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Exon mapping

A gene-specific RNA enrichment protocol for nanopore direct-RNA sequencing

Maja Bele Dyrendalsli, Cecilie Løkke, Christer Einvik

published 11 Feb 2026

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Structure and function of Full-length Tau

Laura Vallés-Saiz, Indalo Domene-Serrano, Angel J. Picher, Mar Pérez, Vega García-Escudero, Félix Hernández, Jesús Avila

published 31 Oct 2025

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Alternative splicing and residual function potentially expand the therapeutic landscape of the CFTRdele2ins182 variant

Cristina Pastorino, Ludovica Menta, Emanuela Pesce, Mariateresa Lena, Valeria Tomati, Valeria Capurro, Marco Di Duca, Vito Terlizzi, Andrea Gramegna, Francesco Blasi, Carlo Castellani, Serena Cappato, Federico Zara, Nicoletta Pedemonte, Renata Bocciardi

published 16 Sep 2025

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The impact of genetically controlled splicing on exon inclusion and protein structure

Jonah Einson, Mariia Minaeva, Faiza Rafi, Tuuli Lappalainen

published 13 Mar 2024

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Dystonin modifiers of junctional epidermolysis bullosa and models of epidermolysis bullosa simplex without dystonia musculorum

Thomas J. Sproule, Robert Y. Wilpan, John J. Wilson, Benjamin E. Low, Yudai Kabata, Tatsuo Ushiki, Riichiro Abe, Michael V. Wiles, Derry C. Roopenian, John P. Sundberg

published 26 Oct 2023

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Functional analysis of Collagen 17a1: A genetic modifier of junctional epidermolysis bullosa in mice

Thomas J. Sproule, Robert Y. Wilpan, Benjamin E. Low, Kathleen A. Silva, Deepak Reyon, J. Keith Joung, Michael V. Wiles, Derry C. Roopenian, John P. Sundberg

published 05 Oct 2023

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Mirage2’s high-quality spliced protein-to-genome mappings produce accurate multiple-sequence alignments of isoforms

Alexander J. Nord, Travis J. Wheeler

published 08 May 2023

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Functionally distinct BMP1 isoforms show an opposite pattern of abundance in plasma from non-small cell lung cancer subjects and controls

Margaret K. R. Donovan, Yingxiang Huang, John E. Blume, Jian Wang, Daniel Hornburg, Shadi Ferdosi, Iman Mohtashemi, Sangtae Kim, Marwin Ko, Ryan W. Benz, Theodore L. Platt, Serafim Batzoglou, Luis A. Diaz, Omid C. Farokhzad, Asim Siddiqui

published 29 Mar 2023

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Pharmacotherapy alleviates pathological changes in human direct reprogrammed neuronal cell model of myotonic dystrophy type 1

Mougina K. Eltahir, Masayuki Nakamori, Satoshi Hattori, Takashi Kimura, Hideki Mochizuki, Seiichi Nagano

published 01 Jul 2022

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A model for isoform-level differential expression analysis using RNA-seq data without pre-specifying isoform structure

Yang Liu, Junying Wang, Song Wu, Jie Yang

published 16 May 2022

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Development and evaluation of a custom bait design based on 469 single-copy protein-coding genes for exon capture of isopods (Philosciidae: Haloniscus)

Danielle N. Stringer, Terry Bertozzi, Karen Meusemann, Steven Delean, Michelle T. Guzik, Simon M. Tierney, Christoph Mayer, Steven J. B. Cooper, Mohammad Javidkar, Andreas Zwick, Andrew D. Austin

published 17 Sep 2021

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The Zmat2 gene in non-mammalian vertebrates: Organizational simplicity within a divergent locus in fish

Peter Rotwein

published 28 May 2020

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Differences in splicing defects between the grey and white matter in myotonic dystrophy type 1 patients

Masamitsu Nishi, Takashi Kimura, Masataka Igeta, Mitsuru Furuta, Koichi Suenaga, Tsuyoshi Matsumura, Harutoshi Fujimura, Kenji Jinnai, Hiroo Yoshikawa

published 14 May 2020

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