Articleposted 2025-12-04 09:27:03
Multilocus Inherited Neoplasia Alleles Syndrome: A Retrospective Review from a Canadian Single Institution
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Under Review
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Articleposted 2025-12-01 08:11:45
Expanding the GEFS+ Spectrum: Functional Characterization Of A SCN1B Variant
Philippe Campeau, Nazim Rabouhi, Jolien De Waele, Khadijé Jizi, Anne Lortie, Frank Bosmans
Under Review
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Articleposted 2025-11-19 16:14:30
Prevalence of deleterious variants in cardiomyopathy genes in early-onset atrial fibrillation
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Under Revision
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Articleposted 2025-10-15 13:45:41
Rethinking genomics of Facioscapulohumeral Muscular Dystrophy in the Telomere-to-Telomere era: pitfalls in the hidden landscape of D4Z4 repeats
Rossella Tupler, Valentina Salsi, Francesca Losi, Sara Pini, Matteo Chiara
Under Review
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Articleposted 2025-10-15 06:48:02
Domain-Specific Phenotypic Profiles in RAF1-Related Noonan Syndrome
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Published
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Articleposted 2025-09-30 07:35:12
Patient and Family Perspectives on Cascade Screening for Thoracic Aortic Disease: A Mixed-Methods Evaluation
Riccardo Giuseppe Abbasciano, Joanne Miksza, Julian Barwell, Norah Shannon, Paul Clift, Riccardo Proietti, Una Ahearn, and 20 more authors
Under Review
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Articleposted 2025-09-18 17:27:48
Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder
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Under Review
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Articleposted 2025-09-17 05:07:32
Short-Read Genome Sequencing at Population Scale: Diagnostic Insights From 2,317 Patients
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Under Review
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Articleposted 2025-09-11 11:14:20
Reporting Practices for Secondary Findings among ERN GENTURIS Member Institutions in 15 European Countries
Gunda Schwaninger, Kathrin Taxer, Katharina Wimmer, Karin Wadt, Simon Schnaiter, Sabine Rudnik-Schöneborn, Johannes Zschocke, and 1 more authors
Under Revision
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Articleposted 2025-09-11 07:22:20
Flexible and rapid validation of structural variation using adaptive sampling
Lars Feuk, Aida Paivandy, Felix Lenner, Jesper Eisfeldt, Tord Jonson, Hans Ehrencrona, Anna Lindstrand, and 1 more authors
Under Review
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