Publications:

Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.

Frontiers In Genetics

Keegan, Niall P NP; Wilton, Steve D SD; Fletcher, Sue S

Publication Date: 2022

Variant appearance in text: DMD: 3603+820G>T

PubMed Link: 35754842

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 1

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Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases.

Journal Of Medical Genetics

Hong, Sung Eun SE; Kneissl, Jana J; Cho, Anna A; Kim, Man Jin MJ; Park, Soojin S; Lee, Jeongeun J; Woo, Sijae S; Kim, Sora S; Kim, Jun-Soon JS; Kim, Soo Yeon SY; Jung, Sungwon S; Kim, Jinkuk J; Shin, Je-Young JY; Chae, Jong-Hee JH; Choi, Murim M

Publication Date: 2022-11

Variant appearance in text: DMD: 3603+820G>T

PubMed Link: 35387801

Variant Present in the following documents:

• Main text
• jmedgenet-2021-108307.pdf
• jmedgenet-2021-108307supp001.xlsx, sheet 4

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Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.

Frontiers In Genetics

Keegan, Niall P NP; Wilton, Steve D SD; Fletcher, Sue S

Publication Date: 2021

Variant appearance in text: DMD: 3603+820G>T

PubMed Link: 35140743

Variant Present in the following documents:

• Main text
• fgene-12-806946.pdf

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WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase.

Neurology. Genetics

Waddell, Leigh B LB; Bryen, Samantha J SJ; Cummings, Beryl B BB; Bournazos, Adam A; Evesson, Frances J FJ; Joshi, Himanshu H; Marshall, Jamie L JL; Tukiainen, Taru T; Valkanas, Elise E; Weisburd, Ben B; Sadedin, Simon S; Davis, Mark R MR; Faiz, Fathimath F; Gooding, Rebecca R; Sandaradura, Sarah A SA; O'Grady, Gina L GL; Tchan, Michel C MC; Mowat, David R DR; Oates, Emily C EC; Farrar, Michelle A MA; Sampaio, Hugo H; Ma, Alan A; Neas, Katherine K; Wang, Min-Xia MX; Charlton, Amanda A; Chan, Charles C; Kenwright, Diane N DN; Graf, Nicole N; Arbuckle, Susan S; Clarke, Nigel F NF; MacArthur, Daniel G DG; Jones, Kristi J KJ; Lek, Monkol M; Cooper, Sandra T ST

Publication Date: 2021-02

Variant appearance in text: DMD: 3603+820G>T

PubMed Link: 33977140

Variant Present in the following documents:

• Main text

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