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Medrxiv : the Preprint Server for Health Sciences|August 14, 2023
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes ProjectSarah L Stenton, Melanie O'Leary, Gabrielle Lemire, et al.Human Genomics|April 29, 2024
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes projectSarah L Stenton, Melanie C O'Leary, Gabrielle Lemire, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohortDena R Matalon, Angela L Duker, Taylor M Arriaga, et al.Medrxiv : the Preprint Server for Health Sciences|February 8, 2024
Unique Capabilities of Genome Sequencing for Rare Disease DiagnosisMonica H Wojcik, Gabrielle Lemire, Maha S Zaki, et al.Medrxiv : the Preprint Server for Health Sciences|July 3, 2026
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencingAlba Sanchis-Juan, Yulia Mostovoy, Sarah L Stenton, et al.The New England Journal of Medicine|June 5, 2024
Genome Sequencing for Diagnosing Rare DiseasesMonica H Wojcik, Gabrielle Lemire, Eva Berger, et al.Medrxiv : the Preprint Server for Health Sciences|April 22, 2024
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disordersYuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.Nature|July 11, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndromeYuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.Pageof 29