Correspondence on "Genome sequencing reveals the impact of pseudoexons in rare genetic disease" by Pitsava et al

Daffodil M. Canson; George A.R. Wiggins; Logan C. Walker; Amanda B. Spurdle

doi:10.1016/j.gim.2025.101636

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Correspondence on "Genome sequencing reveals the impact of pseudoexons in rare genetic disease" by Pitsava et al

Letter/Communication

Open access

Peer reviewed

Correspondence on "Genome sequencing reveals the impact of pseudoexons in rare genetic disease" by Pitsava et al

Daffodil M. Canson, George A.R. Wiggins, Logan C. Walker and Amanda B. Spurdle

Genetics in medicine, Vol.28(1), 101636

06/01/2026

DOI: https://doi.org/10.1016/j.gim.2025.101636

Handle:

https://hdl.handle.net/10523/49436

Abstract

Genome sequencing

Intronic variants

Pseudoexon

Rare disease

RNA sequencing

Letter to the Editor

Letter to the Editor regarding Pitsava et al. (2025). Genome sequencing reveals the impact of pseudoexons in rare genetic disease. Genetics in medicine, 27(11), 101574. https://doi.org/10.1016/j.gim.2025.101574

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Record Identifier: 9926827097901891
Title: Correspondence on "Genome sequencing reveals the impact of pseudoexons in rare genetic disease" by Pitsava et al
Creators: Daffodil M. Canson
George A.R. Wiggins
Logan C. Walker
Amanda B. Spurdle
Publication Details: Genetics in medicine, Vol.28(1), 101636
Academic Unit: Pathology and Molecular Medicine (UOC)
Publisher: Elsevier
Grants: Improving genetic health through RNA diagnostics, NZHRC02448, Health Research Council of New Zealand (New Zealand, Auckland) - HRC
Date published ; e-published: 06/01/2026
Comment: The published version is not available in full-text in OUR Archive. Where available, a link to the published version is provided (check the DOI and/or the Files and links section). The full-text item may be open access on the publisher's website. An earlier version of the work (such as authors' accepted manuscript following peer-review or unreviewed preprint/author's original version) may be available in the Files and links section of this record. Alternatively, readers may have subscription access to the full-text from the publisher.
Language: English
Resource Type ; Subtype: Letter/Communication