volume":"53","author":"Guo","year":"2008","journal-title":"J Hum Genet"},{"issue":"1-2","key":"10.1016\/j.gim.2025.101477_bib34","doi-asserted-by":"crossref","DOI":"10.1002\/jcla.25009","article-title":"Overcoming challenges associated with identifying FBN1 deep intronic variants through whole-genome sequencing","volume":"38","author":"Kim","year":"2024","journal-title":"J Clin Lab Anal"},{"issue":"1","key":"10.1016\/j.gim.2025.101477_bib35","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1186\/s13059-023-03144-z","article-title":"Benchmarking splice variant prediction algorithms using massively parallel splicing assays","volume":"24","author":"Smith","year":"2023","journal-title":"Genome Biol"},{"issue":"1","key":"10.1016\/j.gim.2025.101477_bib36","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1186\/s13073-024-01423-3","article-title":"Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource\u2019s FBN1 variant curation expert panel","volume":"16","author":"Drackley","year":"2024","journal-title":"Genome Med"},{"issue":"1","key":"10.1016\/j.gim.2025.101477_bib37","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1186\/s13073-022-01087-x","article-title":"A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project","volume":"14","author":"Blakes","year":"2022","journal-title":"Genome Med"},{"issue":"12","key":"10.1016\/j.gim.2025.101477_bib38","doi-asserted-by":"crossref","DOI":"10.1016\/j.gim.2024.101249","article-title":"Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants","volume":"26","author":"Lord","year":"2024","journal-title":"Genet Med"},{"issue":"12","key":"10.1016\/j.gim.2025.101477_bib39","doi-asserted-by":"crossref","first-page":"1235","DOI":"10.1136\/jmg-2023-109362","article-title":"Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project","volume":"60","author":"Moore","year":"2023","journal-title":"J Med Genet"},{"issue":"7","key":"10.1016\/j.gim.2025.101477_bib40","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1038\/s10038-022-01016-1","article-title":"Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing","volume":"67","author":"Hiraide","year":"2022","journal-title":"J Hum Genet"},{"issue":"1","key":"10.1016\/j.gim.2025.101477_bib41","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/s41598-021-03925-1","article-title":"Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes","volume":"12","author":"Rodriguez-Mu\u00f1oz","year":"2022","journal-title":"Sci Rep"},{"issue":"8","key":"10.1016\/j.gim.2025.101477_bib42","doi-asserted-by":"crossref","DOI":"10.1016\/j.gim.2023.100866","article-title":"ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)","volume":"25","author":"Miller","year":"2023","journal-title":"Genet Med"},{"issue":"3","key":"10.1016\/j.gim.2025.101477_bib43","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1111\/j.1399-0004.2011.01781.x","article-title":"Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities","volume":"82","author":"Robinson","year":"2012","journal-title":"Clin Genet"},{"issue":"1","key":"10.1016\/j.gim.2025.101477_bib44","doi-asserted-by":"crossref","DOI":"10.1016\/j.omtn.2023.102113","article-title":"Splicing defects and CRISPR-Cas9 correction in isogenic homozygous photoreceptor precursors harboring clustered deep-intronic ABCA4 variants","volume":"35","author":"De Angeli","year":"2024","journal-title":"Mol Ther Nucleic Acids"},{"issue":"5","key":"10.1016\/j.gim.2025.101477_bib45","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1016\/j.jmoldx.2023.02.001","article-title":"Deep intronic PAH variants explain missing heritability in hyperphenylalaninemia","volume":"25","author":"Luo","year":"2023","journal-title":"J Mol Diagn"},{"issue":"3","key":"10.1016\/j.gim.2025.101477_bib46","article-title":"A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods","volume":"5","author":"Oh","year":"2024","journal-title":"HGG Adv"}],"container-title":["Genetics in Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360025001248?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360025001248?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T15:02:15Z","timestamp":1778943735000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1098360025001248"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9]]},"references-count":45,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2025,9]]}},"alternative-id":["S1098360025001248"],"URL":"https:\/\/doi.org\/10.1016\/j.gim.2025.101477","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2025.02.18.25321172","asserted-by":"object"}]},"ISSN":["1098-3600"],"issn-type":[{"value":"1098-3600","type":"print"}],"subject":[],"published":{"date-parts":[[2025,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome","name":"articletitle","label":"Article Title"},{"value":"Genetics in Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gim.2025.101477","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics.","name":"copyright","label":"Copyright"}],"article-number":"101477"}}