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: 6290+30954C>T

PubMed Link: 35754842

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 1

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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: 6290+30954C>T

PubMed Link: 33977140

Variant Present in the following documents:

• Main text

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Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.

Bmc Cardiovascular Disorders

Hathaway, Julie J; Heliö, Krista K; Saarinen, Inka I; Tallila, Jonna J; Seppälä, Eija H EH; Tuupanen, Sari S; Turpeinen, Hannu H; Kangas-Kontio, Tiia T; Schleit, Jennifer J; Tommiska, Johanna J; Kytölä, Ville V; Valori, Miko M; Muona, Mikko M; Sistonen, Johanna J; Gentile, Massimiliano M; Salmenperä, Pertteli P; Myllykangas, Samuel S; Paananen, Jussi J; Alastalo, Tero-Pekka TP; Heliö, Tiina T; Koskenvuo, Juha J

Publication Date: 2021-03-05

Variant appearance in text: DMD: 6290+30954C>T

PubMed Link: 33673806

Variant Present in the following documents:

• 12872_2021_1927_MOESM1_ESM.xlsx, sheet 1

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Pseudoexons of the DMD Gene.

Journal Of Neuromuscular Diseases

Keegan, Niall P NP

Publication Date: 2020

Variant appearance in text: DMD: 6290+30954C>T

PubMed Link: 32176650

Variant Present in the following documents:

• Main text

View BVdb publication page