6ee70e4a9e274f9f7b4bb5fea3219719 AnnClinTransNeu_a2025iENG.pdf 27cc1766c7352e215f6f8c4cb680c3cc87081fbd AnnClinTransNeu_a2025iENG.pdf 48ae4fec05d19a328c0a9c9b0a9421fcde87cbe3ae4efbf20a2f977bcd208970 AnnClinTransNeu_a2025iENG.pdf Title: Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases Subject: Ann Clin Transl Neurol 0.0 Creator: Adobe InDesign 19.3 (Windows) Producer: Adobe PDF Library 17.0; modified using iText 4.2.0 by 1T3XT CreationDate: Sat May 24 10:30:38 2025 CEST ModDate: Thu May 29 13:44:59 2025 CEST Custom Metadata: yes Metadata Stream: yes Tagged: no UserProperties: no Suspects: no Form: none JavaScript: no Pages: 15 Encrypted: no Page size: 595.276 x 782.362 pts Page rot: 0 File size: 8151560 bytes Optimized: no PDF version: 1.7 name type encoding emb sub uni object ID ------------------------------------ ----------------- ---------------- --- --- --- --------- PQZHXO+STIXTwoText-Italic Type 1C WinAnsi yes yes yes 57 0 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DocumentCatalog: ViewerPreferences: HideToolbar: false HideMenubar: false HideWindowUI: false FitWindow: false CenterWindow: false DisplayDocTitle: false NonFullScreenPageMode: UseNone Direction: L2R ViewArea: CropBox ViewClip: CropBox PrintArea: CropBox PageClip: CropBox PageLayout: SinglePage PageMode: UseNone Language: en-US Outlines: Item: Title: Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases Children: Item: Title: ABSTRACT Item: Title: 1   |   Introduction Item: Title: 2   |   Materials and Methods Children: Item: Title: 2.1   |   Patients Item: Title: 2.2   |   RNA Extraction, Library Preparation, and Sequencing Item: Title: 2.3   |   RNAseq Data Analysis Item: Title: 2.4   |   Aberrant Splicing Item: Title: 2.5   |   Gene Expression Item: Title: 2.6   |   Variant Calling (VC) Item: Title: 2.7   |   Monoallelic Expression (MAE) Item: Title: 2.8   |   Prioritization, Interpretation, and Validation Item: Title: 3   |   Results Children: Item: Title: 3.1   |   Muscle Transcriptome Analysis in a Cohort of 70 Genetically Unsolved Cases Item: Title: 3.2   |   Aberrant Splicing Detection Item: Title: 3.3   |   VUS Reclassification Children: Item: Title: 3.3.1   |   Aberrant Splicing Caused by an Apparent Synonymous RYR1 Variant Item: Title: 3.3.2   |   Intron Retention due to a Missense TTN Variant Item: Title: 3.4   |   RNAseq Accelerates Prioritization of GS Results Children: Item: Title: 3.4.1   |   Exon Skipping due to an Exon Deletion Missed by CNV Callers Item: Title: 3.4.2   |   Identification ofEight Down-Expressed Genes Underlying a De Novo Deletion Item: Title: 3.4.3   |   Detection of Monoallelic Expression in an Autosomal Recessive Gene Probably due to a 5'UTR Deletion Item: Title: 4   |   Discussion Item: Title: Author Contributions Item: Title: Acknowledgments Item: Title: Conflicts of Interest Item: Title: Data Availability Statement Item: Title: References Filters: FilterPipeline: FlateDecode FilterPipeline: DCTDecode 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